Malformaciones

PANELES:

Displasia Espondilometafisaria / Displasia Espondiloepimetafisaria
ACP5Spondyloenchondrodysplasia with immune dysregulation
B3GALT6Ehlers-Danlos syndrome, Spondyloepimetaphyseal dysplasia with joint laxity
CANT1Desbuquois dysplasia
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome)
COL2A1Achondrogenesis 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
COL11A1Fibrochondrogenesis, Marshall syndrome, Stickler syndrome type 2
COL11A2Deafness, Fibrochondrogenesis, Otospondylomegaepiphyseal dysplasia, Stickler syndrome type 3 (non-ocular), Weissenbacher-Zweymuller syndrome
DYMDyggve-Melchior-Clausen dysplasia, Smith-McCort dysplasia
EIF2AK3SED, Wolcott-Rallison type
HSPG2Dyssegmental dysplasia Rolland-Desbuquis type, Dyssegmental dysplasia Silverman-Handmaker type, Schwartz-Jampel syndrome
MATN3Multiple epiphyseal dysplasia type 5 (EDM5), Spondyloepimetaphyseal dysplasia Matrilin type
PAPSS2Brachyolmia 4 with mild epiphyseal and metaphyseal changes, SEMD PAPPS2 type
RMRPAnauxetic dysplasia, Cartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis
SLC39A13Spondylodysplastic Ehlers-Danlos syndrome
SMARCAL1Schimke immunoosseous dysplasia
TRAPPC2Spondyloepiphyseal dysplasia tarda
TRPV4Brachyolmia (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
WISP3Arthropathy, progressive pseudorheumatoid, of childhood, Spondyloepiphyseal dysplasia tarda with progressive arthropathy
Panel Básico de Displasias Esqueléticas
ACP5Spondyloenchondrodysplasia with immune dysregulation
ADAMTS10Weill-Marchesani syndrome
ADAMTSL2Geleophysic dysplasia
AGPSRhizomelic chondrodysplasia punctata type 3
ALPLHypophosphatasia perinatal lethal, infantile, juvenile and adult forms, Odontohypophosphatasia
ANKHCalcium pyrophosphate deposition disease (familial chondrocalcinosis type 2), Craniometaphyseal dysplasia autosomal dominant type
ARSEChondrodysplasia punctata X-linked recessive, brachytelephalangic type (CDPX1)
B3GALT6Ehlers-Danlos syndrome, Spondyloepimetaphyseal dysplasia with joint laxity
BMP1Osteogenesis imperfecta
BMPR1BAcromesomelic dysplasia, Demirhan, Brachydactyly C/Symphalangism-like pheno, Brachydactyly type A2
CA2Osteopetrosis, with renal tubular acidosis
CANT1Desbuquois dysplasia
CDC6Meier-Gorlin syndrome (Ear-patella-short stature syndrome)
CDKN1CBeckwith-Wiedemann syndrome, IMAGE syndrome
CDT1Meier-Gorlin syndrome (Ear-patella-short stature syndrome)
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome)
CLCN7Osteopetrosis
COL1A1Caffey disease, Ehlers-Danlos syndrome, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
COL1A2Ehlers-Danlos syndrome, cardiac valvular form, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
COL2A1Achondrogenesis 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
COL9A1Multiple epiphyseal dysplasia type 6 (EDM6), Stickler syndrome recessive type
COL9A2Multiple epiphyseal dysplasia type 2 (EDM2), Stickler syndrome
COL9A3Multiple epihyseal dysplasia type 3 (EDM3)
COL10A1Metaphyseal chondrodysplasia, Schmid
COL11A1Fibrochondrogenesis, Marshall syndrome, Stickler syndrome type 2
COL11A2Deafness, Fibrochondrogenesis, Otospondylomegaepiphyseal dysplasia, Stickler syndrome type 3 (non-ocular), Weissenbacher-Zweymuller syndrome
COMPMultiple ephiphyseal dysplasia, Pseudoachondroplasia
CRTAPOsteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
CSPP1Jeune Asphyxiating Thoracic Dystrophy, Joubert syndrome
CTSKPycnodysostosis
CUL73-M syndrome, Yakut short stature syndrome
CYP27B1Vitamin D-dependent rickets
DHCR24Desmosterolosis
DLL3Spondylocostal dysostosis
DVL1Robinow syndrome
DYMDyggve-Melchior-Clausen dysplasia, Smith-McCort dysplasia
DYNC2H1Asphyxiating 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
EBPChondrodysplasia punctata, Male EBP disorder with neurologic defects (MEND)
EIF2AK3SED, Wolcott-Rallison type
ENPP1Arterial calcification, Hypophosphatemic rickets
ESCO2Roberts syndrome, SC phocomelia syndrome
EVCEllis-van Creveld syndrome, Weyers acrofacial dysostosis
EVC2Ellis-van Creveld syndrome, Weyers acrodental dysostosis
FAM20CHypophosphatemia, hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis (Raine syndrome)
FGF23Hypophosphatemic rickets, Tumoral calcinosis, hyperphosphatemic
FGFR1Hartsfield syndrome, Hypogonadotropic hypogonadism, Osteoglophonic Dwarfism - Craniostenosis, Pfeiffer syndrome, Trigonocephaly
FGFR2Antley-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
FGFR3Achondroplasia, 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
FKBP10Bruck syndrome type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
FLNAFrontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects
FLNBAtelosteogenesis type 1, Atelosteogenesis type 3, Larsen syndrome (dominant), Spondylo-carpal-tarsal dyspasia
GDF5Acromesomelic dysplasia, Hunter-Thompson, Brachydactyly type A2, Brachydactyly type C, Chondrodysplasia, Fibular hypoplasia and complex brachydactyly, Grebe dysplasia, Multiple synostoses syndrome, Symphalangism, proximal
GNPATRhizomelic chondrodysplasia punctata, rhizomelic
HSPG2Dyssegmental dysplasia Rolland-Desbuquis type, Dyssegmental dysplasia Silverman-Handmaker type, Schwartz-Jampel syndrome
IFT80Asphyxiating thoracic dysplasia (ATD; Jeune), Short -rib thoracic dysplasia with or without polydactyly
IFT140Asphyxiating thoracic dysplasia (ATD; Jeune), Short -rib thoracic dysplasia with or without polydactyly
IFT172Asphyxiating thoracic dysplasia (ATD; Jeune), Retinitis pigmentosa, Short -rib thoracic dysplasia with or without polydactyly
IHHAcrocapitofemoral dysplasia, Brachydactyly, Syndactyly type Lueken
IKBKGEctodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, Immunodeficiency, Incontinentia pigmenti, Invasive pneumococcal disease, recurrent, isolated, Osteopetrosis with ectodermal dysplasia and immune defect (OLEDAID)
KAT6BGenitopatellar syndrome, Ohdo syndrome, SBBYS variant
LBRGreenberg/HEM skeletal dysplasia, Hydrops-ectopic calcification-moth-eaten skeletal dysplasia, Pelger-Huet anomaly, Reynolds syndrome
LIFRSchwartz-Jampel type 2 syndrome, Stuve-Wiedemann dysplasia
LMX1BNail-patella syndrome
LRP5Exudative vitreoretinopathy, Hyperostosis, endosteal, LRP5 primary osteoporosis, Osteopetrosis late-onset form type 1, Osteoporosis-pseudoglioma syndrome, Osteosclerosis, Van Buchem disease
LTBP2Glaucoma, primary congenital, Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Weill-Marchesani syndrome
MATN3Multiple epiphyseal dysplasia type 5 (EDM5), Spondyloepimetaphyseal dysplasia Matrilin type
MMP9Metaphyseal anadysplasia
NEK1SRPS type 2 (Majewski), Short -rib thoracic dysplasia with or without polydactyly
NPR2Acromesomelic dysplasia type Maroteaux, Epiphyseal chondrodysplasia, Miura, Short stature with nonspecific skeletal abnormalities
OBSL13-M syndrome
ORC1Meier-Gorlin syndrome (Ear-patella-short stature syndrome)
ORC4Meier-Gorlin syndrome (Ear-patella-short stature syndrome)
ORC6Meier-Gorlin syndrome (Ear-patella-short stature syndrome)
P3H1Osteogenesis imperfecta
PAPSS2Brachyolmia 4 with mild epiphyseal and metaphyseal changes, SEMD PAPPS2 type
PCNTMicrocephalic osteodysplastic primordial dwarfism
PEX7Refsum disease, Rhizomelic CDP type 1
PHEXHypophosphatemic rickets
PLOD2Bruck syndrome, Osteogenesis imperfecta type 3
PPIBOsteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
PTH1RBlomstrand dysplasia, Eiken dysplasia, Failure of tooth eruption, Metaphyseal chondrodysplasia Jansen type
RMRPAnauxetic dysplasia, Cartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis
RNU4ATACMicrocephalic osteodysplastic primordial dwarfism type 1, Microcephalic osteodysplastic primordial dwarfism type 3, Roifman syndrome
ROR2Brachydactyly type B, Robinow syndrome recessive type
RUNX2Cleidocranial dysplasia, Metaphyseal dysplasia with maxillary hypoplasia
SBDSAplastic anemia, Severe spondylometaphyseal dysplasia, Shwachman-Diamond syndrome
SERPINF1Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
SERPINH1Osteogenesis imperfecta type 3
SHOXLanger mesomelic dysplasia, Leri-Weill dyschondrosteosis, Short stature
SLC26A2Achondrogenesis type 1B, Atelosteogenesis type 2, De la Chapelle dysplasia, Diastrophic dysplasia, Recessive Multiple Epiphyseal dysplasia
SLC34A3Hypophosphatemic rickets with hypercalciuria
SLC39A13Spondylodysplastic Ehlers-Danlos syndrome
SMAD4Hereditary hemorrhagic telangiectasia, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre dysplasia, Polyposis, juvenile intestinal
SMARCAL1Schimke immunoosseous dysplasia
SOX946,XY sex reversal, Brachydactyly with anonychia (Cooks syndrome), Campomelic dysplasia
TCIRG1Osteopetrosis, severe neonatal or infantile forms (OPTB1)
TGFB1Diaphyseal dysplasia Camurati-Engelmann
TNFRSF11AFamilial expansile osteolysis, Osteopetrosis, severe neonatal or infantile forms (OPTB1), Paget disease of bone
TNFRSF11BPaget disease of bone, juvenile
TRAPPC2Spondyloepiphyseal dysplasia tarda
