PANELES:
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Displasia Espondilometafisaria / Displasia Espondiloepimetafisaria
| ACP5 | Spondyloenchondrodysplasia with immune dysregulation |
| B3GALT6 | Ehlers-Danlos syndrome, Spondyloepimetaphyseal dysplasia with joint laxity |
| CANT1 | Desbuquois dysplasia |
| CHST3 | Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) |
| COL2A1 | Achondrogenesis type 2, Avascular necrosis of femoral head, Czech dysplasia, Epiphyseal dysplasia, with myopia and deafness, Hypochondrogenesis, Kniest dysplasia, Mild SED with premature onset arthrosis, Platyspondylic dysplasia Torrance type, Rhegmatogenous retinal detachment, SED with metatarsal shortening, Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloperipheral dysplasia, Stickler syndrome type 1 |
| COL11A1 | Fibrochondrogenesis, Marshall syndrome, Stickler syndrome type 2 |
| COL11A2 | Deafness, Fibrochondrogenesis, Otospondylomegaepiphyseal dysplasia, Stickler syndrome type 3 (non-ocular), Weissenbacher-Zweymuller syndrome |
| DYM | Dyggve-Melchior-Clausen dysplasia, Smith-McCort dysplasia |
| EIF2AK3 | SED, Wolcott-Rallison type |
| HSPG2 | Dyssegmental dysplasia Rolland-Desbuquis type, Dyssegmental dysplasia Silverman-Handmaker type, Schwartz-Jampel syndrome |
| MATN3 | Multiple epiphyseal dysplasia type 5 (EDM5), Spondyloepimetaphyseal dysplasia Matrilin type |
| PAPSS2 | Brachyolmia 4 with mild epiphyseal and metaphyseal changes, SEMD PAPPS2 type |
| RMRP | Anauxetic dysplasia, Cartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis |
| SLC39A13 | Spondylodysplastic Ehlers-Danlos syndrome |
| SMARCAL1 | Schimke immunoosseous dysplasia |
| TRAPPC2 | Spondyloepiphyseal dysplasia tarda |
| TRPV4 | Brachyolmia (autosomal dominant type), Charcot-Marie-Tooth disease, Familial Digital arthropathy with brachydactyly, Hereditary motor and sensory neuropathy, Metatropic dysplasia, Parastremmatic dwarfism, Spinal muscular atrophy, Spondyloepiphyseal dysplasia Maroteaux type, Spondylometaphyseal dysplasia Kozlowski type |
| WISP3 | Arthropathy, progressive pseudorheumatoid, of childhood, Spondyloepiphyseal dysplasia tarda with progressive arthropathy |
Panel Básico de Displasias Esqueléticas
| ACP5 | Spondyloenchondrodysplasia with immune dysregulation |
| ADAMTS10 | Weill-Marchesani syndrome |
| ADAMTSL2 | Geleophysic dysplasia |
| AGPS | Rhizomelic chondrodysplasia punctata type 3 |
| ALPL | Hypophosphatasia perinatal lethal, infantile, juvenile and adult forms, Odontohypophosphatasia |
| ANKH | Calcium pyrophosphate deposition disease (familial chondrocalcinosis type 2), Craniometaphyseal dysplasia autosomal dominant type |
| ARSE | Chondrodysplasia punctata X-linked recessive, brachytelephalangic type (CDPX1) |
| B3GALT6 | Ehlers-Danlos syndrome, Spondyloepimetaphyseal dysplasia with joint laxity |
| BMP1 | Osteogenesis imperfecta |
| BMPR1B | Acromesomelic dysplasia, Demirhan, Brachydactyly C/Symphalangism-like pheno, Brachydactyly type A2 |
| CA2 | Osteopetrosis, with renal tubular acidosis |
| CANT1 | Desbuquois dysplasia |
| CDC6 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
| CDKN1C | Beckwith-Wiedemann syndrome, IMAGE syndrome |
| CDT1 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
| CHST3 | Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) |
| CLCN7 | Osteopetrosis |
| COL1A1 | Caffey disease, Ehlers-Danlos syndrome, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| COL1A2 | Ehlers-Danlos syndrome, cardiac valvular form, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| COL2A1 | Achondrogenesis type 2, Avascular necrosis of femoral head, Czech dysplasia, Epiphyseal dysplasia, with myopia and deafness, Hypochondrogenesis, Kniest dysplasia, Mild SED with premature onset arthrosis, Platyspondylic dysplasia Torrance type, Rhegmatogenous retinal detachment, SED with metatarsal shortening, Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloperipheral dysplasia, Stickler syndrome type 1 |
| COL9A1 | Multiple epiphyseal dysplasia type 6 (EDM6), Stickler syndrome recessive type |
| COL9A2 | Multiple epiphyseal dysplasia type 2 (EDM2), Stickler syndrome |
| COL9A3 | Multiple epihyseal dysplasia type 3 (EDM3) |
| COL10A1 | Metaphyseal chondrodysplasia, Schmid |
| COL11A1 | Fibrochondrogenesis, Marshall syndrome, Stickler syndrome type 2 |
| COL11A2 | Deafness, Fibrochondrogenesis, Otospondylomegaepiphyseal dysplasia, Stickler syndrome type 3 (non-ocular), Weissenbacher-Zweymuller syndrome |
| COMP | Multiple ephiphyseal dysplasia, Pseudoachondroplasia |
| CRTAP | Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| CSPP1 | Jeune Asphyxiating Thoracic Dystrophy, Joubert syndrome |
| CTSK | Pycnodysostosis |
| CUL7 | 3-M syndrome, Yakut short stature syndrome |
| CYP27B1 | Vitamin D-dependent rickets |
| DHCR24 | Desmosterolosis |
| DLL3 | Spondylocostal dysostosis |
| DVL1 | Robinow syndrome |
| DYM | Dyggve-Melchior-Clausen dysplasia, Smith-McCort dysplasia |
| DYNC2H1 | Asphyxiating thoracic dysplasia (ATD; Jeune), SRPS type 2 (Majewski), Short -rib thoracic dysplasia with or without polydactyly type 1, Short -rib thoracic dysplasia with or without polydactyly type 3 |
| EBP | Chondrodysplasia punctata, Male EBP disorder with neurologic defects (MEND) |
| EIF2AK3 | SED, Wolcott-Rallison type |
| ENPP1 | Arterial calcification, Hypophosphatemic rickets |
| ESCO2 | Roberts syndrome, SC phocomelia syndrome |
| EVC | Ellis-van Creveld syndrome, Weyers acrofacial dysostosis |
| EVC2 | Ellis-van Creveld syndrome, Weyers acrodental dysostosis |
| FAM20C | Hypophosphatemia, hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis (Raine syndrome) |
| FGF23 | Hypophosphatemic rickets, Tumoral calcinosis, hyperphosphatemic |
| FGFR1 | Hartsfield syndrome, Hypogonadotropic hypogonadism, Osteoglophonic Dwarfism - Craniostenosis, Pfeiffer syndrome, Trigonocephaly |
| FGFR2 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Apert syndrome, Beare-Stevenson cutis gyrata syndrome, Bent bone dysplasia, Craniofacial-skeletal-dermatological dysplasia, Crouzon syndrome, Jackson-Weiss syndrome, Lacrimoauriculodentodigital syndrome, Pfeiffer syndrome |
| FGFR3 | Achondroplasia, Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome, Crouzon syndrome with acanthosis nigricans, Hypochondroplasia, Lacrimoauriculodentodigital syndrome, Muenke syndrome, SADDAN, Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 2 |
| FKBP10 | Bruck syndrome type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| FLNA | Frontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects |
| FLNB | Atelosteogenesis type 1, Atelosteogenesis type 3, Larsen syndrome (dominant), Spondylo-carpal-tarsal dyspasia |
| GDF5 | Acromesomelic dysplasia, Hunter-Thompson, Brachydactyly type A2, Brachydactyly type C, Chondrodysplasia, Fibular hypoplasia and complex brachydactyly, Grebe dysplasia, Multiple synostoses syndrome, Symphalangism, proximal |
| GNPAT | Rhizomelic chondrodysplasia punctata, rhizomelic |
| HSPG2 | Dyssegmental dysplasia Rolland-Desbuquis type, Dyssegmental dysplasia Silverman-Handmaker type, Schwartz-Jampel syndrome |
| IFT80 | Asphyxiating thoracic dysplasia (ATD; Jeune), Short -rib thoracic dysplasia with or without polydactyly |
| IFT140 | Asphyxiating thoracic dysplasia (ATD; Jeune), Short -rib thoracic dysplasia with or without polydactyly |
| IFT172 | Asphyxiating thoracic dysplasia (ATD; Jeune), Retinitis pigmentosa, Short -rib thoracic dysplasia with or without polydactyly |
| IHH | Acrocapitofemoral dysplasia, Brachydactyly, Syndactyly type Lueken |
| IKBKG | Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, Immunodeficiency, Incontinentia pigmenti, Invasive pneumococcal disease, recurrent, isolated, Osteopetrosis with ectodermal dysplasia and immune defect (OLEDAID) |
| KAT6B | Genitopatellar syndrome, Ohdo syndrome, SBBYS variant |
| LBR | Greenberg/HEM skeletal dysplasia, Hydrops-ectopic calcification-moth-eaten skeletal dysplasia, Pelger-Huet anomaly, Reynolds syndrome |
| LIFR | Schwartz-Jampel type 2 syndrome, Stuve-Wiedemann dysplasia |
| LMX1B | Nail-patella syndrome |
| LRP5 | Exudative vitreoretinopathy, Hyperostosis, endosteal, LRP5 primary osteoporosis, Osteopetrosis late-onset form type 1, Osteoporosis-pseudoglioma syndrome, Osteosclerosis, Van Buchem disease |
| LTBP2 | Glaucoma, primary congenital, Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Weill-Marchesani syndrome |
| MATN3 | Multiple epiphyseal dysplasia type 5 (EDM5), Spondyloepimetaphyseal dysplasia Matrilin type |
| MMP9 | Metaphyseal anadysplasia |
| NEK1 | SRPS type 2 (Majewski), Short -rib thoracic dysplasia with or without polydactyly |
| NPR2 | Acromesomelic dysplasia type Maroteaux, Epiphyseal chondrodysplasia, Miura, Short stature with nonspecific skeletal abnormalities |
| OBSL1 | 3-M syndrome |
| ORC1 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
| ORC4 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
| ORC6 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
| P3H1 | Osteogenesis imperfecta |
| PAPSS2 | Brachyolmia 4 with mild epiphyseal and metaphyseal changes, SEMD PAPPS2 type |
| PCNT | Microcephalic osteodysplastic primordial dwarfism |
| PEX7 | Refsum disease, Rhizomelic CDP type 1 |
| PHEX | Hypophosphatemic rickets |
| PLOD2 | Bruck syndrome, Osteogenesis imperfecta type 3 |
| PPIB | Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| PTH1R | Blomstrand dysplasia, Eiken dysplasia, Failure of tooth eruption, Metaphyseal chondrodysplasia Jansen type |
| RMRP | Anauxetic dysplasia, Cartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis |
| RNU4ATAC | Microcephalic osteodysplastic primordial dwarfism type 1, Microcephalic osteodysplastic primordial dwarfism type 3, Roifman syndrome |
| ROR2 | Brachydactyly type B, Robinow syndrome recessive type |
| RUNX2 | Cleidocranial dysplasia, Metaphyseal dysplasia with maxillary hypoplasia |
| SBDS | Aplastic anemia, Severe spondylometaphyseal dysplasia, Shwachman-Diamond syndrome |
| SERPINF1 | Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| SERPINH1 | Osteogenesis imperfecta type 3 |
| SHOX | Langer mesomelic dysplasia, Leri-Weill dyschondrosteosis, Short stature |
| SLC26A2 | Achondrogenesis type 1B, Atelosteogenesis type 2, De la Chapelle dysplasia, Diastrophic dysplasia, Recessive Multiple Epiphyseal dysplasia |
| SLC34A3 | Hypophosphatemic rickets with hypercalciuria |
| SLC39A13 | Spondylodysplastic Ehlers-Danlos syndrome |
| SMAD4 | Hereditary hemorrhagic telangiectasia, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre dysplasia, Polyposis, juvenile intestinal |
| SMARCAL1 | Schimke immunoosseous dysplasia |
| SOX9 | 46,XY sex reversal, Brachydactyly with anonychia (Cooks syndrome), Campomelic dysplasia |
| TCIRG1 | Osteopetrosis, severe neonatal or infantile forms (OPTB1) |
| TGFB1 | Diaphyseal dysplasia Camurati-Engelmann |
| TNFRSF11A | Familial expansile osteolysis, Osteopetrosis, severe neonatal or infantile forms (OPTB1), Paget disease of bone |
| TNFRSF11B | Paget disease of bone, juvenile |
| TRAPPC2 | Spondyloepiphyseal dysplasia tarda |
| TRPV4 | Brachyolmia (autosomal dominant type), Charcot-Marie-Tooth disease, Familial Digital arthropathy with brachydactyly, Hereditary motor and sensory neuropathy, Metatropic dysplasia, Parastremmatic dwarfism, Spinal muscular atrophy, Spondyloepiphyseal dysplasia Maroteaux type, Spondylometaphyseal dysplasia Kozlowski type |
| TTC21B | Asphyxiating thoracic dysplasia (ATD; Jeune), Nephronophthisis, Short-rib thoracic dysplasia |
| VDR | Vitamin D-dependent rickets |
| WDR19 | Asphyxiating thoracic dysplasia (ATD; Jeune), Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Nephronophthisis, Retinitis pigmentosa, Senior-Loken syndrome, Short -rib thoracic dysplasia with or without polydactyly |
| WDR35 | Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Short rib-polydactyly syndrome type 5 |
| WISP3 | Arthropathy, progressive pseudorheumatoid, of childhood, Spondyloepiphyseal dysplasia tarda with progressive arthropathy |
| WNT5A | Robinow syndrome |
Panel Completo de Anomalías Esqueléticas / Síndromes de Malformaciones
| ABCC6 | Pseudoxanthoma elasticum |
| ACP5 | Spondyloenchondrodysplasia with immune dysregulation |
| ACTA1 | Myopathy |
| ACTB | Baraitser-Winter syndrome |
| ACTG1 | Baraitser-Winter syndrome, Deafness |
| ACVR1 | Fibrodysplasia ossificans progressiva |
| ADAMTS2 | Ehlers-Danlos syndrome |
| ADAMTS10 | Weill-Marchesani syndrome |
| ADAMTSL2 | Geleophysic dysplasia |
| ADGRG1 | Polymicrogyria, bilateral frontoparietal, Polymicrogyris, bilateral perisylvian |
| AGPS | Rhizomelic chondrodysplasia punctata type 3 |
| AGRN | Myasthenic syndrome, congenital |
| AKT1 | Cowden syndrome, Proteus syndrome |
| AKT3 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome |
| ALPL | Hypophosphatasia perinatal lethal, infantile, juvenile and adult forms, Odontohypophosphatasia |
| ALX3 | Frontonasal dysplasia type 1 |
| ALX4 | Frontonasal dysplasia type 2, Parietal foramina |
| AMER1 | Osteopathia striata with cranial sclerosis |
| ANKH | Calcium pyrophosphate deposition disease (familial chondrocalcinosis type 2), Craniometaphyseal dysplasia autosomal dominant type |
| ANO5 | Gnathodiaphyseal dysplasia, LGMD2L and distal MMD3 muscular dystrophies |
| ARFGEF2 | Heterotopia, periventricular |
| ARHGAP31 | Adams-Oliver syndrome |
| ARID1A | Coffin-Siris syndrome, Mental retardation |
| ARID1B | Coffin-Siris syndrome, Mental retardation |
| ARSE | Chondrodysplasia punctata X-linked recessive, brachytelephalangic type (CDPX1) |
| ARX | Corpus callosum, agenesis of, with abnormal genitalia, Epileptic encephalopathy, Hydranencephaly with abnormal genitalia, Lissencephaly, Mental retardation, Partington syndrome, Proud syndrome |
| ASPA | Aspartoacylase deficiency (Canavan disease) |
| ASPM | Microcephaly |
| ASXL1 | Bohring-Opitz syndrome |
| ATP6V0A2 | Cutis laxa, Wrinkly skin syndrome |
| ATR | Cutaneous telangiectasia and cancer syndrome, Seckel syndrome |
| B3GALNT2 | Muscular dystrophy-dystroglycanopathy |
| B3GALT6 | Ehlers-Danlos syndrome, Spondyloepimetaphyseal dysplasia with joint laxity |
| B4GALT7 | Ehlers-Danlos syndrome, progeroid form |
| BHLHA9 | Gollop-Wolfgang, Split hand-foot malformation with long bone deficiency (SHFLD3), Syndactyly Malik-Percin type, mesoaxial synostotic, with phalangeal reduction |
| BIN1 | Myopathy, centronuclear |
| BMP1 | Osteogenesis imperfecta |
| BMP2 | Brachydactyly type A2 |
| BMP4 | Microphthalmia, syndromic, Orofacial cleft |
| BMPR1A | Polyposis, juvenile intestinal |
| BMPR1B | Acromesomelic dysplasia, Demirhan, Brachydactyly C/Symphalangism-like pheno, Brachydactyly type A2 |
| BRWD3 | Mental retardation |
| CA2 | Osteopetrosis, with renal tubular acidosis |
| CANT1 | Desbuquois dysplasia |
| CAPN3 | Eosinophilic myositis, Muscular dystrophy, limb-girdle |
| CASK | FG syndrome, Mental retardation, Mental retardation and microcephaly with pontine and cerebellar hypoplasia |
| CASR | Familial Hypocalciuric hypercalcemia with transient Neonatal hyperparathyroidism, Hypocalcemia, Neonatal hyperparathyroidism |
| CBS | Homocystinuria due to cystathionine beta-synthase deficiency |
| CCM2 | Cerebral cavernous malformations |
| CCND2 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome |
| CDC6 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
| CDK5RAP2 | Microcephaly |
| CDKN1C | Beckwith-Wiedemann syndrome, IMAGE syndrome |
| CDON | Holoprosencephaly |
| CDT1 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
| CENPF | Ciliary dyskinesia -Lethal Ciliopathy |
| CENPJ | Microcephaly, Seckel syndrome |
| CEP63 | Seckel syndrome |
| CEP152 | Microcephaly, Seckel syndrome |
| CEP164 | Nephronophthisis |
| CFL2 | Nemaline myopathy |
| CHAT | Myasthenic syndrome, congenital |
| CHD7 | CHARGE syndrome, Isolated gonadotropin-releasing hormone deficiency |
| CHD8 | Autism |
| CHKB | Muscular dystrophy, congenital, megaconial |
| CHRNA1 | Myasthenic syndrome, congenital |
| CHRNB1 | Myasthenic syndrome |
| CHRND | Myasthenic syndrome |
| CHRNE | Myasthenic syndrome |
| CHRNG | Escobar syndrome, Multiple pterygium syndrome |
| CHST3 | Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) |
| CHST14 | Ehlers-Danlos syndrome, musculocontractural |
| CLCN5 | Dent disease, Hypophosphatemic rickets,, Nephrolithiasis, I, Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis |
| CLCN7 | Osteopetrosis |
| COL1A1 | Caffey disease, Ehlers-Danlos syndrome, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| COL1A2 | Ehlers-Danlos syndrome, cardiac valvular form, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| COL2A1 | Achondrogenesis type 2, Avascular necrosis of femoral head, Czech dysplasia, Epiphyseal dysplasia, with myopia and deafness, Hypochondrogenesis, Kniest dysplasia, Mild SED with premature onset arthrosis, Platyspondylic dysplasia Torrance type, Rhegmatogenous retinal detachment, SED with metatarsal shortening, Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloperipheral dysplasia, Stickler syndrome type 1 |
| COL3A1 | Ehlers-Danlos syndrome |
| COL4A1 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Anterior segment dysgenesis with cerebral involvement, Brain small vessel disease, Porencephaly, Retinal artery tortuosity, Schizencephaly |
| COL4A2 | Hemorrhage, intracerebral |
| COL4A4 | Alport syndrome |
| COL5A1 | Ehlers-Danlos syndrome |
| COL5A2 | Ehlers-Danlos syndrome |
| COL6A1 | Bethlem myopathy, Ullrich congenital muscular dystrophy |
| COL6A2 | Bethlem myopathy, Epilepsy, progressive myoclonic, Myosclerosis, congenital, Ullrich congenital muscular dystrophy |
| COL6A3 | Bethlem myopathy, Dystonia, Ullrich congenital muscular dystrophy |
| COL9A1 | Multiple epiphyseal dysplasia type 6 (EDM6), Stickler syndrome recessive type |
| COL9A2 | Multiple epiphyseal dysplasia type 2 (EDM2), Stickler syndrome |
| COL9A3 | Multiple epihyseal dysplasia type 3 (EDM3) |
| COL10A1 | Metaphyseal chondrodysplasia, Schmid |
| COL11A1 | Fibrochondrogenesis, Marshall syndrome, Stickler syndrome type 2 |
| COL11A2 | Deafness, Fibrochondrogenesis, Otospondylomegaepiphyseal dysplasia, Stickler syndrome type 3 (non-ocular), Weissenbacher-Zweymuller syndrome |
| COLQ | Myasthenic syndrome, congenital |
| COMP | Multiple ephiphyseal dysplasia, Pseudoachondroplasia |
| CREBBP | Rubinstein-Taybi syndrome |
| CRTAP | Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| CSPP1 | Jeune Asphyxiating Thoracic Dystrophy, Joubert syndrome |
| CTSK | Pycnodysostosis |
| CUL4B | Mental retardation, syndromic, Cabezas |
| CUL7 | 3-M syndrome, Yakut short stature syndrome |
| CYP27B1 | Vitamin D-dependent rickets |
| DCX | Lissencephaly, Subcortical laminal heterotopia |
| DHCR7 | Smith-Lemli-Opitz syndrome |
| DHCR24 | Desmosterolosis |
| DIS3L2 | Perlman syndrome |
| DLL3 | Spondylocostal dysostosis |
| DLL4 | Adams-Oliver syndrome |
| DLX3 | Amelogenesis imperfecta, Trichodontoosseous syndrome |
| DNM2 | Charcot-Marie-Tooth disease, Lethal akinesia and musculoskeletal abnormalities, with brain and retinal hemorrhages, Myopathy |
| DNMT3A | Tatton-Brown-Rahman syndrome |
| DOCK6 | Adams-Oliver syndrome |
| DOK7 | Myasthenic syndrome, congenital |
| DPAGT1 | Congenital disorder of glycosylation, Myasthenic syndrome, congenital |
| DVL1 | Robinow syndrome |
| DYM | Dyggve-Melchior-Clausen dysplasia, Smith-McCort dysplasia |
| DYNC1H1 | Charcot-Marie-Tooth disease, Mental retardation, Spinal muscular atrophy |
| DYNC2H1 | Asphyxiating thoracic dysplasia (ATD; Jeune), SRPS type 2 (Majewski), Short -rib thoracic dysplasia with or without polydactyly type 1, Short -rib thoracic dysplasia with or without polydactyly type 3 |
| DYRK1A | Mental retardation |
| EBP | Chondrodysplasia punctata, Male EBP disorder with neurologic defects (MEND) |
| ECEL1 | Arthrogryposis |
| EDN3 | Central hypoventilation syndrome, congenital, Hirschsprung disease, Waardenburg syndrome |
| EDNRB | ABCD syndrome, Hirschsprung disease, Waardenburg syndrome |
| EFEMP2 | Cutis laxa |
| EFNB1 | Craniofrontonasal dysplasia |
| EFTUD2 | Esophageal atresia, syndromic, Mandibulofacial dysostosis with microcephaly |
| EGR2 | Charcot-Marie-Tooth disease, Dejerine-Sottas disease, Neuropathy |
| EIF2AK3 | SED, Wolcott-Rallison type |
| EIF2B5 | Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy |
| ELN | Cutis laxa, Supravalvular aortic stenosis |
| EMD | Emery-Dreifuss muscular dystrophy |
| EMX2 | Schizencephaly |
| ENAM | Amelogenesis imperfecta |
| ENPP1 | Arterial calcification, Hypophosphatemic rickets |
| EOGT | Adams-Oliver syndrome |
| EP300 | Rubinstein-Taybi syndrome |
| ERCC5 | Xeroderma pigmentosum, Xeroderma pigmentosum/Cockayne syndrome |
| ERCC6 | De Sanctis-Cacchione syndrome, Xeroderma Pigmentosum-Cockayne Syndrome |
| ERCC8 | Cockayne syndrome, UV-sensitive syndrome |
| ESCO2 | Roberts syndrome, SC phocomelia syndrome |
| EVC | Ellis-van Creveld syndrome, Weyers acrofacial dysostosis |
| EVC2 | Ellis-van Creveld syndrome, Weyers acrodental dysostosis |
| EXOSC3 | Pontocerebellar hypoplasia |
| EXT1 | Multiple cartilagenious exostoses 1 |
| EXT2 | Multiple cartilagenious exostoses 2 |
| EYA1 | Branchiootic syndrome, Branchiootorenal syndrome, Otofaciocervical syndrome |
| EZH2 | Weaver syndrome |
| FAM20A | Amelogenesis imperfecta (Enamel-renal syndrome) |
| FAM20C | Hypophosphatemia, hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis (Raine syndrome) |
| FAM83H | Amelogenesis imperfecta |
| FANCB | Fanconi anemia |
| FANCC | Fanconi anemia |
| FBLN5 | Cutis laxa, Macular degeneration, age-related |
| FBN1 | Acromicric dysplasia, Geleophysic dysplasia, MASS syndrome, Marfan syndrome, Shprintzen-Goldberg syndrome, Weill-Marchesani syndrome |
| FBN2 | Congenital contractural arachnodactyly (Beals syndrome) |
| FGD1 | Aarskog-Scott syndrome, Mental retardation, syndromic |
| FGF3 | Deafness, congenital with inner ear agenesis, microtia, and microdontia |
| FGF8 | Hypogonadotropic hypogonadism |
| FGF23 | Hypophosphatemic rickets, Tumoral calcinosis, hyperphosphatemic |
| FGFR1 | Hartsfield syndrome, Hypogonadotropic hypogonadism, Osteoglophonic Dwarfism - Craniostenosis, Pfeiffer syndrome, Trigonocephaly |
| FGFR2 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Apert syndrome, Beare-Stevenson cutis gyrata syndrome, Bent bone dysplasia, Craniofacial-skeletal-dermatological dysplasia, Crouzon syndrome, Jackson-Weiss syndrome, Lacrimoauriculodentodigital syndrome, Pfeiffer syndrome |
| FGFR3 | Achondroplasia, Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome, Crouzon syndrome with acanthosis nigricans, Hypochondroplasia, Lacrimoauriculodentodigital syndrome, Muenke syndrome, SADDAN, Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 2 |
| FH | Hereditary leiomyomatosis and renal cell cancer |
| FHL1 | Emery-Dreifuss muscular dystrophy, Myopathy with postural muscle atrophy, Reducing bod myopathy |
| FKBP10 | Bruck syndrome type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| FKBP14 | Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
| FKRP | Muscular dystrophy-dystroglycanopathy |
| FKTN | Dilated cardiomyopathy (DCM), Muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (limb-girdle) |
| FLNA | Frontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects |
| FLNB | Atelosteogenesis type 1, Atelosteogenesis type 3, Larsen syndrome (dominant), Spondylo-carpal-tarsal dyspasia |
| FOXH1 | Congenital heart malformations, Holoprosencephaly |
| FOXL2 | Blepharophimosis, epicanthus inversus, and ptosis, Premature ovarian failure |
| FREM1 | Bifid nose, Manitoba oculotrichoanal syndrome, Trigonocephaly |
| GAA | Glycogen storage disease |
| GBA | Gaucher disease |
| GBE1 | Glycogen storage disease |
| GDF5 | Acromesomelic dysplasia, Hunter-Thompson, Brachydactyly type A2, Brachydactyly type C, Chondrodysplasia, Fibular hypoplasia and complex brachydactyly, Grebe dysplasia, Multiple synostoses syndrome, Symphalangism, proximal |
| GFAP | Alexander disease |
| GFPT1 | Myasthenic syndrome, congenital |
| GH1 | Isolated growth hormone deficiency, Kowarski syndrome |
| GHR | Growth hormone insensitivity syndrome (Laron syndrome) |
| GHRHR | Isolated growth hormone deficiency |
| GJA1 | Oculodentodigital dysplasia mild type, Oculodentodigital dysplasia severe type, Syndactyly type 3 |
| GLE1 | Arthrogryposis, lethal, with anterior horn cell disease, Lethal congenital contracture syndrome |
| GLI2 | Culler-Jones syndrome |
| GLI3 | Acrocallosal syndrome, Grieg cephalopolysndactyly syndrome, Pallister-Hall syndrome, Postaxial polydactyly type A, Preaxial polydactyly type 3, Preaxial polydactyly type 4 |
| GMPPB | Limb-girdle muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| GNAS | Albright hereditary osteodystrophy, McCune-Albright syndrome, Progressive osseous heteroplasia, Pseudohypoparathyroidism |
| GNPAT | Rhizomelic chondrodysplasia punctata, rhizomelic |
| GPC3 | Simpson-Golabi-Behmel syndrome |
| GPSM2 | Chudley-McCullough syndrome, Deafness |
| GRIA3 | Mental retardation |
| HDAC8 | Cornelia de Lange syndrome |
| HEPACAM | Megalencephalic leukoencephalopathy with subcortical cysts, remitting |
| HESX1 | Pituitary hormone deficiency, combined, Septooptic dysplasia |
| HOXA13 | Guttmacher syndrome, Hand-foot-genital syndrome, Hand-foot-uterus syndrome |
| HOXD13 | Brachydactyly type D, Brachydactyly-syndactyly syndrome, Syndactyly, Synopolydactyly, Synopolydactyly with clefting |
| HSPG2 | Dyssegmental dysplasia Rolland-Desbuquis type, Dyssegmental dysplasia Silverman-Handmaker type, Schwartz-Jampel syndrome |
| HUWE1 | Mental retardation, syndromic, Turner |