TRPV4Brachyolmia (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
TTC21BAsphyxiating thoracic dysplasia (ATD; Jeune), Nephronophthisis, Short-rib thoracic dysplasia
VDRVitamin D-dependent rickets
WDR19Asphyxiating 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
WDR35Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Short rib-polydactyly syndrome type 5
WISP3Arthropathy, progressive pseudorheumatoid, of childhood, Spondyloepiphyseal dysplasia tarda with progressive arthropathy
WNT5ARobinow syndrome
Panel Completo de Anomalías Esqueléticas / Síndromes de Malformaciones
ABCC6Pseudoxanthoma elasticum
ACP5Spondyloenchondrodysplasia with immune dysregulation
ACTA1Myopathy
ACTBBaraitser-Winter syndrome
ACTG1Baraitser-Winter syndrome, Deafness
ACVR1Fibrodysplasia ossificans progressiva
ADAMTS2Ehlers-Danlos syndrome
ADAMTS10Weill-Marchesani syndrome
ADAMTSL2Geleophysic dysplasia
ADGRG1Polymicrogyria, bilateral frontoparietal, Polymicrogyris, bilateral perisylvian
AGPSRhizomelic chondrodysplasia punctata type 3
AGRNMyasthenic syndrome, congenital
AKT1Cowden syndrome, Proteus syndrome
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
ALPLHypophosphatasia perinatal lethal, infantile, juvenile and adult forms, Odontohypophosphatasia
ALX3Frontonasal dysplasia type 1
ALX4Frontonasal dysplasia type 2, Parietal foramina
AMER1Osteopathia striata with cranial sclerosis
ANKHCalcium pyrophosphate deposition disease (familial chondrocalcinosis type 2), Craniometaphyseal dysplasia autosomal dominant type
ANO5Gnathodiaphyseal dysplasia, LGMD2L and distal MMD3 muscular dystrophies
ARFGEF2Heterotopia, periventricular
ARHGAP31Adams-Oliver syndrome
ARID1ACoffin-Siris syndrome, Mental retardation
ARID1BCoffin-Siris syndrome, Mental retardation
ARSEChondrodysplasia punctata X-linked recessive, brachytelephalangic type (CDPX1)
ARXCorpus callosum, agenesis of, with abnormal genitalia, Epileptic encephalopathy, Hydranencephaly with abnormal genitalia, Lissencephaly, Mental retardation, Partington syndrome, Proud syndrome
ASPAAspartoacylase deficiency (Canavan disease)
ASPMMicrocephaly
ASXL1Bohring-Opitz syndrome
ATP6V0A2Cutis laxa, Wrinkly skin syndrome
ATRCutaneous telangiectasia and cancer syndrome, Seckel syndrome
B3GALNT2Muscular dystrophy-dystroglycanopathy
B3GALT6Ehlers-Danlos syndrome, Spondyloepimetaphyseal dysplasia with joint laxity
B4GALT7Ehlers-Danlos syndrome, progeroid form
BHLHA9Gollop-Wolfgang, Split hand-foot malformation with long bone deficiency (SHFLD3), Syndactyly Malik-Percin type, mesoaxial synostotic, with phalangeal reduction
BIN1Myopathy, centronuclear
BMP1Osteogenesis imperfecta
BMP2Brachydactyly type A2
BMP4Microphthalmia, syndromic, Orofacial cleft
BMPR1APolyposis, juvenile intestinal
BMPR1BAcromesomelic dysplasia, Demirhan, Brachydactyly C/Symphalangism-like pheno, Brachydactyly type A2
BRWD3Mental retardation
CA2Osteopetrosis, with renal tubular acidosis
CANT1Desbuquois dysplasia
CAPN3Eosinophilic myositis, Muscular dystrophy, limb-girdle
CASKFG syndrome, Mental retardation, Mental retardation and microcephaly with pontine and cerebellar hypoplasia
CASRFamilial Hypocalciuric hypercalcemia with transient Neonatal hyperparathyroidism, Hypocalcemia, Neonatal hyperparathyroidism
CBSHomocystinuria due to cystathionine beta-synthase deficiency
CCM2Cerebral cavernous malformations
CCND2Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
CDC6Meier-Gorlin syndrome (Ear-patella-short stature syndrome)
CDK5RAP2Microcephaly
CDKN1CBeckwith-Wiedemann syndrome, IMAGE syndrome
CDONHoloprosencephaly
CDT1Meier-Gorlin syndrome (Ear-patella-short stature syndrome)
CENPFCiliary dyskinesia -Lethal Ciliopathy
CENPJMicrocephaly, Seckel syndrome
CEP63Seckel syndrome
CEP152Microcephaly, Seckel syndrome
CEP164Nephronophthisis
CFL2Nemaline myopathy
CHATMyasthenic syndrome, congenital
CHD7CHARGE syndrome, Isolated gonadotropin-releasing hormone deficiency
CHD8Autism
CHKBMuscular dystrophy, congenital, megaconial
CHRNA1Myasthenic syndrome, congenital
CHRNB1Myasthenic syndrome
CHRNDMyasthenic syndrome
CHRNEMyasthenic syndrome
CHRNGEscobar syndrome, Multiple pterygium syndrome
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome)
CHST14Ehlers-Danlos syndrome, musculocontractural
CLCN5Dent disease, Hypophosphatemic rickets,, Nephrolithiasis, I, Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis
CLCN7Osteopetrosis
COL1A1Caffey disease, Ehlers-Danlos syndrome, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
COL1A2Ehlers-Danlos syndrome, cardiac valvular form, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
COL2A1Achondrogenesis 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
COL3A1Ehlers-Danlos syndrome
COL4A1Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Anterior segment dysgenesis with cerebral involvement, Brain small vessel disease, Porencephaly, Retinal artery tortuosity, Schizencephaly
COL4A2Hemorrhage, intracerebral
COL4A4Alport syndrome
COL5A1Ehlers-Danlos syndrome
COL5A2Ehlers-Danlos syndrome
COL6A1Bethlem myopathy, Ullrich congenital muscular dystrophy
COL6A2Bethlem myopathy, Epilepsy, progressive myoclonic, Myosclerosis, congenital, Ullrich congenital muscular dystrophy
COL6A3Bethlem myopathy, Dystonia, Ullrich congenital muscular dystrophy
COL9A1Multiple epiphyseal dysplasia type 6 (EDM6), Stickler syndrome recessive type
COL9A2Multiple epiphyseal dysplasia type 2 (EDM2), Stickler syndrome
COL9A3Multiple epihyseal dysplasia type 3 (EDM3)
COL10A1Metaphyseal chondrodysplasia, Schmid
COL11A1Fibrochondrogenesis, Marshall syndrome, Stickler syndrome type 2
COL11A2Deafness, Fibrochondrogenesis, Otospondylomegaepiphyseal dysplasia, Stickler syndrome type 3 (non-ocular), Weissenbacher-Zweymuller syndrome
COLQMyasthenic syndrome, congenital
COMPMultiple ephiphyseal dysplasia, Pseudoachondroplasia
CREBBPRubinstein-Taybi syndrome
CRTAPOsteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
CSPP1Jeune Asphyxiating Thoracic Dystrophy, Joubert syndrome
CTSKPycnodysostosis
CUL4BMental retardation, syndromic, Cabezas
CUL73-M syndrome, Yakut short stature syndrome
CYP27B1Vitamin D-dependent rickets
DCXLissencephaly, Subcortical laminal heterotopia
DHCR7Smith-Lemli-Opitz syndrome
DHCR24Desmosterolosis
DIS3L2Perlman syndrome
DLL3Spondylocostal dysostosis
DLL4Adams-Oliver syndrome
DLX3Amelogenesis imperfecta, Trichodontoosseous syndrome
DNM2Charcot-Marie-Tooth disease, Lethal akinesia and musculoskeletal abnormalities, with brain and retinal hemorrhages, Myopathy
DNMT3ATatton-Brown-Rahman syndrome
DOCK6Adams-Oliver syndrome
DOK7Myasthenic syndrome, congenital
DPAGT1Congenital disorder of glycosylation, Myasthenic syndrome, congenital
DVL1Robinow syndrome
DYMDyggve-Melchior-Clausen dysplasia, Smith-McCort dysplasia
DYNC1H1Charcot-Marie-Tooth disease, Mental retardation, Spinal muscular atrophy
DYNC2H1Asphyxiating 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
DYRK1AMental retardation
EBPChondrodysplasia punctata, Male EBP disorder with neurologic defects (MEND)
ECEL1Arthrogryposis
EDN3Central hypoventilation syndrome, congenital, Hirschsprung disease, Waardenburg syndrome
EDNRBABCD syndrome, Hirschsprung disease, Waardenburg syndrome
EFEMP2Cutis laxa
EFNB1Craniofrontonasal dysplasia
EFTUD2Esophageal atresia, syndromic, Mandibulofacial dysostosis with microcephaly
EGR2Charcot-Marie-Tooth disease, Dejerine-Sottas disease, Neuropathy
EIF2AK3SED, Wolcott-Rallison type
EIF2B5Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy
ELNCutis laxa, Supravalvular aortic stenosis
EMDEmery-Dreifuss muscular dystrophy
EMX2Schizencephaly
ENAMAmelogenesis imperfecta
ENPP1Arterial calcification, Hypophosphatemic rickets
EOGTAdams-Oliver syndrome
EP300Rubinstein-Taybi syndrome
ERCC5Xeroderma pigmentosum, Xeroderma pigmentosum/Cockayne syndrome
ERCC6De Sanctis-Cacchione syndrome, Xeroderma Pigmentosum-Cockayne Syndrome
ERCC8Cockayne syndrome, UV-sensitive syndrome
ESCO2Roberts syndrome, SC phocomelia syndrome
EVCEllis-van Creveld syndrome, Weyers acrofacial dysostosis
EVC2Ellis-van Creveld syndrome, Weyers acrodental dysostosis
EXOSC3Pontocerebellar hypoplasia
EXT1Multiple cartilagenious exostoses 1
EXT2Multiple cartilagenious exostoses 2
EYA1Branchiootic syndrome, Branchiootorenal syndrome, Otofaciocervical syndrome
EZH2Weaver syndrome
FAM20AAmelogenesis imperfecta (Enamel-renal syndrome)
FAM20CHypophosphatemia, hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis (Raine syndrome)
FAM83HAmelogenesis imperfecta
FANCBFanconi anemia
FANCCFanconi anemia
FBLN5Cutis laxa, Macular degeneration, age-related
FBN1Acromicric dysplasia, Geleophysic dysplasia, MASS syndrome, Marfan syndrome, Shprintzen-Goldberg syndrome, Weill-Marchesani syndrome
FBN2Congenital contractural arachnodactyly (Beals syndrome)
FGD1Aarskog-Scott syndrome, Mental retardation, syndromic
FGF3Deafness, congenital with inner ear agenesis, microtia, and microdontia
FGF8Hypogonadotropic hypogonadism