| IFT80 | Asphyxiating thoracic dysplasia (ATD; Jeune), Short -rib thoracic dysplasia with or without polydactyly |
| IFT122 | Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Sensenbrenner syndrome |
| IFT140 | Asphyxiating thoracic dysplasia (ATD; Jeune), Short -rib thoracic dysplasia with or without polydactyly |
| IFT172 | Asphyxiating thoracic dysplasia (ATD; Jeune), Retinitis pigmentosa, Short -rib thoracic dysplasia with or without polydactyly |
| IGF1 | Insulin-like growth factor I deficiency |
| IGF1R | Insulin-like growth factor I, resistance |
| IGFALS | Insulin-like growth factor-binding protein, acid-labile subunit, deficiency |
| IHH | Acrocapitofemoral dysplasia, Brachydactyly, Syndactyly type Lueken |
| IKBKG | Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, Immunodeficiency, Incontinentia pigmenti, Invasive pneumococcal disease, recurrent, isolated, Osteopetrosis with ectodermal dysplasia and immune defect (OLEDAID) |
| INSR | Donohoe syndrome, Hyperinsulinemic hypoglycemia, familial, Rabson-Mendenhall syndrome |
| IRF6 | Orofacial cleft, Popliteal pterygium syndrome, van der Woude syndrome |
| IRS1 | Diabetes mellitus, noninsulin-dependent |
| ISPD | Muscular dystrophy-dystroglycanopathy |
| KAT6B | Genitopatellar syndrome, Ohdo syndrome, SBBYS variant |
| KBTBD13 | Nemaline myopathy |
| KDM6A | Kabuki syndrome |
| KIAA0196 | Ritscher-Schinzel syndrome (3C syndrome), Spastic paraplegia |
| KIF1BP | Goldberg-Shprintzen megacolon syndrome |
| KIF7 | Acrocallosal syndrome, Al-Gazali-Bakalinova syndrome, Hydrolethalus syndrome, Joubert syndrome |
| KIF11 | Microcephaly |
| KIT | Gastrointestinal stromal tumor |
| KLHL40 | Nemaline myopathy |
| KMT2D | Kabuki syndrome |
| KRAS | Cardiofaciocutaneous syndrome, Noonan syndrome |
| KRIT1 | Cerebral cavernous malformations |
| L1CAM | CRASH syndrome, Corpus callosum, partial agenesis, Hydrocephalus due to congenital stenosis of aqueduct of Sylvius, Mental retardation, aphasia, shuffling gait, and adducted thumbs (MASA) syndrome, Spastic |
| LAMA2 | Muscular dystrophy, congenital merosin-deficient, Schizophrenia |
| LAMP2 | Danon disease |
| LARGE | Muscular dystrophy-dystroglycanopathy |
| LBR | Greenberg/HEM skeletal dysplasia, Hydrops-ectopic calcification-moth-eaten skeletal dysplasia, Pelger-Huet anomaly, Reynolds syndrome |
| LEMD3 | Buschke-Ollendorff syndrome, Osteopoikilosis |
| LHX3 | Pituitary hormone deficiency, combined |
| LHX4 | Pituitary hormone deficiency, combined |
| LIFR | Schwartz-Jampel type 2 syndrome, Stuve-Wiedemann dysplasia |
| LIG4 | LIG4 syndrome, Severe combined immunodeficiency with sensitivity to ionizing radiation |
| LMNA | Dilated cardiomyopathy (DCM), Emery-Dreiffus muscular dystrophy, Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Lipodystrophy (Dunnigan), Malouf syndrome, Mandibuloacral dysplasia type A, Muscular dystrophy, congenital, LMNA-related, Progeria Hutchinson-Gilford type |
| LMX1B | Nail-patella syndrome |
| LRP4 | Cenani-Lenz syndactyly syndrome, Myasthenic syndrome, congenital, Sclerosteosis |
| LRP5 | Exudative vitreoretinopathy, Hyperostosis, endosteal, LRP5 primary osteoporosis, Osteopetrosis late-onset form type 1, Osteoporosis-pseudoglioma syndrome, Osteosclerosis, Van Buchem disease |
| LTBP2 | Glaucoma, primary congenital, Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Weill-Marchesani syndrome |
| MASP1 | 3MC syndrome |
| MATN3 | Multiple epiphyseal dysplasia type 5 (EDM5), Spondyloepimetaphyseal dysplasia Matrilin type |
| MBD5 | Mental retardation |
| MCPH1 | Microcephaly |
| MED12 | FG syndrome, Lujan-Fryns syndrome, Mental retardation, with Marfanoid habitus, Ohdo syndrome, Opitz-Kaveggia syndrome |
| MEF2C | Mental retardation |
| MID1 | Opitz GBBB syndrome |
| MITF | Melanoma, cutaneous malignant, Renal cell carcinoma with or without malignant melanoma, Tietz albinism-deafness syndrome, Waardenburg syndrome |
| MLC1 | Megalencephalic leukoencephalopathy with subcortical cysts |
| MMP9 | Metaphyseal anadysplasia |
| MPZ | Charcot-Marie-Tooth disease, Dejerine-Sottas disease, Neuropathy, Roussy-Levy syndrome |
| MRE11A | Ataxia-telangiectasia-like disorder-1 |
| MSX2 | Craniosynostosis Boston type, Parietal foramina, Parietal foramina with cleidocranial dysplasia |
| MTM1 | Myopathy, centronuclear |
| MUSK | Myasthenic syndrome, congenital |
| MYBPC1 | Arthrogryposis, Lethal congenital contractural syndrome |
| MYH2 | Inclusion body myopathy |
| MYH3 | Arthrogryposis |
| MYH7 | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Myopathy, distal, Myopathy, myosin storage |
| NALCN | Congenital contractures of the limbs and face, hypotonia, and developmental delay, Neuroaxonal neurodegeneration, infantile, with facial dysmophism |
| NDE1 | Lissencephaly, Microhydranencephaly |
| NEB | Nemaline myopathy |
| NEK1 | SRPS type 2 (Majewski), Short -rib thoracic dysplasia with or without polydactyly |
| NF1 | Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome |
| NF2 | Neurofibromatosis, Schwannomatosis |
| NFIX | Marshall-Smithsyndrome |
| NHEJ1 | Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation |
| NIPBL | Cornelia de Lange syndrome |
| NODAL | Heterotaxy, visceral |
| NOG | Brachydactyly type B2, Multiple synostosis syndrome, Stapes ankylosis with broad thumb and toes (Teunissen-Cremers syndrome), Symphalangism, proximal, Tarsal-carpal coalition syndrome |
| NOTCH1 | Aortic valve disease |
| NOTCH2 | Alagille syndrome, Hajdu-Cheney syndrome |
| NPR2 | Acromesomelic dysplasia type Maroteaux, Epiphyseal chondrodysplasia, Miura, Short stature with nonspecific skeletal abnormalities |
| NR5A1 | 46,XY sex reversal, Adrenocortical insufficiency, Premature ovarian failure |
| NRG1 | Nonsyndromic Hirschsprung disease |
| NSD1 | Beckwith-Wiedemann syndrome, Sotos syndrome, Weaver syndrome |
| NSDHL | CK syndrome, Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome) |
| OBSL1 | 3-M syndrome |
| OCRL | Dent disease, Lowe syndrome |
| OFD1 | Joubert syndrome, Orofaciodigital syndrome, Retinitis pigmentosa, Simpson-Golabi-Behmel syndrome |
| OPHN1 | Mental retardation, with cerebellar hypoplasia and distinctive facial appearance |
| ORC1 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
| ORC4 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
| ORC6 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
| OTX2 | Microphthalmia, syndromic, Pituitary hormone deficiency, combined, Retinal dystrophy, early-onset, and pituitary dysfunction |
| P3H1 | Osteogenesis imperfecta |
| PAFAH1B1 | Lissencephaly, Subcortical laminar heterotopia |
| PAPSS2 | Brachyolmia 4 with mild epiphyseal and metaphyseal changes, SEMD PAPPS2 type |
| PAX3 | Craniofacial-deafness-hand syndrome, Waardenburg syndrome |
| PAX6 | Aniridia, Aniridia, cerebellar ataxia, and mental retardation (Gillespie syndrome), Cataract with late-onset corneal dystrophy, Coloboma, ocular, Foveal hypoplasia, Keratitis, Morning glory disc anomaly, Optic nerve hypoplasia, Peters anomaly |
| PCNT | Microcephalic osteodysplastic primordial dwarfism |
| PDCD10 | Cerebral cavernous malformations |
| PEX7 | Refsum disease, Rhizomelic CDP type 1 |
| PHEX | Hypophosphatemic rickets |
| PHF6 | Borjeson-Forssman-Lehmann syndrome |
| PIEZO2 | Distal arthrogryposis, Marden-Walker syndrome |
| PIGA | Multiple congenital anomalies-hypotonia-seizures syndrome |
| PIK3CA | CLOVES, Cowden syndrome |
| PITX2 | Axenfeld-Rieger syndrome, Iridogoniodysgenesis, Peters anomaly, Ring dermoid of cornea |
| PLOD1 | Ehlers-Danlos syndrome |
| PLOD2 | Bruck syndrome, Osteogenesis imperfecta type 3 |
| PMM2 | Congenital disorder of glycosylation |
| PNKP | Ataxia-oculomotor, Epileptic encephalopathy, early infantile |
| POLR1C | Treacher Collins syndrome |
| POMGNT1 | Muscular dystrophy-dystroglycanopathy |
| POMT1 | Muscular dystrophy-dystroglycanopathy |
| POMT2 | Muscular dystrophy-dystroglycanopathy |
| POR | Antley-Bixler syndrome, Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency |
| POU1F1 | Pituitary hormone deficiency, combined |
| PPIB | Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| PQBP1 | Renpenning syndrome |
| PRKAR1A | Acrodysostosis, Carney complex, Myxoma, intracardiac, Pigmented nodular adrenocortical disease |
| PROP1 | Pituitary hormone deficiency, combined |
| PTCH1 | Basal cell nevus syndrome |
| PTEN | Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Lhermitte-Duclos syndrome |
| PTH1R | Blomstrand dysplasia, Eiken dysplasia, Failure of tooth eruption, Metaphyseal chondrodysplasia Jansen type |
| PTPN11 | LEOPARD syndrome, Metachondromatosis, Noonan syndrome |
| PYCR1 | Cutis laxa AR type 2B |
| RAB3GAP1 | Warburg micro syndrome |
| RAB3GAP2 | Martsolf syndrome, Warburg micro syndrome |
| RAB39B | Mental retardation, Waisman parkinsonism-mental retardation syndrome |
| RAF1 | Dilated cardiomyopathy (DCM), LEOPARD syndrome, Noonan syndrome |
| RAPSN | Myasthenic syndrome, congenital |
| RARS2 | Pontocerebellar hypoplasia |
| RASA1 | Capillary malformation-arteriovenous malformation, Parkes Weber syndrome, Spinal arteriovenous anomalies |
| RBBP8 | Jawad syndrome, Seckel syndrome |
| RBPJ | Adams-Oliver syndrome |
| RECQL4 | Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndrome |
| RELN | Epilepsy, familial temporal lobe, Lissencephaly |
| RET | Central hypoventilation syndrome, congenital, Hirschsprung disease, Medullary thyroid carcinoma, Multiple endocrine neoplasia, Pheochromocytoma |
| RMRP | Anauxetic dysplasia, Cartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis |
| RNU4ATAC | Microcephalic osteodysplastic primordial dwarfism type 1, Microcephalic osteodysplastic primordial dwarfism type 3, Roifman syndrome |
| ROR2 | Brachydactyly type B, Robinow syndrome recessive type |
| RUNX2 | Cleidocranial dysplasia, Metaphyseal dysplasia with maxillary hypoplasia |
| RYR1 | Central core disease, Centronuclear myopathy, Malignant hyperthermia, Minicore myopathy, Minicore myopathy with external ophthalmoplegia, Multicore myopathy |
| SBDS | Aplastic anemia, Severe spondylometaphyseal dysplasia, Shwachman-Diamond syndrome |
| SCO2 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Hypertrophic cardiomyopathy (HCM), Leigh syndrome, Myopia |
| SELENON | Muscular dystrophy, rigid spine, Myopathy, congenital, with fiber- disproportion |
| SERPINF1 | Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| SERPINH1 | Osteogenesis imperfecta type 3 |
| SF3B4 | Acrofacial dysostosis 1, Nager |
| SHH | Holoprosencephaly, Microphthalmia with coloboma |
| SHOX | Langer mesomelic dysplasia, Leri-Weill dyschondrosteosis, Short stature |
| SIL1 | Marinesco-Sjogren syndrome |
| SIX3 | Holoprosencephaly |
| SIX5 | Branchiootorenal syndrome |
| SKI | Shprintzen-Goldberg syndrome |
| SLC12A6 | Agenesis of the corpus callosum with peripheral neuropathy (Andermann syndrome) |
| SLC26A2 | Achondrogenesis type 1B, Atelosteogenesis type 2, De la Chapelle dysplasia, Diastrophic dysplasia, Recessive Multiple Epiphyseal dysplasia |
| SLC29A3 | Dysosteosclerosis, Histiocytosis-lymphadenopathy plus syndrome |
| SLC34A3 | Hypophosphatemic rickets with hypercalciuria |
| SLC39A13 | Spondylodysplastic Ehlers-Danlos syndrome |
| SLCO2A1 | Hypertrophic osteoarthropathy |
| SMAD3 | Aneurysms-osteoarthritis syndrome, Loeys-Dietz syndrome |
| SMAD4 | Hereditary hemorrhagic telangiectasia, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre dysplasia, Polyposis, juvenile intestinal |
| SMARCA2 | Nicolaides-Baraitser syndrome |
| SMARCA4 | Rhabdoid tumor predisposition syndrome |
| SMARCAL1 | Schimke immunoosseous dysplasia |
| SMARCB1 | Rhabdoid tumor predisposition syndrome, Schwannomatosis |
| SMC1A | Cornelia de Lange syndrome |
| SMC3 | Cornelia de Lange syndrome |
| SOS1 | Noonan syndrome |
| SOX2 | Microphthalmia, syndromic |
| SOX3 | Panhypopituitarism |
| SOX9 | 46,XY sex reversal, Brachydactyly with anonychia (Cooks syndrome), Campomelic dysplasia |
| SOX10 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease |
| SPRED1 | Legius syndrome |
| SRCAP | Floating-Harbor syndrome |
| SRPX2 | Rolandic epilepsy, mental retardation, and speech dyspraxia |
| SRY | 46,XX disorder of sex development, 46,XY disorder of sex development |
| STAT5B | Growth hormone insensitivity with immunodeficiency |
| STIL | Microcephaly |
| SYN1 | Epilepsy, with variable learning disabilities and behavior disorders |
| TBX3 | Ulnar-Mammary syndrome |
| TBX19 | Adrenocorticotropic hormone deficiency |
| TCF12 | Craniosynostosis |
| TCIRG1 | Osteopetrosis, severe neonatal or infantile forms (OPTB1) |
| TCOF1 | Treacher Collins syndrome |
| TCTN3 | Joubert syndrome, Orofaciodigital syndrome (Mohr-Majewski syndrome) |
| TGFB1 | Diaphyseal dysplasia Camurati-Engelmann |
| TGFB2 | Loeys-Dietz syndrome |
| TGFB3 | Arrhythmogenic right ventricular dysplasia, Loeys-Dietz syndrome (Reinhoff syndrome) |
| TGFBR1 | Loeys-Dietz syndrome |
| TGFBR2 | Loeys-Dietz syndrome |
| TGIF1 | Holoprosencephaly |
| TK2 | Mitochondrial DNA depletion syndrome |
| TMEM5 | Muscular dystrophy-dystroglycanopathy |
| TMEM43 | Arrhythmogenic right ventricular dysplasia, Emery-Dreifuss muscular dystrophy |
| TNFRSF11A | Familial expansile osteolysis, Osteopetrosis, severe neonatal or infantile forms (OPTB1), Paget disease of bone |
| TNFRSF11B | Paget disease of bone, juvenile |
| TNNI2 | Arthrogryposis multiplex congenita |
| TNNT1 | Nemaline myopathy |
| TNXB | Ehlers-Danlos syndrome |
| TP63 | ADULT syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, Limb-mammary syndrome, Orofacial cleft, Rapp-Hodgkin syndrome, Split-hand/foot malformation |
| TPM2 | Arthrogryposis, distal, CAP myopathy, Nemaline myopathy |
| TPM3 | CAP myopathy, Myopathy, congenital, with fiber- disproportion, Nemaline myopathy |
| TRAPPC2 | Spondyloepiphyseal dysplasia tarda |
| TRPS1 | Trichorhinophalangeal syndrome type 1, Trichorhinophalangeal syndrome type 3 |
| TRPV4 | Brachyolmia (autosomal dominant type), Charcot-Marie-Tooth disease, Familial Digital arthropathy with brachydactyly, Hereditary motor and sensory neuropathy, Metatropic dysplasia, Parastremmatic dwarfism, Spinal muscular atrophy, Spondyloepiphyseal dysplasia Maroteaux type, Spondylometaphyseal dysplasia Kozlowski type |
| TSC1 | Lymphangioleiomyomatosis, Tuberous sclerosis |
| TSC2 | Lymphangioleiomyomatosis, Tuberous sclerosis |
| TSEN2 | Pontocerebellar hypoplasia |
| TSEN54 | Pontocerebellar hypoplasia |
| TTC7A | Gastrointestinal defects and immunodeficiency syndrome |
| TTC21B | Asphyxiating thoracic dysplasia (ATD; Jeune), Nephronophthisis, Short-rib thoracic dysplasia |
| TTR | Amyloidosis, hereditary, transthyretin-related, Dystransthyretinemic hyperthyroxinemia |
| TUBA1A | Lissencephaly |
| TUBA8 | Polymicrogyria with optic nerve hypoplasia |
| TUBB2B | Polymicrogyria, asymmetric |
| TUBB3 | Cortical dysplasia, complex, with other brain malformations, Fibrosis of extraocular muscles, congenital |
| TWIST1 | Craniosynostosis, Robinow-Sorauf syndrome, Saethre-Chotzen syndrome |
| TXNL4A | Burn-McKeown syndrome |
| TYROBP | Nasu-Hakola disease, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy |
| UBE2A | Mental retardation, syndromic, Nascimento |
| UPF3B | Mental retardation, syndromic |
| VDR | Vitamin D-dependent rickets |
| VLDLR | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome |
| VPS33B | Arthrogryposis - renal dysfunction - cholestasis |
| VRK1 | Pontocerebellar hypoplasia |
| WDR19 | Asphyxiating thoracic dysplasia (ATD; Jeune), Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Nephronophthisis, Retinitis pigmentosa, Senior-Loken syndrome, Short -rib thoracic dysplasia with or without polydactyly |
| WDR34 | Asphyxiating thoracic dysplasia (ATD; Jeune), Short -rib thoracic dysplasia with or without polydactyly |
| WDR35 | Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Short rib-polydactyly syndrome type 5 |
| WDR62 | Microcephaly |
| WISP3 | Arthropathy, progressive pseudorheumatoid, of childhood, Spondyloepiphyseal dysplasia tarda with progressive arthropathy |
| WNT5A | Robinow syndrome |
| WNT10A | Odontoonychodermal dysplasia, Schopf-Schulz-Passarge syndrome, Tooth agenesis, selective |
| YWHAE | 17p13.3 microduplication syndrome, Distal 17p13.3 microdeletion syndrome, Endometrial stromal sarcoma, Miller-Dieker syndrome |
| ZBTB42 | Lethal congenital contracture syndrome |
| ZEB2 | Mowat-Wilson syndrome |
| ZIC2 | Holoprosencephaly |
| ZNF469 | Brittle cornea syndrome |
Panel Completo de Enfermedades y Displasias Esqueléticas
| ACP5 | Spondyloenchondrodysplasia with immune dysregulation |
| ACVR1 | Fibrodysplasia ossificans progressiva |
| ADAMTS10 | Weill-Marchesani syndrome |
| ADAMTSL2 | Geleophysic dysplasia |
| AGPS | Rhizomelic chondrodysplasia punctata type 3 |
| AKT1 | Cowden syndrome, Proteus syndrome |
| ALPL | Hypophosphatasia perinatal lethal, infantile, juvenile and adult forms, Odontohypophosphatasia |
| ALX3 | Frontonasal dysplasia type 1 |
| ALX4 | Frontonasal dysplasia type 2, Parietal foramina |
| AMER1 | Osteopathia striata with cranial sclerosis |
| ANKH | Calcium pyrophosphate deposition disease (familial chondrocalcinosis type 2), Craniometaphyseal dysplasia autosomal dominant type |
| ANO5 | Gnathodiaphyseal dysplasia, LGMD2L and distal MMD3 muscular dystrophies |
| ARHGAP31 | Adams-Oliver syndrome |
| ARSE | Chondrodysplasia punctata X-linked recessive, brachytelephalangic type (CDPX1) |
| ATP6V0A2 | Cutis laxa, Wrinkly skin syndrome |
| B3GALT6 | Ehlers-Danlos syndrome, Spondyloepimetaphyseal dysplasia with joint laxity |
| B4GALT7 | Ehlers-Danlos syndrome, progeroid form |
| BHLHA9 | Gollop-Wolfgang, Split hand-foot malformation with long bone deficiency (SHFLD3), Syndactyly Malik-Percin type, mesoaxial synostotic, with phalangeal reduction |
| BMP1 | Osteogenesis imperfecta |
| BMP2 | Brachydactyly type A2 |
| BMPR1B | Acromesomelic dysplasia, Demirhan, Brachydactyly C/Symphalangism-like pheno, Brachydactyly type A2 |
| CA2 | Osteopetrosis, with renal tubular acidosis |
| CANT1 | Desbuquois dysplasia |
| CASR | Familial Hypocalciuric hypercalcemia with transient Neonatal hyperparathyroidism, Hypocalcemia, Neonatal hyperparathyroidism |
| CDC6 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
| CDKN1C | Beckwith-Wiedemann syndrome, IMAGE syndrome |
| CDT1 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
| CHST3 | Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) |
| CHST14 | Ehlers-Danlos syndrome, musculocontractural |
| CLCN5 | Dent disease, Hypophosphatemic rickets,, Nephrolithiasis, I, Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis |
| CLCN7 | Osteopetrosis |
| COL1A1 | Caffey disease, Ehlers-Danlos syndrome, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| COL1A2 | Ehlers-Danlos syndrome, cardiac valvular form, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| COL2A1 | Achondrogenesis type 2, Avascular necrosis of femoral head, Czech dysplasia, Epiphyseal dysplasia, with myopia and deafness, Hypochondrogenesis, Kniest dysplasia, Mild SED with premature onset arthrosis, Platyspondylic dysplasia Torrance type, Rhegmatogenous retinal detachment, SED with metatarsal shortening, Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloperipheral dysplasia, Stickler syndrome type 1 |
| COL9A1 | Multiple epiphyseal dysplasia type 6 (EDM6), Stickler syndrome recessive type |
| COL9A2 | Multiple epiphyseal dysplasia type 2 (EDM2), Stickler syndrome |
| COL9A3 | Multiple epihyseal dysplasia type 3 (EDM3) |
| COL10A1 | Metaphyseal chondrodysplasia, Schmid |
| COL11A1 | Fibrochondrogenesis, Marshall syndrome, Stickler syndrome type 2 |
| COL11A2 | Deafness, Fibrochondrogenesis, Otospondylomegaepiphyseal dysplasia, Stickler syndrome type 3 (non-ocular), Weissenbacher-Zweymuller syndrome |
| COMP | Multiple ephiphyseal dysplasia, Pseudoachondroplasia |
| CREBBP | Rubinstein-Taybi syndrome |
| CRTAP | Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| CSPP1 | Jeune Asphyxiating Thoracic Dystrophy, Joubert syndrome |
| CTSK | Pycnodysostosis |
| CUL7 | 3-M syndrome, Yakut short stature syndrome |
| CYP27B1 | Vitamin D-dependent rickets |
| DHCR24 | Desmosterolosis |
| DLL3 | Spondylocostal dysostosis |
| DLL4 | Adams-Oliver syndrome |
| DLX3 | Amelogenesis imperfecta, Trichodontoosseous syndrome |
| DOCK6 | Adams-Oliver syndrome |
| DVL1 | Robinow syndrome |
| DYM | Dyggve-Melchior-Clausen dysplasia, Smith-McCort dysplasia |
| DYNC2H1 | Asphyxiating thoracic dysplasia (ATD; Jeune), SRPS type 2 (Majewski), Short -rib thoracic dysplasia with or without polydactyly type 1, Short -rib thoracic dysplasia with or without polydactyly type 3 |
| EBP | Chondrodysplasia punctata, Male EBP disorder with neurologic defects (MEND) |
| EFNB1 | Craniofrontonasal dysplasia |
| EFTUD2 | Esophageal atresia, syndromic, Mandibulofacial dysostosis with microcephaly |
| EIF2AK3 | SED, Wolcott-Rallison type |
| ENAM | Amelogenesis imperfecta |
| ENPP1 | Arterial calcification, Hypophosphatemic rickets |
| EOGT | Adams-Oliver syndrome |
| EP300 | Rubinstein-Taybi syndrome |
| ESCO2 | Roberts syndrome, SC phocomelia syndrome |
| EVC | Ellis-van Creveld syndrome, Weyers acrofacial dysostosis |
| EVC2 | Ellis-van Creveld syndrome, Weyers acrodental dysostosis |
| EXT1 | Multiple cartilagenious exostoses 1 |
| EXT2 | Multiple cartilagenious exostoses 2 |
| EZH2 | Weaver syndrome |
| FAM20A | Amelogenesis imperfecta (Enamel-renal syndrome) |
| FAM20C | Hypophosphatemia, hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis (Raine syndrome) |
| FAM83H | Amelogenesis imperfecta |
| FANCB | Fanconi anemia |
| FANCC | Fanconi anemia |
| FBN1 | Acromicric dysplasia, Geleophysic dysplasia, MASS syndrome, Marfan syndrome, Shprintzen-Goldberg syndrome, Weill-Marchesani syndrome |
| FBN2 | Congenital contractural arachnodactyly (Beals syndrome) |
| FGF23 | Hypophosphatemic rickets, Tumoral calcinosis, hyperphosphatemic |
| FGFR1 | Hartsfield syndrome, Hypogonadotropic hypogonadism, Osteoglophonic Dwarfism - Craniostenosis, Pfeiffer syndrome, Trigonocephaly |
| FGFR2 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Apert syndrome, Beare-Stevenson cutis gyrata syndrome, Bent bone dysplasia, Craniofacial-skeletal-dermatological dysplasia, Crouzon syndrome, Jackson-Weiss syndrome, Lacrimoauriculodentodigital syndrome, Pfeiffer syndrome |
| FGFR3 | Achondroplasia, Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome, Crouzon syndrome with acanthosis nigricans, Hypochondroplasia, Lacrimoauriculodentodigital syndrome, Muenke syndrome, SADDAN, Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 2 |
| FKBP10 | Bruck syndrome type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| FLNA | Frontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects |
| FLNB | Atelosteogenesis type 1, Atelosteogenesis type 3, Larsen syndrome (dominant), Spondylo-carpal-tarsal dyspasia |
| GDF5 | Acromesomelic dysplasia, Hunter-Thompson, Brachydactyly type A2, Brachydactyly type C, Chondrodysplasia, Fibular hypoplasia and complex brachydactyly, Grebe dysplasia, Multiple synostoses syndrome, Symphalangism, proximal |
| GJA1 | Oculodentodigital dysplasia mild type, Oculodentodigital dysplasia severe type, Syndactyly type 3 |
| GLI3 | Acrocallosal syndrome, Grieg cephalopolysndactyly syndrome, Pallister-Hall syndrome, Postaxial polydactyly type A, Preaxial polydactyly type 3, Preaxial polydactyly type 4 |
| GNAS | Albright hereditary osteodystrophy, McCune-Albright syndrome, Progressive osseous heteroplasia, Pseudohypoparathyroidism |
| GNPAT | Rhizomelic chondrodysplasia punctata, rhizomelic |
| HDAC8 | Cornelia de Lange syndrome |
| HOXA13 | Guttmacher syndrome, Hand-foot-genital syndrome, Hand-foot-uterus syndrome |
| HOXD13 | Brachydactyly type D, Brachydactyly-syndactyly syndrome, Syndactyly, Synopolydactyly, Synopolydactyly with clefting |
| HSPG2 | Dyssegmental dysplasia Rolland-Desbuquis type, Dyssegmental dysplasia Silverman-Handmaker type, Schwartz-Jampel syndrome |
| IFT80 | Asphyxiating thoracic dysplasia (ATD; Jeune), Short -rib thoracic dysplasia with or without polydactyly |
| IFT122 | Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Sensenbrenner syndrome |
| IFT140 | Asphyxiating thoracic dysplasia (ATD; Jeune), Short -rib thoracic dysplasia with or without polydactyly |
| IFT172 | Asphyxiating thoracic dysplasia (ATD; Jeune), Retinitis pigmentosa, Short -rib thoracic dysplasia with or without polydactyly |
| IHH | Acrocapitofemoral dysplasia, Brachydactyly, Syndactyly type Lueken |
| IKBKG | Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, Immunodeficiency, Incontinentia pigmenti, Invasive pneumococcal disease, recurrent, isolated, Osteopetrosis with ectodermal dysplasia and immune defect (OLEDAID) |
| KAT6B | Genitopatellar syndrome, Ohdo syndrome, SBBYS variant |
| KIF7 | Acrocallosal syndrome, Al-Gazali-Bakalinova syndrome, Hydrolethalus syndrome, Joubert syndrome |
| LBR | Greenberg/HEM skeletal dysplasia, Hydrops-ectopic calcification-moth-eaten skeletal dysplasia, Pelger-Huet anomaly, Reynolds syndrome |
| LEMD3 | Buschke-Ollendorff syndrome, Osteopoikilosis |
| LIFR | Schwartz-Jampel type 2 syndrome, Stuve-Wiedemann dysplasia |
| LMNA | Dilated cardiomyopathy (DCM), Emery-Dreiffus muscular dystrophy, Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Lipodystrophy (Dunnigan), Malouf syndrome, Mandibuloacral dysplasia type A, Muscular dystrophy, congenital, LMNA-related, Progeria Hutchinson-Gilford type |
| LMX1B | Nail-patella syndrome |
| LRP4 | Cenani-Lenz syndactyly syndrome, Myasthenic syndrome, congenital, Sclerosteosis |