FGF23Hypophosphatemic rickets, Tumoral calcinosis, hyperphosphatemic
FGFR1Hartsfield syndrome, Hypogonadotropic hypogonadism, Osteoglophonic Dwarfism - Craniostenosis, Pfeiffer syndrome, Trigonocephaly
FGFR2Antley-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
FGFR3Achondroplasia, 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
FHHereditary leiomyomatosis and renal cell cancer
FHL1Emery-Dreifuss muscular dystrophy, Myopathy with postural muscle atrophy, Reducing bod myopathy
FKBP10Bruck syndrome type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
FKBP14Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
FKRPMuscular dystrophy-dystroglycanopathy
FKTNDilated cardiomyopathy (DCM), Muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (limb-girdle)
FLNAFrontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects
FLNBAtelosteogenesis type 1, Atelosteogenesis type 3, Larsen syndrome (dominant), Spondylo-carpal-tarsal dyspasia
FOXH1Congenital heart malformations, Holoprosencephaly
FOXL2Blepharophimosis, epicanthus inversus, and ptosis, Premature ovarian failure
FREM1Bifid nose, Manitoba oculotrichoanal syndrome, Trigonocephaly
GAAGlycogen storage disease
GBAGaucher disease
GBE1Glycogen storage disease
GDF5Acromesomelic dysplasia, Hunter-Thompson, Brachydactyly type A2, Brachydactyly type C, Chondrodysplasia, Fibular hypoplasia and complex brachydactyly, Grebe dysplasia, Multiple synostoses syndrome, Symphalangism, proximal
GFAPAlexander disease
GFPT1Myasthenic syndrome, congenital
GH1Isolated growth hormone deficiency, Kowarski syndrome
GHRGrowth hormone insensitivity syndrome (Laron syndrome)
GHRHRIsolated growth hormone deficiency
GJA1Oculodentodigital dysplasia mild type, Oculodentodigital dysplasia severe type, Syndactyly type 3
GLE1Arthrogryposis, lethal, with anterior horn cell disease, Lethal congenital contracture syndrome
GLI2Culler-Jones syndrome
GLI3Acrocallosal syndrome, Grieg cephalopolysndactyly syndrome, Pallister-Hall syndrome, Postaxial polydactyly type A, Preaxial polydactyly type 3, Preaxial polydactyly type 4
GMPPBLimb-girdle muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
GNASAlbright hereditary osteodystrophy, McCune-Albright syndrome, Progressive osseous heteroplasia, Pseudohypoparathyroidism
GNPATRhizomelic chondrodysplasia punctata, rhizomelic
GPC3Simpson-Golabi-Behmel syndrome
GPSM2Chudley-McCullough syndrome, Deafness
GRIA3Mental retardation
HDAC8Cornelia de Lange syndrome
HEPACAMMegalencephalic leukoencephalopathy with subcortical cysts, remitting
HESX1Pituitary hormone deficiency, combined, Septooptic dysplasia
HOXA13Guttmacher syndrome, Hand-foot-genital syndrome, Hand-foot-uterus syndrome
HOXD13Brachydactyly type D, Brachydactyly-syndactyly syndrome, Syndactyly, Synopolydactyly, Synopolydactyly with clefting
HSPG2Dyssegmental dysplasia Rolland-Desbuquis type, Dyssegmental dysplasia Silverman-Handmaker type, Schwartz-Jampel syndrome
HUWE1Mental retardation, syndromic, Turner
IFT80Asphyxiating thoracic dysplasia (ATD; Jeune), Short -rib thoracic dysplasia with or without polydactyly
IFT122Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Sensenbrenner syndrome
IFT140Asphyxiating thoracic dysplasia (ATD; Jeune), Short -rib thoracic dysplasia with or without polydactyly
IFT172Asphyxiating thoracic dysplasia (ATD; Jeune), Retinitis pigmentosa, Short -rib thoracic dysplasia with or without polydactyly
IGF1Insulin-like growth factor I deficiency
IGF1RInsulin-like growth factor I, resistance
IGFALSInsulin-like growth factor-binding protein, acid-labile subunit, deficiency
IHHAcrocapitofemoral dysplasia, Brachydactyly, Syndactyly type Lueken
IKBKGEctodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, Immunodeficiency, Incontinentia pigmenti, Invasive pneumococcal disease, recurrent, isolated, Osteopetrosis with ectodermal dysplasia and immune defect (OLEDAID)
INSRDonohoe syndrome, Hyperinsulinemic hypoglycemia, familial, Rabson-Mendenhall syndrome
IRF6Orofacial cleft, Popliteal pterygium syndrome, van der Woude syndrome
IRS1Diabetes mellitus, noninsulin-dependent
ISPDMuscular dystrophy-dystroglycanopathy
KAT6BGenitopatellar syndrome, Ohdo syndrome, SBBYS variant
KBTBD13Nemaline myopathy
KDM6AKabuki syndrome
KIAA0196Ritscher-Schinzel syndrome (3C syndrome), Spastic paraplegia
KIF1BPGoldberg-Shprintzen megacolon syndrome
KIF7Acrocallosal syndrome, Al-Gazali-Bakalinova syndrome, Hydrolethalus syndrome, Joubert syndrome
KIF11Microcephaly
KITGastrointestinal stromal tumor
KLHL40Nemaline myopathy
KMT2DKabuki syndrome
KRASCardiofaciocutaneous syndrome, Noonan syndrome
KRIT1Cerebral cavernous malformations
L1CAMCRASH 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
LAMA2Muscular dystrophy, congenital merosin-deficient, Schizophrenia
LAMP2Danon disease
LARGEMuscular dystrophy-dystroglycanopathy
LBRGreenberg/HEM skeletal dysplasia, Hydrops-ectopic calcification-moth-eaten skeletal dysplasia, Pelger-Huet anomaly, Reynolds syndrome
LEMD3Buschke-Ollendorff syndrome, Osteopoikilosis
LHX3Pituitary hormone deficiency, combined
LHX4Pituitary hormone deficiency, combined
LIFRSchwartz-Jampel type 2 syndrome, Stuve-Wiedemann dysplasia
LIG4LIG4 syndrome, Severe combined immunodeficiency with sensitivity to ionizing radiation
LMNADilated 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
LMX1BNail-patella syndrome
LRP4Cenani-Lenz syndactyly syndrome, Myasthenic syndrome, congenital, Sclerosteosis
LRP5Exudative vitreoretinopathy, Hyperostosis, endosteal, LRP5 primary osteoporosis, Osteopetrosis late-onset form type 1, Osteoporosis-pseudoglioma syndrome, Osteosclerosis, Van Buchem disease
LTBP2Glaucoma, primary congenital, Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Weill-Marchesani syndrome
MASP13MC syndrome
MATN3Multiple epiphyseal dysplasia type 5 (EDM5), Spondyloepimetaphyseal dysplasia Matrilin type
MBD5Mental retardation
MCPH1Microcephaly
MED12FG syndrome, Lujan-Fryns syndrome, Mental retardation, with Marfanoid habitus, Ohdo syndrome, Opitz-Kaveggia syndrome
MEF2CMental retardation
MID1Opitz GBBB syndrome
MITFMelanoma, cutaneous malignant, Renal cell carcinoma with or without malignant melanoma, Tietz albinism-deafness syndrome, Waardenburg syndrome
MLC1Megalencephalic leukoencephalopathy with subcortical cysts
MMP9Metaphyseal anadysplasia
MPZCharcot-Marie-Tooth disease, Dejerine-Sottas disease, Neuropathy, Roussy-Levy syndrome
MRE11AAtaxia-telangiectasia-like disorder-1
MSX2Craniosynostosis Boston type, Parietal foramina, Parietal foramina with cleidocranial dysplasia
MTM1Myopathy, centronuclear
MUSKMyasthenic syndrome, congenital
MYBPC1Arthrogryposis, Lethal congenital contractural syndrome
MYH2Inclusion body myopathy
MYH3Arthrogryposis
MYH7Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Myopathy, distal, Myopathy, myosin storage
NALCNCongenital contractures of the limbs and face, hypotonia, and developmental delay, Neuroaxonal neurodegeneration, infantile, with facial dysmophism
NDE1Lissencephaly, Microhydranencephaly
NEBNemaline myopathy
NEK1SRPS type 2 (Majewski), Short -rib thoracic dysplasia with or without polydactyly
NF1Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome
NF2Neurofibromatosis, Schwannomatosis
NFIXMarshall-Smithsyndrome
NHEJ1Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
NIPBLCornelia de Lange syndrome
NODALHeterotaxy, visceral
NOGBrachydactyly type B2, Multiple synostosis syndrome, Stapes ankylosis with broad thumb and toes (Teunissen-Cremers syndrome), Symphalangism, proximal, Tarsal-carpal coalition syndrome
NOTCH1Aortic valve disease
NOTCH2Alagille syndrome, Hajdu-Cheney syndrome
NPR2Acromesomelic dysplasia type Maroteaux, Epiphyseal chondrodysplasia, Miura, Short stature with nonspecific skeletal abnormalities
NR5A146,XY sex reversal, Adrenocortical insufficiency, Premature ovarian failure
NRG1Nonsyndromic Hirschsprung disease
NSD1Beckwith-Wiedemann syndrome, Sotos syndrome, Weaver syndrome
NSDHLCK syndrome, Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome)
OBSL13-M syndrome
OCRLDent disease, Lowe syndrome
OFD1Joubert syndrome, Orofaciodigital syndrome, Retinitis pigmentosa, Simpson-Golabi-Behmel syndrome
OPHN1Mental retardation, with cerebellar hypoplasia and distinctive facial appearance
ORC1Meier-Gorlin syndrome (Ear-patella-short stature syndrome)
ORC4Meier-Gorlin syndrome (Ear-patella-short stature syndrome)
ORC6Meier-Gorlin syndrome (Ear-patella-short stature syndrome)
OTX2Microphthalmia, syndromic, Pituitary hormone deficiency, combined, Retinal dystrophy, early-onset, and pituitary dysfunction
P3H1Osteogenesis imperfecta
PAFAH1B1Lissencephaly, Subcortical laminar heterotopia
PAPSS2Brachyolmia 4 with mild epiphyseal and metaphyseal changes, SEMD PAPPS2 type
PAX3Craniofacial-deafness-hand syndrome, Waardenburg syndrome
PAX6Aniridia, 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
PCNTMicrocephalic osteodysplastic primordial dwarfism