| LRP5 | Exudative vitreoretinopathy, Hyperostosis, endosteal, LRP5 primary osteoporosis, Osteopetrosis late-onset form type 1, Osteoporosis-pseudoglioma syndrome, Osteosclerosis, Van Buchem disease |
| LTBP2 | Glaucoma, primary congenital, Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Weill-Marchesani syndrome |
| MATN3 | Multiple epiphyseal dysplasia type 5 (EDM5), Spondyloepimetaphyseal dysplasia Matrilin type |
| MMP9 | Metaphyseal anadysplasia |
| MSX2 | Craniosynostosis Boston type, Parietal foramina, Parietal foramina with cleidocranial dysplasia |
| NEK1 | SRPS type 2 (Majewski), Short -rib thoracic dysplasia with or without polydactyly |
| NF1 | Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome |
| NFIX | Marshall-Smithsyndrome |
| NIPBL | Cornelia de Lange syndrome |
| NOG | Brachydactyly type B2, Multiple synostosis syndrome, Stapes ankylosis with broad thumb and toes (Teunissen-Cremers syndrome), Symphalangism, proximal, Tarsal-carpal coalition syndrome |
| NOTCH2 | Alagille syndrome, Hajdu-Cheney syndrome |
| NPR2 | Acromesomelic dysplasia type Maroteaux, Epiphyseal chondrodysplasia, Miura, Short stature with nonspecific skeletal abnormalities |
| NSD1 | Beckwith-Wiedemann syndrome, Sotos syndrome, Weaver syndrome |
| NSDHL | CK syndrome, Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome) |
| OBSL1 | 3-M syndrome |
| ORC1 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
| ORC4 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
| ORC6 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
| P3H1 | Osteogenesis imperfecta |
| PAPSS2 | Brachyolmia 4 with mild epiphyseal and metaphyseal changes, SEMD PAPPS2 type |
| PCNT | Microcephalic osteodysplastic primordial dwarfism |
| PEX7 | Refsum disease, Rhizomelic CDP type 1 |
| PHEX | Hypophosphatemic rickets |
| PIK3CA | CLOVES, Cowden syndrome |
| PLOD2 | Bruck syndrome, Osteogenesis imperfecta type 3 |
| POLR1C | Treacher Collins syndrome |
| POR | Antley-Bixler syndrome, Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency |
| PPIB | Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| PRKAR1A | Acrodysostosis, Carney complex, Myxoma, intracardiac, Pigmented nodular adrenocortical disease |
| PTH1R | Blomstrand dysplasia, Eiken dysplasia, Failure of tooth eruption, Metaphyseal chondrodysplasia Jansen type |
| PTPN11 | LEOPARD syndrome, Metachondromatosis, Noonan syndrome |
| PYCR1 | Cutis laxa AR type 2B |
| RBPJ | Adams-Oliver syndrome |
| RECQL4 | Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndrome |
| RMRP | Anauxetic dysplasia, Cartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis |
| RNU4ATAC | Microcephalic osteodysplastic primordial dwarfism type 1, Microcephalic osteodysplastic primordial dwarfism type 3, Roifman syndrome |
| ROR2 | Brachydactyly type B, Robinow syndrome recessive type |
| RUNX2 | Cleidocranial dysplasia, Metaphyseal dysplasia with maxillary hypoplasia |
| SBDS | Aplastic anemia, Severe spondylometaphyseal dysplasia, Shwachman-Diamond syndrome |
| SERPINF1 | Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| SERPINH1 | Osteogenesis imperfecta type 3 |
| SF3B4 | Acrofacial dysostosis 1, Nager |
| SHOX | Langer mesomelic dysplasia, Leri-Weill dyschondrosteosis, Short stature |
| SKI | Shprintzen-Goldberg syndrome |
| SLC26A2 | Achondrogenesis type 1B, Atelosteogenesis type 2, De la Chapelle dysplasia, Diastrophic dysplasia, Recessive Multiple Epiphyseal dysplasia |
| SLC29A3 | Dysosteosclerosis, Histiocytosis-lymphadenopathy plus syndrome |
| SLC34A3 | Hypophosphatemic rickets with hypercalciuria |
| SLC39A13 | Spondylodysplastic Ehlers-Danlos syndrome |
| SLCO2A1 | Hypertrophic osteoarthropathy |
| SMAD3 | Aneurysms-osteoarthritis syndrome, Loeys-Dietz syndrome |
| SMAD4 | Hereditary hemorrhagic telangiectasia, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre dysplasia, Polyposis, juvenile intestinal |
| SMARCAL1 | Schimke immunoosseous dysplasia |
| SMC1A | Cornelia de Lange syndrome |
| SMC3 | Cornelia de Lange syndrome |
| SOX9 | 46,XY sex reversal, Brachydactyly with anonychia (Cooks syndrome), Campomelic dysplasia |
| TBX3 | Ulnar-Mammary syndrome |
| TCF12 | Craniosynostosis |
| TCIRG1 | Osteopetrosis, severe neonatal or infantile forms (OPTB1) |
| TCOF1 | Treacher Collins syndrome |
| TCTN3 | Joubert syndrome, Orofaciodigital syndrome (Mohr-Majewski syndrome) |
| TGFB1 | Diaphyseal dysplasia Camurati-Engelmann |
| TGFB2 | Loeys-Dietz syndrome |
| TGFB3 | Arrhythmogenic right ventricular dysplasia, Loeys-Dietz syndrome (Reinhoff syndrome) |
| TGFBR1 | Loeys-Dietz syndrome |
| TGFBR2 | Loeys-Dietz syndrome |
| TNFRSF11A | Familial expansile osteolysis, Osteopetrosis, severe neonatal or infantile forms (OPTB1), Paget disease of bone |
| TNFRSF11B | Paget disease of bone, juvenile |
| TP63 | ADULT syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, Limb-mammary syndrome, Orofacial cleft, Rapp-Hodgkin syndrome, Split-hand/foot malformation |
| TRAPPC2 | Spondyloepiphyseal dysplasia tarda |
| TRPS1 | Trichorhinophalangeal syndrome type 1, Trichorhinophalangeal syndrome type 3 |
| TRPV4 | Brachyolmia (autosomal dominant type), Charcot-Marie-Tooth disease, Familial Digital arthropathy with brachydactyly, Hereditary motor and sensory neuropathy, Metatropic dysplasia, Parastremmatic dwarfism, Spinal muscular atrophy, Spondyloepiphyseal dysplasia Maroteaux type, Spondylometaphyseal dysplasia Kozlowski type |
| TTC21B | Asphyxiating thoracic dysplasia (ATD; Jeune), Nephronophthisis, Short-rib thoracic dysplasia |
| TWIST1 | Craniosynostosis, Robinow-Sorauf syndrome, Saethre-Chotzen syndrome |
| TYROBP | Nasu-Hakola disease, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy |
| VDR | Vitamin D-dependent rickets |
| WDR19 | Asphyxiating thoracic dysplasia (ATD; Jeune), Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Nephronophthisis, Retinitis pigmentosa, Senior-Loken syndrome, Short -rib thoracic dysplasia with or without polydactyly |
| WDR34 | Asphyxiating thoracic dysplasia (ATD; Jeune), Short -rib thoracic dysplasia with or without polydactyly |
| WDR35 | Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Short rib-polydactyly syndrome type 5 |
| WISP3 | Arthropathy, progressive pseudorheumatoid, of childhood, Spondyloepiphyseal dysplasia tarda with progressive arthropathy |
| WNT5A | Robinow syndrome |
Panel Completo de Síndromes de Talla Baja
| AKT1 | Cowden syndrome, Proteus syndrome |
| ATR | Cutaneous telangiectasia and cancer syndrome, Seckel syndrome |
| BMP2 | Brachydactyly type A2 |
| BMP4 | Microphthalmia, syndromic, Orofacial cleft |
| BMPR1A | Polyposis, juvenile intestinal |
| CDC6 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
| CDT1 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
| CENPJ | Microcephaly, Seckel syndrome |
| CEP63 | Seckel syndrome |
| CEP152 | Microcephaly, Seckel syndrome |
| CREBBP | Rubinstein-Taybi syndrome |
| CUL7 | 3-M syndrome, Yakut short stature syndrome |
| DHCR7 | Smith-Lemli-Opitz syndrome |
| EP300 | Rubinstein-Taybi syndrome |
| EYA1 | Branchiootic syndrome, Branchiootorenal syndrome, Otofaciocervical syndrome |
| FGD1 | Aarskog-Scott syndrome, Mental retardation, syndromic |
| FGF3 | Deafness, congenital with inner ear agenesis, microtia, and microdontia |
| FGFR3 | Achondroplasia, Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome, Crouzon syndrome with acanthosis nigricans, Hypochondroplasia, Lacrimoauriculodentodigital syndrome, Muenke syndrome, SADDAN, Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 2 |
| FOXL2 | Blepharophimosis, epicanthus inversus, and ptosis, Premature ovarian failure |
| GH1 | Isolated growth hormone deficiency, Kowarski syndrome |
| GHR | Growth hormone insensitivity syndrome (Laron syndrome) |
| GHRHR | Isolated growth hormone deficiency |
| GLI2 | Culler-Jones syndrome |
| HESX1 | Pituitary hormone deficiency, combined, Septooptic dysplasia |
| IGF1 | Insulin-like growth factor I deficiency |
| IGF1R | Insulin-like growth factor I, resistance |
| IGFALS | Insulin-like growth factor-binding protein, acid-labile subunit, deficiency |
| INSR | Donohoe syndrome, Hyperinsulinemic hypoglycemia, familial, Rabson-Mendenhall syndrome |
| IRS1 | Diabetes mellitus, noninsulin-dependent |
| KRAS | Cardiofaciocutaneous syndrome, Noonan syndrome |
| LHX3 | Pituitary hormone deficiency, combined |
| LHX4 | Pituitary hormone deficiency, combined |
| NIPBL | Cornelia de Lange syndrome |
| NOTCH2 | Alagille syndrome, Hajdu-Cheney syndrome |
| NR5A1 | 46,XY sex reversal, Adrenocortical insufficiency, Premature ovarian failure |
| OBSL1 | 3-M syndrome |
| ORC1 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
| ORC4 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
| ORC6 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
| OTX2 | Microphthalmia, syndromic, Pituitary hormone deficiency, combined, Retinal dystrophy, early-onset, and pituitary dysfunction |
| PCNT | Microcephalic osteodysplastic primordial dwarfism |
| PITX2 | Axenfeld-Rieger syndrome, Iridogoniodysgenesis, Peters anomaly, Ring dermoid of cornea |
| POU1F1 | Pituitary hormone deficiency, combined |
| PROP1 | Pituitary hormone deficiency, combined |
| PTCH1 | Basal cell nevus syndrome |
| PTPN11 | LEOPARD syndrome, Metachondromatosis, Noonan syndrome |
| RAF1 | Dilated cardiomyopathy (DCM), LEOPARD syndrome, Noonan syndrome |
| RBBP8 | Jawad syndrome, Seckel syndrome |
| RNU4ATAC | Microcephalic osteodysplastic primordial dwarfism type 1, Microcephalic osteodysplastic primordial dwarfism type 3, Roifman syndrome |
| SHH | Holoprosencephaly, Microphthalmia with coloboma |
| SHOX | Langer mesomelic dysplasia, Leri-Weill dyschondrosteosis, Short stature |
| SIX3 | Holoprosencephaly |
| SMC1A | Cornelia de Lange syndrome |
| SOS1 | Noonan syndrome |
| SOX2 | Microphthalmia, syndromic |
| SOX3 | Panhypopituitarism |
| STAT5B | Growth hormone insensitivity with immunodeficiency |
| TBX3 | Ulnar-Mammary syndrome |
| TBX19 | Adrenocorticotropic hormone deficiency |
| TGIF1 | Holoprosencephaly |
| ZIC2 | Holoprosencephaly |
Panel de Atresia Gastrointestinal
| CHD7 | CHARGE syndrome, Isolated gonadotropin-releasing hormone deficiency |
| FANCB | Fanconi anemia |
| FANCC | Fanconi anemia |
| GLI3 | Acrocallosal syndrome, Grieg cephalopolysndactyly syndrome, Pallister-Hall syndrome, Postaxial polydactyly type A, Preaxial polydactyly type 3, Preaxial polydactyly type 4 |
| MID1 | Opitz GBBB syndrome |
| SOX2 | Microphthalmia, syndromic |
| TTC7A | Gastrointestinal defects and immunodeficiency syndrome |
Panel de Artrogriposis
| ACTA1 | Myopathy |
| AGRN | Myasthenic syndrome, congenital |
| BIN1 | Myopathy, centronuclear |
| CASK | FG syndrome, Mental retardation, Mental retardation and microcephaly with pontine and cerebellar hypoplasia |
| CFL2 | Nemaline myopathy |
| CHAT | Myasthenic syndrome, congenital |
| CHRNA1 | Myasthenic syndrome, congenital |
| CHRNB1 | Myasthenic syndrome |
| CHRND | Myasthenic syndrome |
| CHRNE | Myasthenic syndrome |
| CHRNG | Escobar syndrome, Multiple pterygium syndrome |
| CHST14 | Ehlers-Danlos syndrome, musculocontractural |
| COL6A2 | Bethlem myopathy, Epilepsy, progressive myoclonic, Myosclerosis, congenital, Ullrich congenital muscular dystrophy |
| COLQ | Myasthenic syndrome, congenital |
| DHCR24 | Desmosterolosis |
| DOK7 | Myasthenic syndrome, congenital |
| DPAGT1 | Congenital disorder of glycosylation, Myasthenic syndrome, congenital |
| ECEL1 | Arthrogryposis |
| EGR2 | Charcot-Marie-Tooth disease, Dejerine-Sottas disease, Neuropathy |
| ERCC5 | Xeroderma pigmentosum, Xeroderma pigmentosum/Cockayne syndrome |
| ERCC6 | De Sanctis-Cacchione syndrome, Xeroderma Pigmentosum-Cockayne Syndrome |
| EXOSC3 | Pontocerebellar hypoplasia |
| FBN2 | Congenital contractural arachnodactyly (Beals syndrome) |
| FHL1 | Emery-Dreifuss muscular dystrophy, Myopathy with postural muscle atrophy, Reducing bod myopathy |
| FKTN | Dilated cardiomyopathy (DCM), Muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (limb-girdle) |
| GBA | Gaucher disease |
| GBE1 | Glycogen storage disease |
| GFPT1 | Myasthenic syndrome, congenital |
| GLE1 | Arthrogryposis, lethal, with anterior horn cell disease, Lethal congenital contracture syndrome |
| KAT6B | Genitopatellar syndrome, Ohdo syndrome, SBBYS variant |
| KLHL40 | Nemaline myopathy |
| MPZ | Charcot-Marie-Tooth disease, Dejerine-Sottas disease, Neuropathy, Roussy-Levy syndrome |
| MTM1 | Myopathy, centronuclear |
| MUSK | Myasthenic syndrome, congenital |
| MYBPC1 | Arthrogryposis, Lethal congenital contractural syndrome |
| MYH2 | Inclusion body myopathy |
| MYH3 | Arthrogryposis |
| NALCN | Congenital contractures of the limbs and face, hypotonia, and developmental delay, Neuroaxonal neurodegeneration, infantile, with facial dysmophism |
| NEB | Nemaline myopathy |
| PIEZO2 | Distal arthrogryposis, Marden-Walker syndrome |
| PLOD2 | Bruck syndrome, Osteogenesis imperfecta type 3 |
| PMM2 | Congenital disorder of glycosylation |
| RAPSN | Myasthenic syndrome, congenital |
| RARS2 | Pontocerebellar hypoplasia |
| SCO2 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Hypertrophic cardiomyopathy (HCM), Leigh syndrome, Myopia |
| SELENON | Muscular dystrophy, rigid spine, Myopathy, congenital, with fiber- disproportion |
| TGFB3 | Arrhythmogenic right ventricular dysplasia, Loeys-Dietz syndrome (Reinhoff syndrome) |
| TK2 | Mitochondrial DNA depletion syndrome |
| TNNI2 | Arthrogryposis multiplex congenita |
| TNNT1 | Nemaline myopathy |
| TPM2 | Arthrogryposis, distal, CAP myopathy, Nemaline myopathy |
| TPM3 | CAP myopathy, Myopathy, congenital, with fiber- disproportion, Nemaline myopathy |
| TRPV4 | Brachyolmia (autosomal dominant type), Charcot-Marie-Tooth disease, Familial Digital arthropathy with brachydactyly, Hereditary motor and sensory neuropathy, Metatropic dysplasia, Parastremmatic dwarfism, Spinal muscular atrophy, Spondyloepiphyseal dysplasia Maroteaux type, Spondylometaphyseal dysplasia Kozlowski type |
| TSEN2 | Pontocerebellar hypoplasia |
| TSEN54 | Pontocerebellar hypoplasia |
| VPS33B | Arthrogryposis - renal dysfunction - cholestasis |
| VRK1 | Pontocerebellar hypoplasia |
| ZBTB42 | Lethal congenital contracture syndrome |
Panel de Braquidactilia y Sindactilia
| BMPR1B | Acromesomelic dysplasia, Demirhan, Brachydactyly C/Symphalangism-like pheno, Brachydactyly type A2 |
| ESCO2 | Roberts syndrome, SC phocomelia syndrome |
| GDF5 | Acromesomelic dysplasia, Hunter-Thompson, Brachydactyly type A2, Brachydactyly type C, Chondrodysplasia, Fibular hypoplasia and complex brachydactyly, Grebe dysplasia, Multiple synostoses syndrome, Symphalangism, proximal |
| GNAS | Albright hereditary osteodystrophy, McCune-Albright syndrome, Progressive osseous heteroplasia, Pseudohypoparathyroidism |
| HOXA13 | Guttmacher syndrome, Hand-foot-genital syndrome, Hand-foot-uterus syndrome |
| HOXD13 | Brachydactyly type D, Brachydactyly-syndactyly syndrome, Syndactyly, Synopolydactyly, Synopolydactyly with clefting |
| IHH | Acrocapitofemoral dysplasia, Brachydactyly, Syndactyly type Lueken |
| NOG | Brachydactyly type B2, Multiple synostosis syndrome, Stapes ankylosis with broad thumb and toes (Teunissen-Cremers syndrome), Symphalangism, proximal, Tarsal-carpal coalition syndrome |
| RECQL4 | Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndrome |
| ROR2 | Brachydactyly type B, Robinow syndrome recessive type |
| SOX9 | 46,XY sex reversal, Brachydactyly with anonychia (Cooks syndrome), Campomelic dysplasia |
| TP63 | ADULT syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, Limb-mammary syndrome, Orofacial cleft, Rapp-Hodgkin syndrome, Split-hand/foot malformation |
Panel de Condrodisplasia Punctata
| AGPS | Rhizomelic chondrodysplasia punctata type 3 |
| ARSE | Chondrodysplasia punctata X-linked recessive, brachytelephalangic type (CDPX1) |
| EBP | Chondrodysplasia punctata, Male EBP disorder with neurologic defects (MEND) |
| GNPAT | Rhizomelic chondrodysplasia punctata, rhizomelic |
| LBR | Greenberg/HEM skeletal dysplasia, Hydrops-ectopic calcification-moth-eaten skeletal dysplasia, Pelger-Huet anomaly, Reynolds syndrome |
| NSDHL | CK syndrome, Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome) |
| PEX7 | Refsum disease, Rhizomelic CDP type 1 |
Panel de Craneosinóstosis
| ALPL | Hypophosphatasia perinatal lethal, infantile, juvenile and adult forms, Odontohypophosphatasia |
| ALX3 | Frontonasal dysplasia type 1 |
| ALX4 | Frontonasal dysplasia type 2, Parietal foramina |
| BMP4 | Microphthalmia, syndromic, Orofacial cleft |
| EDN3 | Central hypoventilation syndrome, congenital, Hirschsprung disease, Waardenburg syndrome |
| EDNRB | ABCD syndrome, Hirschsprung disease, Waardenburg syndrome |
| EFNB1 | Craniofrontonasal dysplasia |
| ESCO2 | Roberts syndrome, SC phocomelia syndrome |
| FGFR1 | Hartsfield syndrome, Hypogonadotropic hypogonadism, Osteoglophonic Dwarfism - Craniostenosis, Pfeiffer syndrome, Trigonocephaly |
| FGFR2 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Apert syndrome, Beare-Stevenson cutis gyrata syndrome, Bent bone dysplasia, Craniofacial-skeletal-dermatological dysplasia, Crouzon syndrome, Jackson-Weiss syndrome, Lacrimoauriculodentodigital syndrome, Pfeiffer syndrome |
| FGFR3 | Achondroplasia, Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome, Crouzon syndrome with acanthosis nigricans, Hypochondroplasia, Lacrimoauriculodentodigital syndrome, Muenke syndrome, SADDAN, Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 2 |
| FLNB | Atelosteogenesis type 1, Atelosteogenesis type 3, Larsen syndrome (dominant), Spondylo-carpal-tarsal dyspasia |
| FREM1 | Bifid nose, Manitoba oculotrichoanal syndrome, Trigonocephaly |
| GDF5 | Acromesomelic dysplasia, Hunter-Thompson, Brachydactyly type A2, Brachydactyly type C, Chondrodysplasia, Fibular hypoplasia and complex brachydactyly, Grebe dysplasia, Multiple synostoses syndrome, Symphalangism, proximal |
| GLI3 | Acrocallosal syndrome, Grieg cephalopolysndactyly syndrome, Pallister-Hall syndrome, Postaxial polydactyly type A, Preaxial polydactyly type 3, Preaxial polydactyly type 4 |
| IFT122 | Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Sensenbrenner syndrome |
| IFT140 | Asphyxiating thoracic dysplasia (ATD; Jeune), Short -rib thoracic dysplasia with or without polydactyly |
| MASP1 | 3MC syndrome |
| MITF | Melanoma, cutaneous malignant, Renal cell carcinoma with or without malignant melanoma, Tietz albinism-deafness syndrome, Waardenburg syndrome |
| MSX2 | Craniosynostosis Boston type, Parietal foramina, Parietal foramina with cleidocranial dysplasia |
| NOG | Brachydactyly type B2, Multiple synostosis syndrome, Stapes ankylosis with broad thumb and toes (Teunissen-Cremers syndrome), Symphalangism, proximal, Tarsal-carpal coalition syndrome |
| PAX3 | Craniofacial-deafness-hand syndrome, Waardenburg syndrome |
| POR | Antley-Bixler syndrome, Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency |
| RECQL4 | Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndrome |
| RET | Central hypoventilation syndrome, congenital, Hirschsprung disease, Medullary thyroid carcinoma, Multiple endocrine neoplasia, Pheochromocytoma |
| SKI | Shprintzen-Goldberg syndrome |
| SOX10 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease |
| TCF12 | Craniosynostosis |
| TGFBR1 | Loeys-Dietz syndrome |
| TGFBR2 | Loeys-Dietz syndrome |
| TTR | Amyloidosis, hereditary, transthyretin-related, Dystransthyretinemic hyperthyroxinemia |
| TWIST1 | Craniosynostosis, Robinow-Sorauf syndrome, Saethre-Chotzen syndrome |
| WDR19 | Asphyxiating thoracic dysplasia (ATD; Jeune), Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Nephronophthisis, Retinitis pigmentosa, Senior-Loken syndrome, Short -rib thoracic dysplasia with or without polydactyly |
| WDR35 | Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Short rib-polydactyly syndrome type 5 |
Panel de Disostosis Facial y Trastornos Relacionados
| ALPL | Hypophosphatasia perinatal lethal, infantile, juvenile and adult forms, Odontohypophosphatasia |
| ALX3 | Frontonasal dysplasia type 1 |
| ALX4 | Frontonasal dysplasia type 2, Parietal foramina |
| CREBBP | Rubinstein-Taybi syndrome |
| DLL3 | Spondylocostal dysostosis |
| EFNB1 | Craniofrontonasal dysplasia |
| EFTUD2 | Esophageal atresia, syndromic, Mandibulofacial dysostosis with microcephaly |
| EP300 | Rubinstein-Taybi syndrome |
| EVC | Ellis-van Creveld syndrome, Weyers acrofacial dysostosis |
| EVC2 | Ellis-van Creveld syndrome, Weyers acrodental dysostosis |
| FGFR1 | Hartsfield syndrome, Hypogonadotropic hypogonadism, Osteoglophonic Dwarfism - Craniostenosis, Pfeiffer syndrome, Trigonocephaly |
| FGFR2 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Apert syndrome, Beare-Stevenson cutis gyrata syndrome, Bent bone dysplasia, Craniofacial-skeletal-dermatological dysplasia, Crouzon syndrome, Jackson-Weiss syndrome, Lacrimoauriculodentodigital syndrome, Pfeiffer syndrome |
| FGFR3 | Achondroplasia, Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome, Crouzon syndrome with acanthosis nigricans, Hypochondroplasia, Lacrimoauriculodentodigital syndrome, Muenke syndrome, SADDAN, Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 2 |
| GHR | Growth hormone insensitivity syndrome (Laron syndrome) |
| HDAC8 | Cornelia de Lange syndrome |
| HSPG2 | Dyssegmental dysplasia Rolland-Desbuquis type, Dyssegmental dysplasia Silverman-Handmaker type, Schwartz-Jampel syndrome |
| LIFR | Schwartz-Jampel type 2 syndrome, Stuve-Wiedemann dysplasia |
| NIPBL | Cornelia de Lange syndrome |
| POLR1C | Treacher Collins syndrome |
| RMRP | Anauxetic dysplasia, Cartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis |
| SF3B4 | Acrofacial dysostosis 1, Nager |
| SMC1A | Cornelia de Lange syndrome |
| SMC3 | Cornelia de Lange syndrome |
| SOX9 | 46,XY sex reversal, Brachydactyly with anonychia (Cooks syndrome), Campomelic dysplasia |
| SRCAP | Floating-Harbor syndrome |
| TCF12 | Craniosynostosis |
| TCOF1 | Treacher Collins syndrome |
| TWIST1 | Craniosynostosis, Robinow-Sorauf syndrome, Saethre-Chotzen syndrome |
| UBE2A | Mental retardation, syndromic, Nascimento |
Panel de Displasia de Costilla Corta / Displasia Torácica Asfixiante
| CSPP1 | Jeune Asphyxiating Thoracic Dystrophy, Joubert syndrome |
| DYNC2H1 | Asphyxiating thoracic dysplasia (ATD; Jeune), SRPS type 2 (Majewski), Short -rib thoracic dysplasia with or without polydactyly type 1, Short -rib thoracic dysplasia with or without polydactyly type 3 |
| EVC | Ellis-van Creveld syndrome, Weyers acrofacial dysostosis |
| EVC2 | Ellis-van Creveld syndrome, Weyers acrodental dysostosis |
| GLI2 | Culler-Jones syndrome |
| IFT80 | Asphyxiating thoracic dysplasia (ATD; Jeune), Short -rib thoracic dysplasia with or without polydactyly |
| IFT122 | Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Sensenbrenner syndrome |
| IFT140 | Asphyxiating thoracic dysplasia (ATD; Jeune), Short -rib thoracic dysplasia with or without polydactyly |
| IFT172 | Asphyxiating thoracic dysplasia (ATD; Jeune), Retinitis pigmentosa, Short -rib thoracic dysplasia with or without polydactyly |
| NEK1 | SRPS type 2 (Majewski), Short -rib thoracic dysplasia with or without polydactyly |
| TCTN3 | Joubert syndrome, Orofaciodigital syndrome (Mohr-Majewski syndrome) |
| TTC21B | Asphyxiating thoracic dysplasia (ATD; Jeune), Nephronophthisis, Short-rib thoracic dysplasia |
| WDR19 | Asphyxiating thoracic dysplasia (ATD; Jeune), Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Nephronophthisis, Retinitis pigmentosa, Senior-Loken syndrome, Short -rib thoracic dysplasia with or without polydactyly |
| WDR34 | Asphyxiating thoracic dysplasia (ATD; Jeune), Short -rib thoracic dysplasia with or without polydactyly |
| WDR35 | Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Short rib-polydactyly syndrome type 5 |
Panel de Displasia Esquelética con Mineralización Defectuosa
| ALPL | Hypophosphatasia perinatal lethal, infantile, juvenile and adult forms, Odontohypophosphatasia |
| ANKH | Calcium pyrophosphate deposition disease (familial chondrocalcinosis type 2), Craniometaphyseal dysplasia autosomal dominant type |
| B4GALT7 | Ehlers-Danlos syndrome, progeroid form |
| CASR | Familial Hypocalciuric hypercalcemia with transient Neonatal hyperparathyroidism, Hypocalcemia, Neonatal hyperparathyroidism |
| CLCN5 | Dent disease, Hypophosphatemic rickets,, Nephrolithiasis, I, Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis |
| COL1A1 | Caffey disease, Ehlers-Danlos syndrome, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| COL1A2 | Ehlers-Danlos syndrome, cardiac valvular form, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| COL3A1 | Ehlers-Danlos syndrome |
| COL5A1 | Ehlers-Danlos syndrome |
| COL5A2 | Ehlers-Danlos syndrome |
| CRTAP | Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| CYP27B1 | Vitamin D-dependent rickets |
| ENPP1 | Arterial calcification, Hypophosphatemic rickets |
| FBN1 | Acromicric dysplasia, Geleophysic dysplasia, MASS syndrome, Marfan syndrome, Shprintzen-Goldberg syndrome, Weill-Marchesani syndrome |
| FGF23 | Hypophosphatemic rickets, Tumoral calcinosis, hyperphosphatemic |
| FKBP10 | Bruck syndrome type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| P3H1 | Osteogenesis imperfecta |
| PHEX | Hypophosphatemic rickets |
| PLOD2 | Bruck syndrome, Osteogenesis imperfecta type 3 |
| PPIB | Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| SERPINF1 | Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| SLC34A3 | Hypophosphatemic rickets with hypercalciuria |
| SLC39A13 | Spondylodysplastic Ehlers-Danlos syndrome |
| SOX9 | 46,XY sex reversal, Brachydactyly with anonychia (Cooks syndrome), Campomelic dysplasia |