PDCD10Cerebral cavernous malformations
PEX7Refsum disease, Rhizomelic CDP type 1
PHEXHypophosphatemic rickets
PHF6Borjeson-Forssman-Lehmann syndrome
PIEZO2Distal arthrogryposis, Marden-Walker syndrome
PIGAMultiple congenital anomalies-hypotonia-seizures syndrome
PIK3CACLOVES, Cowden syndrome
PITX2Axenfeld-Rieger syndrome, Iridogoniodysgenesis, Peters anomaly, Ring dermoid of cornea
PLOD1Ehlers-Danlos syndrome
PLOD2Bruck syndrome, Osteogenesis imperfecta type 3
PMM2Congenital disorder of glycosylation
PNKPAtaxia-oculomotor, Epileptic encephalopathy, early infantile
POLR1CTreacher Collins syndrome
POMGNT1Muscular dystrophy-dystroglycanopathy
POMT1Muscular dystrophy-dystroglycanopathy
POMT2Muscular dystrophy-dystroglycanopathy
PORAntley-Bixler syndrome, Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
POU1F1Pituitary hormone deficiency, combined
PPIBOsteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
PQBP1Renpenning syndrome
PRKAR1AAcrodysostosis, Carney complex, Myxoma, intracardiac, Pigmented nodular adrenocortical disease
PROP1Pituitary hormone deficiency, combined
PTCH1Basal cell nevus syndrome
PTENBannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Lhermitte-Duclos syndrome
PTH1RBlomstrand dysplasia, Eiken dysplasia, Failure of tooth eruption, Metaphyseal chondrodysplasia Jansen type
PTPN11LEOPARD syndrome, Metachondromatosis, Noonan syndrome
PYCR1Cutis laxa AR type 2B
RAB3GAP1Warburg micro syndrome
RAB3GAP2Martsolf syndrome, Warburg micro syndrome
RAB39BMental retardation, Waisman parkinsonism-mental retardation syndrome
RAF1Dilated cardiomyopathy (DCM), LEOPARD syndrome, Noonan syndrome
RAPSNMyasthenic syndrome, congenital
RARS2Pontocerebellar hypoplasia
RASA1Capillary malformation-arteriovenous malformation, Parkes Weber syndrome, Spinal arteriovenous anomalies
RBBP8Jawad syndrome, Seckel syndrome
RBPJAdams-Oliver syndrome
RECQL4Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndrome
RELNEpilepsy, familial temporal lobe, Lissencephaly
RETCentral hypoventilation syndrome, congenital, Hirschsprung disease, Medullary thyroid carcinoma, Multiple endocrine neoplasia, Pheochromocytoma
RMRPAnauxetic dysplasia, Cartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis
RNU4ATACMicrocephalic osteodysplastic primordial dwarfism type 1, Microcephalic osteodysplastic primordial dwarfism type 3, Roifman syndrome
ROR2Brachydactyly type B, Robinow syndrome recessive type
RUNX2Cleidocranial dysplasia, Metaphyseal dysplasia with maxillary hypoplasia
RYR1Central core disease, Centronuclear myopathy, Malignant hyperthermia, Minicore myopathy, Minicore myopathy with external ophthalmoplegia, Multicore myopathy
SBDSAplastic anemia, Severe spondylometaphyseal dysplasia, Shwachman-Diamond syndrome
SCO2Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Hypertrophic cardiomyopathy (HCM), Leigh syndrome, Myopia
SELENONMuscular dystrophy, rigid spine, Myopathy, congenital, with fiber- disproportion
SERPINF1Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
SERPINH1Osteogenesis imperfecta type 3
SF3B4Acrofacial dysostosis 1, Nager
SHHHoloprosencephaly, Microphthalmia with coloboma
SHOXLanger mesomelic dysplasia, Leri-Weill dyschondrosteosis, Short stature
SIL1Marinesco-Sjogren syndrome
SIX3Holoprosencephaly
SIX5Branchiootorenal syndrome
SKIShprintzen-Goldberg syndrome
SLC12A6Agenesis of the corpus callosum with peripheral neuropathy (Andermann syndrome)
SLC26A2Achondrogenesis type 1B, Atelosteogenesis type 2, De la Chapelle dysplasia, Diastrophic dysplasia, Recessive Multiple Epiphyseal dysplasia
SLC29A3Dysosteosclerosis, Histiocytosis-lymphadenopathy plus syndrome
SLC34A3Hypophosphatemic rickets with hypercalciuria
SLC39A13Spondylodysplastic Ehlers-Danlos syndrome
SLCO2A1Hypertrophic osteoarthropathy
SMAD3Aneurysms-osteoarthritis syndrome, Loeys-Dietz syndrome
SMAD4Hereditary hemorrhagic telangiectasia, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre dysplasia, Polyposis, juvenile intestinal
SMARCA2Nicolaides-Baraitser syndrome
SMARCA4Rhabdoid tumor predisposition syndrome
SMARCAL1Schimke immunoosseous dysplasia
SMARCB1Rhabdoid tumor predisposition syndrome, Schwannomatosis
SMC1ACornelia de Lange syndrome
SMC3Cornelia de Lange syndrome
SOS1Noonan syndrome
SOX2Microphthalmia, syndromic
SOX3Panhypopituitarism
SOX946,XY sex reversal, Brachydactyly with anonychia (Cooks syndrome), Campomelic dysplasia
SOX10Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
SPRED1Legius syndrome
SRCAPFloating-Harbor syndrome
SRPX2Rolandic epilepsy, mental retardation, and speech dyspraxia
SRY46,XX disorder of sex development, 46,XY disorder of sex development
STAT5BGrowth hormone insensitivity with immunodeficiency
STILMicrocephaly
SYN1Epilepsy, with variable learning disabilities and behavior disorders
TBX3Ulnar-Mammary syndrome
TBX19Adrenocorticotropic hormone deficiency
TCF12Craniosynostosis
TCIRG1Osteopetrosis, severe neonatal or infantile forms (OPTB1)
TCOF1Treacher Collins syndrome
TCTN3Joubert syndrome, Orofaciodigital syndrome (Mohr-Majewski syndrome)
TGFB1Diaphyseal dysplasia Camurati-Engelmann
TGFB2Loeys-Dietz syndrome
TGFB3Arrhythmogenic right ventricular dysplasia, Loeys-Dietz syndrome (Reinhoff syndrome)
TGFBR1Loeys-Dietz syndrome
TGFBR2Loeys-Dietz syndrome
TGIF1Holoprosencephaly
TK2Mitochondrial DNA depletion syndrome
TMEM5Muscular dystrophy-dystroglycanopathy
TMEM43Arrhythmogenic right ventricular dysplasia, Emery-Dreifuss muscular dystrophy
TNFRSF11AFamilial expansile osteolysis, Osteopetrosis, severe neonatal or infantile forms (OPTB1), Paget disease of bone
TNFRSF11BPaget disease of bone, juvenile
TNNI2Arthrogryposis multiplex congenita
TNNT1Nemaline myopathy
TNXBEhlers-Danlos syndrome
TP63ADULT 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
TPM2Arthrogryposis, distal, CAP myopathy, Nemaline myopathy
TPM3CAP myopathy, Myopathy, congenital, with fiber- disproportion, Nemaline myopathy
TRAPPC2Spondyloepiphyseal dysplasia tarda
TRPS1Trichorhinophalangeal syndrome type 1, Trichorhinophalangeal syndrome type 3
TRPV4Brachyolmia (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
TSC1Lymphangioleiomyomatosis, Tuberous sclerosis
TSC2Lymphangioleiomyomatosis, Tuberous sclerosis
TSEN2Pontocerebellar hypoplasia
TSEN54Pontocerebellar hypoplasia
TTC7AGastrointestinal defects and immunodeficiency syndrome
TTC21BAsphyxiating thoracic dysplasia (ATD; Jeune), Nephronophthisis, Short-rib thoracic dysplasia
TTRAmyloidosis, hereditary, transthyretin-related, Dystransthyretinemic hyperthyroxinemia
TUBA1ALissencephaly
TUBA8Polymicrogyria with optic nerve hypoplasia
TUBB2BPolymicrogyria, asymmetric
TUBB3Cortical dysplasia, complex, with other brain malformations, Fibrosis of extraocular muscles, congenital
TWIST1Craniosynostosis, Robinow-Sorauf syndrome, Saethre-Chotzen syndrome
TXNL4ABurn-McKeown syndrome
TYROBPNasu-Hakola disease, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
UBE2AMental retardation, syndromic, Nascimento
UPF3BMental retardation, syndromic
VDRVitamin D-dependent rickets
VLDLRCerebellar ataxia, mental retardation, and dysequilibrium syndrome
VPS33BArthrogryposis - renal dysfunction - cholestasis
VRK1Pontocerebellar hypoplasia
WDR19Asphyxiating 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
WDR34Asphyxiating thoracic dysplasia (ATD; Jeune), Short -rib thoracic dysplasia with or without polydactyly
WDR35Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Short rib-polydactyly syndrome type 5
WDR62Microcephaly
WISP3Arthropathy, progressive pseudorheumatoid, of childhood, Spondyloepiphyseal dysplasia tarda with progressive arthropathy
WNT5ARobinow syndrome
WNT10AOdontoonychodermal dysplasia, Schopf-Schulz-Passarge syndrome, Tooth agenesis, selective
YWHAE17p13.3 microduplication syndrome, Distal 17p13.3 microdeletion syndrome, Endometrial stromal sarcoma, Miller-Dieker syndrome
ZBTB42Lethal congenital contracture syndrome
ZEB2Mowat-Wilson syndrome
ZIC2Holoprosencephaly
ZNF469Brittle cornea syndrome
Panel Completo de Enfermedades y Displasias Esqueléticas
ACP5Spondyloenchondrodysplasia with immune dysregulation
ACVR1Fibrodysplasia ossificans progressiva
ADAMTS10Weill-Marchesani syndrome
ADAMTSL2Geleophysic dysplasia
AGPSRhizomelic chondrodysplasia punctata type 3
AKT1Cowden syndrome, Proteus syndrome
ALPLHypophosphatasia perinatal lethal, infantile, juvenile and adult forms, Odontohypophosphatasia
ALX3Frontonasal dysplasia type 1
ALX4Frontonasal dysplasia type 2, Parietal foramina
AMER1Osteopathia striata with cranial sclerosis
ANKHCalcium pyrophosphate deposition disease (familial chondrocalcinosis type 2), Craniometaphyseal dysplasia autosomal dominant type
ANO5Gnathodiaphyseal dysplasia, LGMD2L and distal MMD3 muscular dystrophies
ARHGAP31Adams-Oliver syndrome
ARSEChondrodysplasia punctata X-linked recessive, brachytelephalangic type (CDPX1)
ATP6V0A2Cutis laxa, Wrinkly skin syndrome