| TNFRSF11A | Familial expansile osteolysis, Osteopetrosis, severe neonatal or infantile forms (OPTB1), Paget disease of bone |
| TNFRSF11B | Paget disease of bone, juvenile |
| VDR | Vitamin D-dependent rickets |
Panel de Displasia Metafisaria
| ANKH | Calcium pyrophosphate deposition disease (familial chondrocalcinosis type 2), Craniometaphyseal dysplasia autosomal dominant type |
| CDKN1C | Beckwith-Wiedemann syndrome, IMAGE syndrome |
| COL10A1 | Metaphyseal chondrodysplasia, Schmid |
| FGFR3 | Achondroplasia, Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome, Crouzon syndrome with acanthosis nigricans, Hypochondroplasia, Lacrimoauriculodentodigital syndrome, Muenke syndrome, SADDAN, Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 2 |
| FLNA | Frontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects |
| MMP9 | Metaphyseal anadysplasia |
| PTH1R | Blomstrand dysplasia, Eiken dysplasia, Failure of tooth eruption, Metaphyseal chondrodysplasia Jansen type |
| RMRP | Anauxetic dysplasia, Cartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis |
| RUNX2 | Cleidocranial dysplasia, Metaphyseal dysplasia with maxillary hypoplasia |
| SBDS | Aplastic anemia, Severe spondylometaphyseal dysplasia, Shwachman-Diamond syndrome |
Panel de Displasia Septo-Óptica
| HESX1 | Pituitary hormone deficiency, combined, Septooptic dysplasia |
| OTX2 | Microphthalmia, syndromic, Pituitary hormone deficiency, combined, Retinal dystrophy, early-onset, and pituitary dysfunction |
| PAX6 | Aniridia, Aniridia, cerebellar ataxia, and mental retardation (Gillespie syndrome), Cataract with late-onset corneal dystrophy, Coloboma, ocular, Foveal hypoplasia, Keratitis, Morning glory disc anomaly, Optic nerve hypoplasia, Peters anomaly |
| SOX2 | Microphthalmia, syndromic |
Panel de Enfermedad de Hirschsprung
| EDN3 | Central hypoventilation syndrome, congenital, Hirschsprung disease, Waardenburg syndrome |
| EDNRB | ABCD syndrome, Hirschsprung disease, Waardenburg syndrome |
| KIF1BP | Goldberg-Shprintzen megacolon syndrome |
| MITF | Melanoma, cutaneous malignant, Renal cell carcinoma with or without malignant melanoma, Tietz albinism-deafness syndrome, Waardenburg syndrome |
| NRG1 | Nonsyndromic Hirschsprung disease |
| PAX3 | Craniofacial-deafness-hand syndrome, Waardenburg syndrome |
| RET | Central hypoventilation syndrome, congenital, Hirschsprung disease, Medullary thyroid carcinoma, Multiple endocrine neoplasia, Pheochromocytoma |
| SOX10 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease |
| ZEB2 | Mowat-Wilson syndrome |
Panel de Holoprosencefalia
| CDON | Holoprosencephaly |
| FGF8 | Hypogonadotropic hypogonadism |
| FGFR1 | Hartsfield syndrome, Hypogonadotropic hypogonadism, Osteoglophonic Dwarfism - Craniostenosis, Pfeiffer syndrome, Trigonocephaly |
| FOXH1 | Congenital heart malformations, Holoprosencephaly |
| GLI2 | Culler-Jones syndrome |
| GLI3 | Acrocallosal syndrome, Grieg cephalopolysndactyly syndrome, Pallister-Hall syndrome, Postaxial polydactyly type A, Preaxial polydactyly type 3, Preaxial polydactyly type 4 |
| NODAL | Heterotaxy, visceral |
| PTCH1 | Basal cell nevus syndrome |
| SHH | Holoprosencephaly, Microphthalmia with coloboma |
| SIX3 | Holoprosencephaly |
| TGIF1 | Holoprosencephaly |
| ZIC2 | Holoprosencephaly |
Panel de Lisencefalia
| ACTB | Baraitser-Winter syndrome |
| ACTG1 | Baraitser-Winter syndrome, Deafness |
| ARX | Corpus callosum, agenesis of, with abnormal genitalia, Epileptic encephalopathy, Hydranencephaly with abnormal genitalia, Lissencephaly, Mental retardation, Partington syndrome, Proud syndrome |
| DCX | Lissencephaly, Subcortical laminal heterotopia |
| FKTN | Dilated cardiomyopathy (DCM), Muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (limb-girdle) |
| LARGE | Muscular dystrophy-dystroglycanopathy |
| PAFAH1B1 | Lissencephaly, Subcortical laminar heterotopia |
| POMGNT1 | Muscular dystrophy-dystroglycanopathy |
| POMT1 | Muscular dystrophy-dystroglycanopathy |
| POMT2 | Muscular dystrophy-dystroglycanopathy |
| RELN | Epilepsy, familial temporal lobe, Lissencephaly |
| TUBA1A | Lissencephaly |
| TUBB2B | Polymicrogyria, asymmetric |
| VLDLR | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome |
| YWHAE | 17p13.3 microduplication syndrome, Distal 17p13.3 microdeletion syndrome, Endometrial stromal sarcoma, Miller-Dieker syndrome |
Panel de Macrocefalia / Síndrome de Sobrecrecimiento
| ABCC6 | Pseudoxanthoma elasticum |
| AKT1 | Cowden syndrome, Proteus syndrome |
| AKT3 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome |
| ASPA | Aspartoacylase deficiency (Canavan disease) |
| BRWD3 | Mental retardation |
| CCND2 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome |
| CDKN1C | Beckwith-Wiedemann syndrome, IMAGE syndrome |
| CHD8 | Autism |
| CUL4B | Mental retardation, syndromic, Cabezas |
| DHCR24 | Desmosterolosis |
| DIS3L2 | Perlman syndrome |
| DNMT3A | Tatton-Brown-Rahman syndrome |
| EIF2B5 | Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy |
| EZH2 | Weaver syndrome |
| GFAP | Alexander disease |
| GLI3 | Acrocallosal syndrome, Grieg cephalopolysndactyly syndrome, Pallister-Hall syndrome, Postaxial polydactyly type A, Preaxial polydactyly type 3, Preaxial polydactyly type 4 |
| GPC3 | Simpson-Golabi-Behmel syndrome |
| GPSM2 | Chudley-McCullough syndrome, Deafness |
| GRIA3 | Mental retardation |
| HEPACAM | Megalencephalic leukoencephalopathy with subcortical cysts, remitting |
| HUWE1 | Mental retardation, syndromic, Turner |
| KIAA0196 | Ritscher-Schinzel syndrome (3C syndrome), Spastic paraplegia |
| KIF7 | Acrocallosal syndrome, Al-Gazali-Bakalinova syndrome, Hydrolethalus syndrome, Joubert syndrome |
| L1CAM | CRASH syndrome, Corpus callosum, partial agenesis, Hydrocephalus due to congenital stenosis of aqueduct of Sylvius, Mental retardation, aphasia, shuffling gait, and adducted thumbs (MASA) syndrome, Spastic |
| MED12 | FG syndrome, Lujan-Fryns syndrome, Mental retardation, with Marfanoid habitus, Ohdo syndrome, Opitz-Kaveggia syndrome |
| MLC1 | Megalencephalic leukoencephalopathy with subcortical cysts |
| NFIX | Marshall-Smithsyndrome |
| NSD1 | Beckwith-Wiedemann syndrome, Sotos syndrome, Weaver syndrome |
| OFD1 | Joubert syndrome, Orofaciodigital syndrome, Retinitis pigmentosa, Simpson-Golabi-Behmel syndrome |
| PIGA | Multiple congenital anomalies-hypotonia-seizures syndrome |
| PIK3CA | CLOVES, Cowden syndrome |
| PTCH1 | Basal cell nevus syndrome |
| PTEN | Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Lhermitte-Duclos syndrome |
| RAB39B | Mental retardation, Waisman parkinsonism-mental retardation syndrome |
| SYN1 | Epilepsy, with variable learning disabilities and behavior disorders |
| TSC1 | Lymphangioleiomyomatosis, Tuberous sclerosis |
| TSC2 | Lymphangioleiomyomatosis, Tuberous sclerosis |
| UPF3B | Mental retardation, syndromic |
Panel de Malformación Cavernosa Cerebral
| CCM2 | Cerebral cavernous malformations |
| KRIT1 | Cerebral cavernous malformations |
| PDCD10 | Cerebral cavernous malformations |
| RASA1 | Capillary malformation-arteriovenous malformation, Parkes Weber syndrome, Spinal arteriovenous anomalies |
Panel de Microcefalia e Hipoplasia Pontocerebelosa
| AKT3 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome |
| ASPM | Microcephaly |
| ATR | Cutaneous telangiectasia and cancer syndrome, Seckel syndrome |
| CASK | FG syndrome, Mental retardation, Mental retardation and microcephaly with pontine and cerebellar hypoplasia |
| CDK5RAP2 | Microcephaly |
| CENPF | Ciliary dyskinesia -Lethal Ciliopathy |
| CENPJ | Microcephaly, Seckel syndrome |
| CEP63 | Seckel syndrome |
| CEP152 | Microcephaly, Seckel syndrome |
| CEP164 | Nephronophthisis |
| DYNC1H1 | Charcot-Marie-Tooth disease, Mental retardation, Spinal muscular atrophy |
| DYRK1A | Mental retardation |
| EFTUD2 | Esophageal atresia, syndromic, Mandibulofacial dysostosis with microcephaly |
| EXOSC3 | Pontocerebellar hypoplasia |
| KIF11 | Microcephaly |
| LIG4 | LIG4 syndrome, Severe combined immunodeficiency with sensitivity to ionizing radiation |
| MBD5 | Mental retardation |
| MCPH1 | Microcephaly |
| MRE11A | Ataxia-telangiectasia-like disorder-1 |
| NDE1 | Lissencephaly, Microhydranencephaly |
| NHEJ1 | Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation |
| OPHN1 | Mental retardation, with cerebellar hypoplasia and distinctive facial appearance |
| PAFAH1B1 | Lissencephaly, Subcortical laminar heterotopia |
| PCNT | Microcephalic osteodysplastic primordial dwarfism |
| PNKP | Ataxia-oculomotor, Epileptic encephalopathy, early infantile |
| POMT1 | Muscular dystrophy-dystroglycanopathy |
| PQBP1 | Renpenning syndrome |
| RARS2 | Pontocerebellar hypoplasia |
| STIL | Microcephaly |
| TSEN2 | Pontocerebellar hypoplasia |
| TSEN54 | Pontocerebellar hypoplasia |
| TUBB2B | Polymicrogyria, asymmetric |
| VRK1 | Pontocerebellar hypoplasia |
| WDR62 | Microcephaly |
Panel de Micromelic Dysplasia
| ADAMTS10 | Weill-Marchesani syndrome |
| ADAMTSL2 | Geleophysic dysplasia |
| BMPR1B | Acromesomelic dysplasia, Demirhan, Brachydactyly C/Symphalangism-like pheno, Brachydactyly type A2 |
| DVL1 | Robinow syndrome |
| EXT1 | Multiple cartilagenious exostoses 1 |
| FBN1 | Acromicric dysplasia, Geleophysic dysplasia, MASS syndrome, Marfan syndrome, Shprintzen-Goldberg syndrome, Weill-Marchesani syndrome |
| FGFR3 | Achondroplasia, Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome, Crouzon syndrome with acanthosis nigricans, Hypochondroplasia, Lacrimoauriculodentodigital syndrome, Muenke syndrome, SADDAN, Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 2 |
| GDF5 | Acromesomelic dysplasia, Hunter-Thompson, Brachydactyly type A2, Brachydactyly type C, Chondrodysplasia, Fibular hypoplasia and complex brachydactyly, Grebe dysplasia, Multiple synostoses syndrome, Symphalangism, proximal |
| GNAS | Albright hereditary osteodystrophy, McCune-Albright syndrome, Progressive osseous heteroplasia, Pseudohypoparathyroidism |
| IFT122 | Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Sensenbrenner syndrome |
| IFT140 | Asphyxiating thoracic dysplasia (ATD; Jeune), Short -rib thoracic dysplasia with or without polydactyly |
| IHH | Acrocapitofemoral dysplasia, Brachydactyly, Syndactyly type Lueken |
| LIFR | Schwartz-Jampel type 2 syndrome, Stuve-Wiedemann dysplasia |
| LTBP2 | Glaucoma, primary congenital, Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Weill-Marchesani syndrome |
| NPR2 | Acromesomelic dysplasia type Maroteaux, Epiphyseal chondrodysplasia, Miura, Short stature with nonspecific skeletal abnormalities |
| PRKAR1A | Acrodysostosis, Carney complex, Myxoma, intracardiac, Pigmented nodular adrenocortical disease |
| ROR2 | Brachydactyly type B, Robinow syndrome recessive type |
| SHOX | Langer mesomelic dysplasia, Leri-Weill dyschondrosteosis, Short stature |
| SMAD4 | Hereditary hemorrhagic telangiectasia, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre dysplasia, Polyposis, juvenile intestinal |
| SOX9 | 46,XY sex reversal, Brachydactyly with anonychia (Cooks syndrome), Campomelic dysplasia |
| TRPS1 | Trichorhinophalangeal syndrome type 1, Trichorhinophalangeal syndrome type 3 |
| WDR19 | Asphyxiating thoracic dysplasia (ATD; Jeune), Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Nephronophthisis, Retinitis pigmentosa, Senior-Loken syndrome, Short -rib thoracic dysplasia with or without polydactyly |
| WDR35 | Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Short rib-polydactyly syndrome type 5 |
| WNT5A | Robinow syndrome |
Panel de Neurofibromatosis
| KIT | Gastrointestinal stromal tumor |
| NF1 | Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome |
| NF2 | Neurofibromatosis, Schwannomatosis |
| PTPN11 | LEOPARD syndrome, Metachondromatosis, Noonan syndrome |
| RAF1 | Dilated cardiomyopathy (DCM), LEOPARD syndrome, Noonan syndrome |
| SMARCB1 | Rhabdoid tumor predisposition syndrome, Schwannomatosis |
| SPRED1 | Legius syndrome |
Panel de Osteogénesis Imperfecta
| ACTA1 | Myopathy |
| ALPL | Hypophosphatasia perinatal lethal, infantile, juvenile and adult forms, Odontohypophosphatasia |
| ANO5 | Gnathodiaphyseal dysplasia, LGMD2L and distal MMD3 muscular dystrophies |
| ATP6V0A2 | Cutis laxa, Wrinkly skin syndrome |
| B3GALNT2 | Muscular dystrophy-dystroglycanopathy |
| B4GALT7 | Ehlers-Danlos syndrome, progeroid form |
| BMP1 | Osteogenesis imperfecta |
| CAPN3 | Eosinophilic myositis, Muscular dystrophy, limb-girdle |
| CFL2 | Nemaline myopathy |
| CHKB | Muscular dystrophy, congenital, megaconial |
| CLCN5 | Dent disease, Hypophosphatemic rickets,, Nephrolithiasis, I, Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis |
| COL1A1 | Caffey disease, Ehlers-Danlos syndrome, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| COL1A2 | Ehlers-Danlos syndrome, cardiac valvular form, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| COL6A1 | Bethlem myopathy, Ullrich congenital muscular dystrophy |