B3GALT6Ehlers-Danlos syndrome, Spondyloepimetaphyseal dysplasia with joint laxity
B4GALT7Ehlers-Danlos syndrome, progeroid form
BHLHA9Gollop-Wolfgang, Split hand-foot malformation with long bone deficiency (SHFLD3), Syndactyly Malik-Percin type, mesoaxial synostotic, with phalangeal reduction
BMP1Osteogenesis imperfecta
BMP2Brachydactyly type A2
BMPR1BAcromesomelic dysplasia, Demirhan, Brachydactyly C/Symphalangism-like pheno, Brachydactyly type A2
CA2Osteopetrosis, with renal tubular acidosis
CANT1Desbuquois dysplasia
CASRFamilial Hypocalciuric hypercalcemia with transient Neonatal hyperparathyroidism, Hypocalcemia, Neonatal hyperparathyroidism
CDC6Meier-Gorlin syndrome (Ear-patella-short stature syndrome)
CDKN1CBeckwith-Wiedemann syndrome, IMAGE syndrome
CDT1Meier-Gorlin syndrome (Ear-patella-short stature syndrome)
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome)
CHST14Ehlers-Danlos syndrome, musculocontractural
CLCN5Dent disease, Hypophosphatemic rickets,, Nephrolithiasis, I, Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis
CLCN7Osteopetrosis
COL1A1Caffey disease, Ehlers-Danlos syndrome, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
COL1A2Ehlers-Danlos syndrome, cardiac valvular form, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
COL2A1Achondrogenesis 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
COL9A1Multiple epiphyseal dysplasia type 6 (EDM6), Stickler syndrome recessive type
COL9A2Multiple epiphyseal dysplasia type 2 (EDM2), Stickler syndrome
COL9A3Multiple epihyseal dysplasia type 3 (EDM3)
COL10A1Metaphyseal chondrodysplasia, Schmid
COL11A1Fibrochondrogenesis, Marshall syndrome, Stickler syndrome type 2
COL11A2Deafness, Fibrochondrogenesis, Otospondylomegaepiphyseal dysplasia, Stickler syndrome type 3 (non-ocular), Weissenbacher-Zweymuller syndrome
COMPMultiple ephiphyseal dysplasia, Pseudoachondroplasia
CREBBPRubinstein-Taybi syndrome
CRTAPOsteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
CSPP1Jeune Asphyxiating Thoracic Dystrophy, Joubert syndrome
CTSKPycnodysostosis
CUL73-M syndrome, Yakut short stature syndrome
CYP27B1Vitamin D-dependent rickets
DHCR24Desmosterolosis
DLL3Spondylocostal dysostosis
DLL4Adams-Oliver syndrome
DLX3Amelogenesis imperfecta, Trichodontoosseous syndrome
DOCK6Adams-Oliver syndrome
DVL1Robinow syndrome
DYMDyggve-Melchior-Clausen dysplasia, Smith-McCort dysplasia
DYNC2H1Asphyxiating 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
EBPChondrodysplasia punctata, Male EBP disorder with neurologic defects (MEND)
EFNB1Craniofrontonasal dysplasia
EFTUD2Esophageal atresia, syndromic, Mandibulofacial dysostosis with microcephaly
EIF2AK3SED, Wolcott-Rallison type
ENAMAmelogenesis imperfecta
ENPP1Arterial calcification, Hypophosphatemic rickets
EOGTAdams-Oliver syndrome
EP300Rubinstein-Taybi syndrome
ESCO2Roberts syndrome, SC phocomelia syndrome
EVCEllis-van Creveld syndrome, Weyers acrofacial dysostosis
EVC2Ellis-van Creveld syndrome, Weyers acrodental dysostosis
EXT1Multiple cartilagenious exostoses 1
EXT2Multiple cartilagenious exostoses 2
EZH2Weaver syndrome
FAM20AAmelogenesis imperfecta (Enamel-renal syndrome)
FAM20CHypophosphatemia, hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis (Raine syndrome)
FAM83HAmelogenesis imperfecta
FANCBFanconi anemia
FANCCFanconi anemia
FBN1Acromicric dysplasia, Geleophysic dysplasia, MASS syndrome, Marfan syndrome, Shprintzen-Goldberg syndrome, Weill-Marchesani syndrome
FBN2Congenital contractural arachnodactyly (Beals syndrome)
FGF23Hypophosphatemic rickets, Tumoral calcinosis, hyperphosphatemic
FGFR1Hartsfield syndrome, Hypogonadotropic hypogonadism, Osteoglophonic Dwarfism - Craniostenosis, Pfeiffer syndrome, Trigonocephaly
FGFR2Antley-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
FGFR3Achondroplasia, 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
FKBP10Bruck syndrome type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
FLNAFrontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects
FLNBAtelosteogenesis type 1, Atelosteogenesis type 3, Larsen syndrome (dominant), Spondylo-carpal-tarsal dyspasia
GDF5Acromesomelic dysplasia, Hunter-Thompson, Brachydactyly type A2, Brachydactyly type C, Chondrodysplasia, Fibular hypoplasia and complex brachydactyly, Grebe dysplasia, Multiple synostoses syndrome, Symphalangism, proximal
GJA1Oculodentodigital dysplasia mild type, Oculodentodigital dysplasia severe type, Syndactyly type 3
GLI3Acrocallosal syndrome, Grieg cephalopolysndactyly syndrome, Pallister-Hall syndrome, Postaxial polydactyly type A, Preaxial polydactyly type 3, Preaxial polydactyly type 4
GNASAlbright hereditary osteodystrophy, McCune-Albright syndrome, Progressive osseous heteroplasia, Pseudohypoparathyroidism
GNPATRhizomelic chondrodysplasia punctata, rhizomelic
HDAC8Cornelia de Lange syndrome
HOXA13Guttmacher syndrome, Hand-foot-genital syndrome, Hand-foot-uterus syndrome
HOXD13Brachydactyly type D, Brachydactyly-syndactyly syndrome, Syndactyly, Synopolydactyly, Synopolydactyly with clefting
HSPG2Dyssegmental dysplasia Rolland-Desbuquis type, Dyssegmental dysplasia Silverman-Handmaker type, Schwartz-Jampel syndrome
IFT80Asphyxiating thoracic dysplasia (ATD; Jeune), Short -rib thoracic dysplasia with or without polydactyly
IFT122Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Sensenbrenner syndrome
IFT140Asphyxiating thoracic dysplasia (ATD; Jeune), Short -rib thoracic dysplasia with or without polydactyly
IFT172Asphyxiating thoracic dysplasia (ATD; Jeune), Retinitis pigmentosa, Short -rib thoracic dysplasia with or without polydactyly
IHHAcrocapitofemoral dysplasia, Brachydactyly, Syndactyly type Lueken
IKBKGEctodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, Immunodeficiency, Incontinentia pigmenti, Invasive pneumococcal disease, recurrent, isolated, Osteopetrosis with ectodermal dysplasia and immune defect (OLEDAID)
KAT6BGenitopatellar syndrome, Ohdo syndrome, SBBYS variant
KIF7Acrocallosal syndrome, Al-Gazali-Bakalinova syndrome, Hydrolethalus syndrome, Joubert syndrome
LBRGreenberg/HEM skeletal dysplasia, Hydrops-ectopic calcification-moth-eaten skeletal dysplasia, Pelger-Huet anomaly, Reynolds syndrome
LEMD3Buschke-Ollendorff syndrome, Osteopoikilosis
LIFRSchwartz-Jampel type 2 syndrome, Stuve-Wiedemann dysplasia
LMNADilated 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
LMX1BNail-patella syndrome
LRP4Cenani-Lenz syndactyly syndrome, Myasthenic syndrome, congenital, Sclerosteosis
LRP5Exudative vitreoretinopathy, Hyperostosis, endosteal, LRP5 primary osteoporosis, Osteopetrosis late-onset form type 1, Osteoporosis-pseudoglioma syndrome, Osteosclerosis, Van Buchem disease
LTBP2Glaucoma, primary congenital, Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Weill-Marchesani syndrome
MATN3Multiple epiphyseal dysplasia type 5 (EDM5), Spondyloepimetaphyseal dysplasia Matrilin type
MMP9Metaphyseal anadysplasia
MSX2Craniosynostosis Boston type, Parietal foramina, Parietal foramina with cleidocranial dysplasia
NEK1SRPS type 2 (Majewski), Short -rib thoracic dysplasia with or without polydactyly
NF1Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome
NFIXMarshall-Smithsyndrome
NIPBLCornelia de Lange syndrome
NOGBrachydactyly type B2, Multiple synostosis syndrome, Stapes ankylosis with broad thumb and toes (Teunissen-Cremers syndrome), Symphalangism, proximal, Tarsal-carpal coalition syndrome
NOTCH2Alagille syndrome, Hajdu-Cheney syndrome
NPR2Acromesomelic dysplasia type Maroteaux, Epiphyseal chondrodysplasia, Miura, Short stature with nonspecific skeletal abnormalities
NSD1Beckwith-Wiedemann syndrome, Sotos syndrome, Weaver syndrome
NSDHLCK syndrome, Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome)
OBSL13-M syndrome
ORC1Meier-Gorlin syndrome (Ear-patella-short stature syndrome)
ORC4Meier-Gorlin syndrome (Ear-patella-short stature syndrome)
ORC6Meier-Gorlin syndrome (Ear-patella-short stature syndrome)
P3H1Osteogenesis imperfecta
PAPSS2Brachyolmia 4 with mild epiphyseal and metaphyseal changes, SEMD PAPPS2 type
PCNTMicrocephalic osteodysplastic primordial dwarfism
PEX7Refsum disease, Rhizomelic CDP type 1
PHEXHypophosphatemic rickets
PIK3CACLOVES, Cowden syndrome
PLOD2Bruck syndrome, Osteogenesis imperfecta type 3
POLR1CTreacher Collins syndrome
PORAntley-Bixler syndrome, Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
PPIBOsteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
PRKAR1AAcrodysostosis, Carney complex, Myxoma, intracardiac, Pigmented nodular adrenocortical disease
PTH1RBlomstrand dysplasia, Eiken dysplasia, Failure of tooth eruption, Metaphyseal chondrodysplasia Jansen type
PTPN11LEOPARD syndrome, Metachondromatosis, Noonan syndrome
PYCR1Cutis laxa AR type 2B
RBPJAdams-Oliver syndrome
RECQL4Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndrome
RMRPAnauxetic dysplasia, Cartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis
RNU4ATACMicrocephalic osteodysplastic primordial dwarfism type 1, Microcephalic osteodysplastic primordial dwarfism type 3, Roifman syndrome
ROR2Brachydactyly type B, Robinow syndrome recessive type
RUNX2Cleidocranial dysplasia, Metaphyseal dysplasia with maxillary hypoplasia
SBDSAplastic anemia, Severe spondylometaphyseal dysplasia, Shwachman-Diamond syndrome
SERPINF1Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
SERPINH1Osteogenesis imperfecta type 3
SF3B4Acrofacial dysostosis 1, Nager
SHOXLanger mesomelic dysplasia, Leri-Weill dyschondrosteosis, Short stature
SKIShprintzen-Goldberg syndrome
SLC26A2Achondrogenesis type 1B, Atelosteogenesis type 2, De la Chapelle dysplasia, Diastrophic dysplasia, Recessive Multiple Epiphyseal dysplasia
SLC29A3Dysosteosclerosis, Histiocytosis-lymphadenopathy plus syndrome
SLC34A3Hypophosphatemic rickets with hypercalciuria
SLC39A13Spondylodysplastic Ehlers-Danlos syndrome
SLCO2A1Hypertrophic osteoarthropathy
SMAD3Aneurysms-osteoarthritis syndrome, Loeys-Dietz syndrome
SMAD4Hereditary hemorrhagic telangiectasia, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre dysplasia, Polyposis, juvenile intestinal
SMARCAL1Schimke immunoosseous dysplasia
SMC1ACornelia de Lange syndrome
SMC3Cornelia de Lange syndrome
SOX946,XY sex reversal, Brachydactyly with anonychia (Cooks syndrome), Campomelic dysplasia
TBX3Ulnar-Mammary syndrome
TCF12Craniosynostosis
TCIRG1Osteopetrosis, severe neonatal or infantile forms (OPTB1)
TCOF1Treacher Collins syndrome
TCTN3Joubert syndrome, Orofaciodigital syndrome (Mohr-Majewski syndrome)
TGFB1Diaphyseal dysplasia Camurati-Engelmann
TGFB2Loeys-Dietz syndrome
TGFB3Arrhythmogenic right ventricular dysplasia, Loeys-Dietz syndrome (Reinhoff syndrome)
TGFBR1Loeys-Dietz syndrome
TGFBR2Loeys-Dietz syndrome
TNFRSF11AFamilial expansile osteolysis, Osteopetrosis, severe neonatal or infantile forms (OPTB1), Paget disease of bone
TNFRSF11BPaget disease of bone, juvenile
TP63ADULT 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
TRAPPC2Spondyloepiphyseal dysplasia tarda
TRPS1Trichorhinophalangeal syndrome type 1, Trichorhinophalangeal syndrome type 3
TRPV4Brachyolmia (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
TTC21BAsphyxiating thoracic dysplasia (ATD; Jeune), Nephronophthisis, Short-rib thoracic dysplasia
TWIST1Craniosynostosis, Robinow-Sorauf syndrome, Saethre-Chotzen syndrome
TYROBPNasu-Hakola disease, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
VDRVitamin D-dependent rickets
WDR19Asphyxiating 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
WDR34Asphyxiating thoracic dysplasia (ATD; Jeune), Short -rib thoracic dysplasia with or without polydactyly
WDR35Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Short rib-polydactyly syndrome type 5
WISP3Arthropathy, progressive pseudorheumatoid, of childhood, Spondyloepiphyseal dysplasia tarda with progressive arthropathy
WNT5ARobinow syndrome
Panel Completo de Síndromes de Talla Baja
AKT1Cowden syndrome, Proteus syndrome
ATRCutaneous telangiectasia and cancer syndrome, Seckel syndrome
BMP2Brachydactyly type A2
BMP4Microphthalmia, syndromic, Orofacial cleft
BMPR1APolyposis, juvenile intestinal
CDC6Meier-Gorlin syndrome (Ear-patella-short stature syndrome)
CDT1Meier-Gorlin syndrome (Ear-patella-short stature syndrome)
CENPJMicrocephaly, Seckel syndrome
CEP63Seckel syndrome
CEP152Microcephaly, Seckel syndrome
CREBBPRubinstein-Taybi syndrome
CUL73-M syndrome, Yakut short stature syndrome
DHCR7Smith-Lemli-Opitz syndrome
EP300Rubinstein-Taybi syndrome
EYA1Branchiootic syndrome, Branchiootorenal syndrome, Otofaciocervical syndrome
FGD1Aarskog-Scott syndrome, Mental retardation, syndromic
FGF3Deafness, congenital with inner ear agenesis, microtia, and microdontia
FGFR3Achondroplasia, 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
FOXL2Blepharophimosis, epicanthus inversus, and ptosis, Premature ovarian failure
GH1Isolated growth hormone deficiency, Kowarski syndrome
GHRGrowth hormone insensitivity syndrome (Laron syndrome)
GHRHRIsolated growth hormone deficiency
GLI2Culler-Jones syndrome
HESX1Pituitary hormone deficiency, combined, Septooptic dysplasia
IGF1Insulin-like growth factor I deficiency
IGF1RInsulin-like growth factor I, resistance
IGFALSInsulin-like growth factor-binding protein, acid-labile subunit, deficiency
INSRDonohoe syndrome, Hyperinsulinemic hypoglycemia, familial, Rabson-Mendenhall syndrome
IRS1Diabetes mellitus, noninsulin-dependent
KRASCardiofaciocutaneous syndrome, Noonan syndrome
LHX3Pituitary hormone deficiency, combined
LHX4Pituitary hormone deficiency, combined
NIPBLCornelia de Lange syndrome
NOTCH2Alagille syndrome, Hajdu-Cheney syndrome
NR5A146,XY sex reversal, Adrenocortical insufficiency, Premature ovarian failure
OBSL13-M syndrome
ORC1Meier-Gorlin syndrome (Ear-patella-short stature syndrome)
ORC4Meier-Gorlin syndrome (Ear-patella-short stature syndrome)
ORC6Meier-Gorlin syndrome (Ear-patella-short stature syndrome)
OTX2Microphthalmia, syndromic, Pituitary hormone deficiency, combined, Retinal dystrophy, early-onset, and pituitary dysfunction
PCNTMicrocephalic osteodysplastic primordial dwarfism
PITX2Axenfeld-Rieger syndrome, Iridogoniodysgenesis, Peters anomaly, Ring dermoid of cornea
POU1F1Pituitary hormone deficiency, combined
PROP1Pituitary hormone deficiency, combined
PTCH1Basal cell nevus syndrome
PTPN11LEOPARD syndrome, Metachondromatosis, Noonan syndrome
RAF1Dilated cardiomyopathy (DCM), LEOPARD syndrome, Noonan syndrome
RBBP8Jawad syndrome, Seckel syndrome
RNU4ATACMicrocephalic osteodysplastic primordial dwarfism type 1, Microcephalic osteodysplastic primordial dwarfism type 3, Roifman syndrome
SHHHoloprosencephaly, Microphthalmia with coloboma
SHOXLanger mesomelic dysplasia, Leri-Weill dyschondrosteosis, Short stature
SIX3Holoprosencephaly
SMC1ACornelia de Lange syndrome
SOS1Noonan syndrome
SOX2Microphthalmia, syndromic
SOX3Panhypopituitarism
STAT5BGrowth hormone insensitivity with immunodeficiency
TBX3Ulnar-Mammary syndrome
TBX19Adrenocorticotropic hormone deficiency
TGIF1Holoprosencephaly
ZIC2Holoprosencephaly
Panel de Atresia Gastrointestinal
CHD7CHARGE syndrome, Isolated gonadotropin-releasing hormone deficiency
FANCBFanconi anemia
FANCCFanconi anemia
GLI3Acrocallosal syndrome, Grieg cephalopolysndactyly syndrome, Pallister-Hall syndrome, Postaxial polydactyly type A, Preaxial polydactyly type 3, Preaxial polydactyly type 4
MID1Opitz GBBB syndrome
SOX2Microphthalmia, syndromic
TTC7AGastrointestinal defects and immunodeficiency syndrome
Panel de Artrogriposis
ACTA1Myopathy
AGRNMyasthenic syndrome, congenital
BIN1Myopathy, centronuclear
CASKFG syndrome, Mental retardation, Mental retardation and microcephaly with pontine and cerebellar hypoplasia
CFL2Nemaline myopathy
CHATMyasthenic syndrome, congenital
CHRNA1Myasthenic syndrome, congenital
CHRNB1Myasthenic syndrome
CHRNDMyasthenic syndrome
CHRNEMyasthenic syndrome
CHRNGEscobar syndrome, Multiple pterygium syndrome
CHST14Ehlers-Danlos syndrome, musculocontractural
COL6A2Bethlem myopathy, Epilepsy, progressive myoclonic, Myosclerosis, congenital, Ullrich congenital muscular dystrophy
COLQMyasthenic syndrome, congenital
DHCR24Desmosterolosis
DOK7Myasthenic syndrome, congenital
DPAGT1Congenital disorder of glycosylation, Myasthenic syndrome, congenital
ECEL1Arthrogryposis
EGR2Charcot-Marie-Tooth disease, Dejerine-Sottas disease, Neuropathy
ERCC5Xeroderma pigmentosum, Xeroderma pigmentosum/Cockayne syndrome
ERCC6De Sanctis-Cacchione syndrome, Xeroderma Pigmentosum-Cockayne Syndrome
EXOSC3Pontocerebellar hypoplasia
FBN2Congenital contractural arachnodactyly (Beals syndrome)
FHL1Emery-Dreifuss muscular dystrophy, Myopathy with postural muscle atrophy, Reducing bod myopathy
FKTNDilated cardiomyopathy (DCM), Muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (limb-girdle)
GBAGaucher disease
GBE1Glycogen storage disease
GFPT1Myasthenic syndrome, congenital
GLE1Arthrogryposis, lethal, with anterior horn cell disease, Lethal congenital contracture syndrome
KAT6BGenitopatellar syndrome, Ohdo syndrome, SBBYS variant
KLHL40Nemaline myopathy
MPZCharcot-Marie-Tooth disease, Dejerine-Sottas disease, Neuropathy, Roussy-Levy syndrome
MTM1Myopathy, centronuclear
MUSKMyasthenic syndrome, congenital
MYBPC1Arthrogryposis, Lethal congenital contractural syndrome
MYH2Inclusion body myopathy
MYH3Arthrogryposis
NALCNCongenital contractures of the limbs and face, hypotonia, and developmental delay, Neuroaxonal neurodegeneration, infantile, with facial dysmophism
NEBNemaline myopathy
PIEZO2Distal arthrogryposis, Marden-Walker syndrome
PLOD2Bruck syndrome, Osteogenesis imperfecta type 3
PMM2Congenital disorder of glycosylation
RAPSNMyasthenic syndrome, congenital
RARS2Pontocerebellar hypoplasia
SCO2Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Hypertrophic cardiomyopathy (HCM), Leigh syndrome, Myopia
SELENONMuscular dystrophy, rigid spine, Myopathy, congenital, with fiber- disproportion
TGFB3Arrhythmogenic right ventricular dysplasia, Loeys-Dietz syndrome (Reinhoff syndrome)
TK2Mitochondrial DNA depletion syndrome
TNNI2Arthrogryposis multiplex congenita
TNNT1Nemaline myopathy
TPM2Arthrogryposis, distal, CAP myopathy, Nemaline myopathy
TPM3CAP myopathy, Myopathy, congenital, with fiber- disproportion, Nemaline myopathy
TRPV4Brachyolmia (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
TSEN2Pontocerebellar hypoplasia
TSEN54Pontocerebellar hypoplasia
VPS33BArthrogryposis - renal dysfunction - cholestasis
VRK1Pontocerebellar hypoplasia
ZBTB42Lethal congenital contracture syndrome
Panel de Braquidactilia y Sindactilia
BMPR1BAcromesomelic dysplasia, Demirhan, Brachydactyly C/Symphalangism-like pheno, Brachydactyly type A2
ESCO2Roberts syndrome, SC phocomelia syndrome
GDF5Acromesomelic dysplasia, Hunter-Thompson, Brachydactyly type A2, Brachydactyly type C, Chondrodysplasia, Fibular hypoplasia and complex brachydactyly, Grebe dysplasia, Multiple synostoses syndrome, Symphalangism, proximal
GNASAlbright hereditary osteodystrophy, McCune-Albright syndrome, Progressive osseous heteroplasia, Pseudohypoparathyroidism
HOXA13Guttmacher syndrome, Hand-foot-genital syndrome, Hand-foot-uterus syndrome
HOXD13Brachydactyly type D, Brachydactyly-syndactyly syndrome, Syndactyly, Synopolydactyly, Synopolydactyly with clefting
IHHAcrocapitofemoral dysplasia, Brachydactyly, Syndactyly type Lueken
NOGBrachydactyly type B2, Multiple synostosis syndrome, Stapes ankylosis with broad thumb and toes (Teunissen-Cremers syndrome), Symphalangism, proximal, Tarsal-carpal coalition syndrome
RECQL4Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndrome
ROR2Brachydactyly type B, Robinow syndrome recessive type
SOX946,XY sex reversal, Brachydactyly with anonychia (Cooks syndrome), Campomelic dysplasia
TP63ADULT 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
AGPSRhizomelic chondrodysplasia punctata type 3
ARSEChondrodysplasia punctata X-linked recessive, brachytelephalangic type (CDPX1)
EBPChondrodysplasia punctata, Male EBP disorder with neurologic defects (MEND)
GNPATRhizomelic chondrodysplasia punctata, rhizomelic
LBRGreenberg/HEM skeletal dysplasia, Hydrops-ectopic calcification-moth-eaten skeletal dysplasia, Pelger-Huet anomaly, Reynolds syndrome
NSDHLCK syndrome, Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome)
PEX7Refsum disease, Rhizomelic CDP type 1
Panel de Craneosinóstosis
ALPLHypophosphatasia perinatal lethal, infantile, juvenile and adult forms, Odontohypophosphatasia
ALX3Frontonasal dysplasia type 1
ALX4Frontonasal dysplasia type 2, Parietal foramina
BMP4Microphthalmia, syndromic, Orofacial cleft
EDN3Central hypoventilation syndrome, congenital, Hirschsprung disease, Waardenburg syndrome
EDNRBABCD syndrome, Hirschsprung disease, Waardenburg syndrome
EFNB1Craniofrontonasal dysplasia
ESCO2Roberts syndrome, SC phocomelia syndrome
FGFR1Hartsfield syndrome, Hypogonadotropic hypogonadism, Osteoglophonic Dwarfism - Craniostenosis, Pfeiffer syndrome, Trigonocephaly
FGFR2Antley-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
FGFR3Achondroplasia, 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
FLNBAtelosteogenesis type 1, Atelosteogenesis type 3, Larsen syndrome (dominant), Spondylo-carpal-tarsal dyspasia
FREM1Bifid nose, Manitoba oculotrichoanal syndrome, Trigonocephaly
GDF5Acromesomelic dysplasia, Hunter-Thompson, Brachydactyly type A2, Brachydactyly type C, Chondrodysplasia, Fibular hypoplasia and complex brachydactyly, Grebe dysplasia, Multiple synostoses syndrome, Symphalangism, proximal
GLI3Acrocallosal syndrome, Grieg cephalopolysndactyly syndrome, Pallister-Hall syndrome, Postaxial polydactyly type A, Preaxial polydactyly type 3, Preaxial polydactyly type 4
IFT122Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Sensenbrenner syndrome
IFT140Asphyxiating thoracic dysplasia (ATD; Jeune), Short -rib thoracic dysplasia with or without polydactyly
MASP13MC syndrome
MITFMelanoma, cutaneous malignant, Renal cell carcinoma with or without malignant melanoma, Tietz albinism-deafness syndrome, Waardenburg syndrome
MSX2Craniosynostosis Boston type, Parietal foramina, Parietal foramina with cleidocranial dysplasia
NOGBrachydactyly type B2, Multiple synostosis syndrome, Stapes ankylosis with broad thumb and toes (Teunissen-Cremers syndrome), Symphalangism, proximal, Tarsal-carpal coalition syndrome
PAX3Craniofacial-deafness-hand syndrome, Waardenburg syndrome
PORAntley-Bixler syndrome, Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
RECQL4Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndrome
RETCentral hypoventilation syndrome, congenital, Hirschsprung disease, Medullary thyroid carcinoma, Multiple endocrine neoplasia, Pheochromocytoma
SKIShprintzen-Goldberg syndrome
SOX10Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
TCF12Craniosynostosis
TGFBR1Loeys-Dietz syndrome
TGFBR2Loeys-Dietz syndrome
TTRAmyloidosis, hereditary, transthyretin-related, Dystransthyretinemic hyperthyroxinemia
TWIST1Craniosynostosis, Robinow-Sorauf syndrome, Saethre-Chotzen syndrome
WDR19Asphyxiating 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
WDR35Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Short rib-polydactyly syndrome type 5
Panel de Disostosis Facial y Trastornos Relacionados
ALPLHypophosphatasia perinatal lethal, infantile, juvenile and adult forms, Odontohypophosphatasia
ALX3Frontonasal dysplasia type 1
ALX4Frontonasal dysplasia type 2, Parietal foramina
CREBBPRubinstein-Taybi syndrome
DLL3Spondylocostal dysostosis
EFNB1Craniofrontonasal dysplasia
EFTUD2Esophageal atresia, syndromic, Mandibulofacial dysostosis with microcephaly
EP300Rubinstein-Taybi syndrome
EVCEllis-van Creveld syndrome, Weyers acrofacial dysostosis
EVC2Ellis-van Creveld syndrome, Weyers acrodental dysostosis
FGFR1Hartsfield syndrome, Hypogonadotropic hypogonadism, Osteoglophonic Dwarfism - Craniostenosis, Pfeiffer syndrome, Trigonocephaly
FGFR2Antley-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
FGFR3Achondroplasia, 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
GHRGrowth hormone insensitivity syndrome (Laron syndrome)
HDAC8Cornelia de Lange syndrome
HSPG2Dyssegmental dysplasia Rolland-Desbuquis type, Dyssegmental dysplasia Silverman-Handmaker type, Schwartz-Jampel syndrome
LIFRSchwartz-Jampel type 2 syndrome, Stuve-Wiedemann dysplasia
NIPBLCornelia de Lange syndrome
POLR1CTreacher Collins syndrome
RMRPAnauxetic dysplasia, Cartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis
SF3B4Acrofacial dysostosis 1, Nager
SMC1ACornelia de Lange syndrome
SMC3Cornelia de Lange syndrome
SOX946,XY sex reversal, Brachydactyly with anonychia (Cooks syndrome), Campomelic dysplasia
SRCAPFloating-Harbor syndrome
TCF12Craniosynostosis
TCOF1Treacher Collins syndrome
TWIST1Craniosynostosis, Robinow-Sorauf syndrome, Saethre-Chotzen syndrome
UBE2AMental retardation, syndromic, Nascimento
Panel de Displasia de Costilla Corta / Displasia Torácica Asfixiante
CSPP1Jeune Asphyxiating Thoracic Dystrophy, Joubert syndrome
DYNC2H1Asphyxiating 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
EVCEllis-van Creveld syndrome, Weyers acrofacial dysostosis
EVC2Ellis-van Creveld syndrome, Weyers acrodental dysostosis
GLI2Culler-Jones syndrome
IFT80Asphyxiating thoracic dysplasia (ATD; Jeune), Short -rib thoracic dysplasia with or without polydactyly
IFT122Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Sensenbrenner syndrome
IFT140Asphyxiating thoracic dysplasia (ATD; Jeune), Short -rib thoracic dysplasia with or without polydactyly
IFT172Asphyxiating thoracic dysplasia (ATD; Jeune), Retinitis pigmentosa, Short -rib thoracic dysplasia with or without polydactyly
NEK1SRPS type 2 (Majewski), Short -rib thoracic dysplasia with or without polydactyly
TCTN3Joubert syndrome, Orofaciodigital syndrome (Mohr-Majewski syndrome)
TTC21BAsphyxiating thoracic dysplasia (ATD; Jeune), Nephronophthisis, Short-rib thoracic dysplasia
WDR19Asphyxiating 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
WDR34Asphyxiating thoracic dysplasia (ATD; Jeune), Short -rib thoracic dysplasia with or without polydactyly
WDR35Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Short rib-polydactyly syndrome type 5
Panel de Displasia Esquelética con Mineralización Defectuosa
ALPLHypophosphatasia perinatal lethal, infantile, juvenile and adult forms, Odontohypophosphatasia
ANKHCalcium pyrophosphate deposition disease (familial chondrocalcinosis type 2), Craniometaphyseal dysplasia autosomal dominant type
B4GALT7Ehlers-Danlos syndrome, progeroid form
CASRFamilial Hypocalciuric hypercalcemia with transient Neonatal hyperparathyroidism, Hypocalcemia, Neonatal hyperparathyroidism
CLCN5Dent disease, Hypophosphatemic rickets,, Nephrolithiasis, I, Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis
COL1A1Caffey disease, Ehlers-Danlos syndrome, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