| COL6A2 | Bethlem myopathy, Epilepsy, progressive myoclonic, Myosclerosis, congenital, Ullrich congenital muscular dystrophy |
| COL6A3 | Bethlem myopathy, Dystonia, Ullrich congenital muscular dystrophy |
| CRTAP | Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| DNM2 | Charcot-Marie-Tooth disease, Lethal akinesia and musculoskeletal abnormalities, with brain and retinal hemorrhages, Myopathy |
| EMD | Emery-Dreifuss muscular dystrophy |
| ENPP1 | Arterial calcification, Hypophosphatemic rickets |
| FGF23 | Hypophosphatemic rickets, Tumoral calcinosis, hyperphosphatemic |
| FHL1 | Emery-Dreifuss muscular dystrophy, Myopathy with postural muscle atrophy, Reducing bod myopathy |
| FKBP10 | Bruck syndrome type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| FKRP | Muscular dystrophy-dystroglycanopathy |
| FKTN | Dilated cardiomyopathy (DCM), Muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (limb-girdle) |
| FLNA | Frontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects |
| FLNB | Atelosteogenesis type 1, Atelosteogenesis type 3, Larsen syndrome (dominant), Spondylo-carpal-tarsal dyspasia |
| GAA | Glycogen storage disease |
| GMPPB | Limb-girdle muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| ISPD | Muscular dystrophy-dystroglycanopathy |
| KBTBD13 | Nemaline myopathy |
| KLHL40 | Nemaline myopathy |
| LAMA2 | Muscular dystrophy, congenital merosin-deficient, Schizophrenia |
| LAMP2 | Danon disease |
| LARGE | Muscular dystrophy-dystroglycanopathy |
| LMNA | Dilated cardiomyopathy (DCM), Emery-Dreiffus muscular dystrophy, Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Lipodystrophy (Dunnigan), Malouf syndrome, Mandibuloacral dysplasia type A, Muscular dystrophy, congenital, LMNA-related, Progeria Hutchinson-Gilford type |
| LRP5 | Exudative vitreoretinopathy, Hyperostosis, endosteal, LRP5 primary osteoporosis, Osteopetrosis late-onset form type 1, Osteoporosis-pseudoglioma syndrome, Osteosclerosis, Van Buchem disease |
| MYH7 | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Myopathy, distal, Myopathy, myosin storage |
| NEB | Nemaline myopathy |
| OCRL | Dent disease, Lowe syndrome |
| P3H1 | Osteogenesis imperfecta |
| PHEX | Hypophosphatemic rickets |
| PIEZO2 | Distal arthrogryposis, Marden-Walker syndrome |
| PLOD2 | Bruck syndrome, Osteogenesis imperfecta type 3 |
| POMGNT1 | Muscular dystrophy-dystroglycanopathy |
| POMT1 | Muscular dystrophy-dystroglycanopathy |
| POMT2 | Muscular dystrophy-dystroglycanopathy |
| PPIB | Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| PYCR1 | Cutis laxa AR type 2B |
| RAPSN | Myasthenic syndrome, congenital |
| RYR1 | Central core disease, Centronuclear myopathy, Malignant hyperthermia, Minicore myopathy, Minicore myopathy with external ophthalmoplegia, Multicore myopathy |
| SELENON | Muscular dystrophy, rigid spine, Myopathy, congenital, with fiber- disproportion |
| SERPINF1 | Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| SERPINH1 | Osteogenesis imperfecta type 3 |
| SIL1 | Marinesco-Sjogren syndrome |
| SLC34A3 | Hypophosphatemic rickets with hypercalciuria |
| TMEM5 | Muscular dystrophy-dystroglycanopathy |
| TMEM43 | Arrhythmogenic right ventricular dysplasia, Emery-Dreifuss muscular dystrophy |
| TNNT1 | Nemaline myopathy |
| TPM2 | Arthrogryposis, distal, CAP myopathy, Nemaline myopathy |
| TPM3 | CAP myopathy, Myopathy, congenital, with fiber- disproportion, Nemaline myopathy |
Panel de Osteopetrosis y Displasia Fibrosa
| AMER1 | Osteopathia striata with cranial sclerosis |
| ANKH | Calcium pyrophosphate deposition disease (familial chondrocalcinosis type 2), Craniometaphyseal dysplasia autosomal dominant type |
| CA2 | Osteopetrosis, with renal tubular acidosis |
| CLCN7 | Osteopetrosis |
| COL1A1 | Caffey disease, Ehlers-Danlos syndrome, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| CTSK | Pycnodysostosis |
| DLX3 | Amelogenesis imperfecta, Trichodontoosseous syndrome |
| FAM20C | Hypophosphatemia, hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis (Raine syndrome) |
| GJA1 | Oculodentodigital dysplasia mild type, Oculodentodigital dysplasia severe type, Syndactyly type 3 |
| IKBKG | Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, Immunodeficiency, Incontinentia pigmenti, Invasive pneumococcal disease, recurrent, isolated, Osteopetrosis with ectodermal dysplasia and immune defect (OLEDAID) |
| LEMD3 | Buschke-Ollendorff syndrome, Osteopoikilosis |
| LRP4 | Cenani-Lenz syndactyly syndrome, Myasthenic syndrome, congenital, Sclerosteosis |
| LRP5 | Exudative vitreoretinopathy, Hyperostosis, endosteal, LRP5 primary osteoporosis, Osteopetrosis late-onset form type 1, Osteoporosis-pseudoglioma syndrome, Osteosclerosis, Van Buchem disease |
| PTH1R | Blomstrand dysplasia, Eiken dysplasia, Failure of tooth eruption, Metaphyseal chondrodysplasia Jansen type |
| SLC29A3 | Dysosteosclerosis, Histiocytosis-lymphadenopathy plus syndrome |
| SLCO2A1 | Hypertrophic osteoarthropathy |
| TCIRG1 | Osteopetrosis, severe neonatal or infantile forms (OPTB1) |
| TGFB1 | Diaphyseal dysplasia Camurati-Engelmann |
| TNFRSF11A | Familial expansile osteolysis, Osteopetrosis, severe neonatal or infantile forms (OPTB1), Paget disease of bone |
| TNFRSF11B | Paget disease of bone, juvenile |
| TYROBP | Nasu-Hakola disease, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy |
Panel de Polimicrogiria
| ADGRG1 | Polymicrogyria, bilateral frontoparietal, Polymicrogyris, bilateral perisylvian |
| AKT3 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome |
| CHD7 | CHARGE syndrome, Isolated gonadotropin-releasing hormone deficiency |
| FH | Hereditary leiomyomatosis and renal cell cancer |
| GPSM2 | Chudley-McCullough syndrome, Deafness |
| KIF1BP | Goldberg-Shprintzen megacolon syndrome |
| NDE1 | Lissencephaly, Microhydranencephaly |
| NSDHL | CK syndrome, Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome) |
| SRPX2 | Rolandic epilepsy, mental retardation, and speech dyspraxia |
| TUBA1A | Lissencephaly |
| TUBA8 | Polymicrogyria with optic nerve hypoplasia |
| TUBB2B | Polymicrogyria, asymmetric |
| TUBB3 | Cortical dysplasia, complex, with other brain malformations, Fibrosis of extraocular muscles, congenital |
| WDR62 | Microcephaly |
Panel de Síndrome 3M / Enanismo Primordial
| ATR | Cutaneous telangiectasia and cancer syndrome, Seckel syndrome |
| CDC6 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
| CDT1 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
| CENPJ | Microcephaly, Seckel syndrome |
| CEP63 | Seckel syndrome |
| CEP152 | Microcephaly, Seckel syndrome |
| CUL7 | 3-M syndrome, Yakut short stature syndrome |
| NOTCH2 | Alagille syndrome, Hajdu-Cheney syndrome |
| OBSL1 | 3-M syndrome |
| ORC1 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
| ORC4 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
| ORC6 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
| PCNT | Microcephalic osteodysplastic primordial dwarfism |
| RBBP8 | Jawad syndrome, Seckel syndrome |
| RNU4ATAC | Microcephalic osteodysplastic primordial dwarfism type 1, Microcephalic osteodysplastic primordial dwarfism type 3, Roifman syndrome |
Panel de Síndrome de Adams-Oliver
| ARHGAP31 | Adams-Oliver syndrome |
| DLL4 | Adams-Oliver syndrome |
| DOCK6 | Adams-Oliver syndrome |
| EOGT | Adams-Oliver syndrome |
| NOTCH1 | Aortic valve disease |
| RBPJ | Adams-Oliver syndrome |
Panel de Síndrome de Cockayne
| ERCC6 | De Sanctis-Cacchione syndrome, Xeroderma Pigmentosum-Cockayne Syndrome |
| ERCC8 | Cockayne syndrome, UV-sensitive syndrome |
Panel de Síndrome de Kabuki
| CHD7 | CHARGE syndrome, Isolated gonadotropin-releasing hormone deficiency |
| EYA1 | Branchiootic syndrome, Branchiootorenal syndrome, Otofaciocervical syndrome |
| FLNB | Atelosteogenesis type 1, Atelosteogenesis type 3, Larsen syndrome (dominant), Spondylo-carpal-tarsal dyspasia |
| IRF6 | Orofacial cleft, Popliteal pterygium syndrome, van der Woude syndrome |
| KDM6A | Kabuki syndrome |
| KMT2D | Kabuki syndrome |
| SIX5 | Branchiootorenal syndrome |
Panel de Síndrome de Meier-Gorlin
| CDC6 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
| CDT1 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
| ORC1 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
| ORC4 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
| ORC6 | Meier-Gorlin syndrome (Ear-patella-short stature syndrome) |
Panel de Síndrome de Seckel
| ATR | Cutaneous telangiectasia and cancer syndrome, Seckel syndrome |
| CENPJ | Microcephaly, Seckel syndrome |
| CEP63 | Seckel syndrome |
| CEP152 | Microcephaly, Seckel syndrome |
| PCNT | Microcephalic osteodysplastic primordial dwarfism |
| RBBP8 | Jawad syndrome, Seckel syndrome |
Panel de Trastornos de Migración Neuronal
| ACTB | Baraitser-Winter syndrome |
| ACTG1 | Baraitser-Winter syndrome, Deafness |
| ADGRG1 | Polymicrogyria, bilateral frontoparietal, Polymicrogyris, bilateral perisylvian |
| AKT3 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome |
| ARFGEF2 | Heterotopia, periventricular |
| ARX | Corpus callosum, agenesis of, with abnormal genitalia, Epileptic encephalopathy, Hydranencephaly with abnormal genitalia, Lissencephaly, Mental retardation, Partington syndrome, Proud syndrome |
| B3GALNT2 | Muscular dystrophy-dystroglycanopathy |
| CHD7 | CHARGE syndrome, Isolated gonadotropin-releasing hormone deficiency |
| COL4A1 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Anterior segment dysgenesis with cerebral involvement, Brain small vessel disease, Porencephaly, Retinal artery tortuosity, Schizencephaly |
| COL4A2 | Hemorrhage, intracerebral |
| COL4A4 | Alport syndrome |
| DCX | Lissencephaly, Subcortical laminal heterotopia |
| DYNC1H1 | Charcot-Marie-Tooth disease, Mental retardation, Spinal muscular atrophy |
| EMX2 | Schizencephaly |
| FH | Hereditary leiomyomatosis and renal cell cancer |
| FKTN | Dilated cardiomyopathy (DCM), Muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (limb-girdle) |
| FLNA | Frontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects |
| GMPPB | Limb-girdle muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| GPSM2 | Chudley-McCullough syndrome, Deafness |
| ISPD | Muscular dystrophy-dystroglycanopathy |
| KIF1BP | Goldberg-Shprintzen megacolon syndrome |
| KIF7 | Acrocallosal syndrome, Al-Gazali-Bakalinova syndrome, Hydrolethalus syndrome, Joubert syndrome |
| L1CAM | CRASH syndrome, Corpus callosum, partial agenesis, Hydrocephalus due to congenital stenosis of aqueduct of Sylvius, Mental retardation, aphasia, shuffling gait, and adducted thumbs (MASA) syndrome, Spastic |
| LAMA2 | Muscular dystrophy, congenital merosin-deficient, Schizophrenia |
| LARGE | Muscular dystrophy-dystroglycanopathy |
| MED12 | FG syndrome, Lujan-Fryns syndrome, Mental retardation, with Marfanoid habitus, Ohdo syndrome, Opitz-Kaveggia syndrome |
| MEF2C | Mental retardation |
| NDE1 | Lissencephaly, Microhydranencephaly |
| NSDHL | CK syndrome, Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome) |
| PAFAH1B1 | Lissencephaly, Subcortical laminar heterotopia |
| PIK3CA | CLOVES, Cowden syndrome |
| POMGNT1 | Muscular dystrophy-dystroglycanopathy |
| POMT1 | Muscular dystrophy-dystroglycanopathy |
| POMT2 | Muscular dystrophy-dystroglycanopathy |
| RAB3GAP1 | Warburg micro syndrome |
| RAB3GAP2 | Martsolf syndrome, Warburg micro syndrome |
| RELN | Epilepsy, familial temporal lobe, Lissencephaly |
| SLC12A6 | Agenesis of the corpus callosum with peripheral neuropathy (Andermann syndrome) |
| SRPX2 | Rolandic epilepsy, mental retardation, and speech dyspraxia |
| TMEM5 | Muscular dystrophy-dystroglycanopathy |
| TUBA1A | Lissencephaly |
| TUBA8 | Polymicrogyria with optic nerve hypoplasia |
| TUBB2B | Polymicrogyria, asymmetric |
| TUBB3 | Cortical dysplasia, complex, with other brain malformations, Fibrosis of extraocular muscles, congenital |
| VLDLR | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome |
| WDR62 | Microcephaly |
| YWHAE | 17p13.3 microduplication syndrome, Distal 17p13.3 microdeletion syndrome, Endometrial stromal sarcoma, Miller-Dieker syndrome |
Secuencia Deformante de Aquinesia Fetal / Síndrome de Pterigium Múltiple Letal / Panel de Enfermedades Relacionadas
| CHRNA1 | Myasthenic syndrome, congenital |
| CHRND | Myasthenic syndrome |
| CHRNE | Myasthenic syndrome |
| CHRNG | Escobar syndrome, Multiple pterygium syndrome |
| COLQ | Myasthenic syndrome, congenital |
| DOK7 | Myasthenic syndrome, congenital |
| GLE1 | Arthrogryposis, lethal, with anterior horn cell disease, Lethal congenital contracture syndrome |
| KLHL40 | Nemaline myopathy |
| MUSK | Myasthenic syndrome, congenital |
| RAPSN | Myasthenic syndrome, congenital |
EXOMA