COL1A2Ehlers-Danlos syndrome, cardiac valvular form, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
COL3A1Ehlers-Danlos syndrome
COL5A1Ehlers-Danlos syndrome
COL5A2Ehlers-Danlos syndrome
CRTAPOsteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
CYP27B1Vitamin D-dependent rickets
ENPP1Arterial calcification, Hypophosphatemic rickets
FBN1Acromicric dysplasia, Geleophysic dysplasia, MASS syndrome, Marfan syndrome, Shprintzen-Goldberg syndrome, Weill-Marchesani syndrome
FGF23Hypophosphatemic rickets, Tumoral calcinosis, hyperphosphatemic
FKBP10Bruck syndrome type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
P3H1Osteogenesis imperfecta
PHEXHypophosphatemic rickets
PLOD2Bruck syndrome, Osteogenesis imperfecta type 3
PPIBOsteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
SERPINF1Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
SLC34A3Hypophosphatemic rickets with hypercalciuria
SLC39A13Spondylodysplastic Ehlers-Danlos syndrome
SOX946,XY sex reversal, Brachydactyly with anonychia (Cooks syndrome), Campomelic dysplasia
TNFRSF11AFamilial expansile osteolysis, Osteopetrosis, severe neonatal or infantile forms (OPTB1), Paget disease of bone
TNFRSF11BPaget disease of bone, juvenile
VDRVitamin D-dependent rickets
Panel de Displasia Metafisaria
ANKHCalcium pyrophosphate deposition disease (familial chondrocalcinosis type 2), Craniometaphyseal dysplasia autosomal dominant type
CDKN1CBeckwith-Wiedemann syndrome, IMAGE syndrome
COL10A1Metaphyseal chondrodysplasia, Schmid
FGFR3Achondroplasia, 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
FLNAFrontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects
MMP9Metaphyseal anadysplasia
PTH1RBlomstrand dysplasia, Eiken dysplasia, Failure of tooth eruption, Metaphyseal chondrodysplasia Jansen type
RMRPAnauxetic dysplasia, Cartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis
RUNX2Cleidocranial dysplasia, Metaphyseal dysplasia with maxillary hypoplasia
SBDSAplastic anemia, Severe spondylometaphyseal dysplasia, Shwachman-Diamond syndrome
Panel de Displasia Septo-Óptica
HESX1Pituitary hormone deficiency, combined, Septooptic dysplasia
OTX2Microphthalmia, syndromic, Pituitary hormone deficiency, combined, Retinal dystrophy, early-onset, and pituitary dysfunction
PAX6Aniridia, 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
SOX2Microphthalmia, syndromic
Panel de Enfermedad de Hirschsprung
EDN3Central hypoventilation syndrome, congenital, Hirschsprung disease, Waardenburg syndrome
EDNRBABCD syndrome, Hirschsprung disease, Waardenburg syndrome
KIF1BPGoldberg-Shprintzen megacolon syndrome
MITFMelanoma, cutaneous malignant, Renal cell carcinoma with or without malignant melanoma, Tietz albinism-deafness syndrome, Waardenburg syndrome
NRG1Nonsyndromic Hirschsprung disease
PAX3Craniofacial-deafness-hand syndrome, Waardenburg syndrome
RETCentral hypoventilation syndrome, congenital, Hirschsprung disease, Medullary thyroid carcinoma, Multiple endocrine neoplasia, Pheochromocytoma
SOX10Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
ZEB2Mowat-Wilson syndrome
Panel de Holoprosencefalia
CDONHoloprosencephaly
FGF8Hypogonadotropic hypogonadism
FGFR1Hartsfield syndrome, Hypogonadotropic hypogonadism, Osteoglophonic Dwarfism - Craniostenosis, Pfeiffer syndrome, Trigonocephaly
FOXH1Congenital heart malformations, Holoprosencephaly
GLI2Culler-Jones syndrome
GLI3Acrocallosal syndrome, Grieg cephalopolysndactyly syndrome, Pallister-Hall syndrome, Postaxial polydactyly type A, Preaxial polydactyly type 3, Preaxial polydactyly type 4
NODALHeterotaxy, visceral
PTCH1Basal cell nevus syndrome
SHHHoloprosencephaly, Microphthalmia with coloboma
SIX3Holoprosencephaly
TGIF1Holoprosencephaly
ZIC2Holoprosencephaly
Panel de Lisencefalia
ACTBBaraitser-Winter syndrome
ACTG1Baraitser-Winter syndrome, Deafness
ARXCorpus callosum, agenesis of, with abnormal genitalia, Epileptic encephalopathy, Hydranencephaly with abnormal genitalia, Lissencephaly, Mental retardation, Partington syndrome, Proud syndrome
DCXLissencephaly, Subcortical laminal heterotopia
FKTNDilated cardiomyopathy (DCM), Muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (limb-girdle)
LARGEMuscular dystrophy-dystroglycanopathy
PAFAH1B1Lissencephaly, Subcortical laminar heterotopia
POMGNT1Muscular dystrophy-dystroglycanopathy
POMT1Muscular dystrophy-dystroglycanopathy
POMT2Muscular dystrophy-dystroglycanopathy
RELNEpilepsy, familial temporal lobe, Lissencephaly
TUBA1ALissencephaly
TUBB2BPolymicrogyria, asymmetric
VLDLRCerebellar ataxia, mental retardation, and dysequilibrium syndrome
YWHAE17p13.3 microduplication syndrome, Distal 17p13.3 microdeletion syndrome, Endometrial stromal sarcoma, Miller-Dieker syndrome
Panel de Macrocefalia / Síndrome de Sobrecrecimiento
ABCC6Pseudoxanthoma elasticum
AKT1Cowden syndrome, Proteus syndrome
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
ASPAAspartoacylase deficiency (Canavan disease)
BRWD3Mental retardation
CCND2Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
CDKN1CBeckwith-Wiedemann syndrome, IMAGE syndrome
CHD8Autism
CUL4BMental retardation, syndromic, Cabezas
DHCR24Desmosterolosis
DIS3L2Perlman syndrome
DNMT3ATatton-Brown-Rahman syndrome
EIF2B5Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy
EZH2Weaver syndrome
GFAPAlexander disease
GLI3Acrocallosal syndrome, Grieg cephalopolysndactyly syndrome, Pallister-Hall syndrome, Postaxial polydactyly type A, Preaxial polydactyly type 3, Preaxial polydactyly type 4
GPC3Simpson-Golabi-Behmel syndrome
GPSM2Chudley-McCullough syndrome, Deafness
GRIA3Mental retardation
HEPACAMMegalencephalic leukoencephalopathy with subcortical cysts, remitting
HUWE1Mental retardation, syndromic, Turner
KIAA0196Ritscher-Schinzel syndrome (3C syndrome), Spastic paraplegia
KIF7Acrocallosal syndrome, Al-Gazali-Bakalinova syndrome, Hydrolethalus syndrome, Joubert syndrome
L1CAMCRASH 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
MED12FG syndrome, Lujan-Fryns syndrome, Mental retardation, with Marfanoid habitus, Ohdo syndrome, Opitz-Kaveggia syndrome
MLC1Megalencephalic leukoencephalopathy with subcortical cysts
NFIXMarshall-Smithsyndrome
NSD1Beckwith-Wiedemann syndrome, Sotos syndrome, Weaver syndrome
OFD1Joubert syndrome, Orofaciodigital syndrome, Retinitis pigmentosa, Simpson-Golabi-Behmel syndrome
PIGAMultiple congenital anomalies-hypotonia-seizures syndrome
PIK3CACLOVES, Cowden syndrome
PTCH1Basal cell nevus syndrome
PTENBannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Lhermitte-Duclos syndrome
RAB39BMental retardation, Waisman parkinsonism-mental retardation syndrome
SYN1Epilepsy, with variable learning disabilities and behavior disorders
TSC1Lymphangioleiomyomatosis, Tuberous sclerosis
TSC2Lymphangioleiomyomatosis, Tuberous sclerosis
UPF3BMental retardation, syndromic
Panel de Malformación Cavernosa Cerebral
CCM2Cerebral cavernous malformations
KRIT1Cerebral cavernous malformations
PDCD10Cerebral cavernous malformations
RASA1Capillary malformation-arteriovenous malformation, Parkes Weber syndrome, Spinal arteriovenous anomalies
Panel de Microcefalia e Hipoplasia Pontocerebelosa
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
ASPMMicrocephaly
ATRCutaneous telangiectasia and cancer syndrome, Seckel syndrome
CASKFG syndrome, Mental retardation, Mental retardation and microcephaly with pontine and cerebellar hypoplasia
CDK5RAP2Microcephaly
CENPFCiliary dyskinesia -Lethal Ciliopathy
CENPJMicrocephaly, Seckel syndrome
CEP63Seckel syndrome
CEP152Microcephaly, Seckel syndrome
CEP164Nephronophthisis
DYNC1H1Charcot-Marie-Tooth disease, Mental retardation, Spinal muscular atrophy
DYRK1AMental retardation
EFTUD2Esophageal atresia, syndromic, Mandibulofacial dysostosis with microcephaly
EXOSC3Pontocerebellar hypoplasia
KIF11Microcephaly
LIG4LIG4 syndrome, Severe combined immunodeficiency with sensitivity to ionizing radiation
MBD5Mental retardation
MCPH1Microcephaly
MRE11AAtaxia-telangiectasia-like disorder-1
NDE1Lissencephaly, Microhydranencephaly
NHEJ1Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
OPHN1Mental retardation, with cerebellar hypoplasia and distinctive facial appearance
PAFAH1B1Lissencephaly, Subcortical laminar heterotopia
PCNTMicrocephalic osteodysplastic primordial dwarfism
PNKPAtaxia-oculomotor, Epileptic encephalopathy, early infantile
POMT1Muscular dystrophy-dystroglycanopathy
PQBP1Renpenning syndrome
RARS2Pontocerebellar hypoplasia
STILMicrocephaly
TSEN2Pontocerebellar hypoplasia
TSEN54Pontocerebellar hypoplasia
TUBB2BPolymicrogyria, asymmetric
VRK1Pontocerebellar hypoplasia
WDR62Microcephaly
Panel de Micromelic Dysplasia
ADAMTS10Weill-Marchesani syndrome
ADAMTSL2Geleophysic dysplasia
BMPR1BAcromesomelic dysplasia, Demirhan, Brachydactyly C/Symphalangism-like pheno, Brachydactyly type A2
DVL1Robinow syndrome
EXT1Multiple cartilagenious exostoses 1
FBN1Acromicric dysplasia, Geleophysic dysplasia, MASS syndrome, Marfan syndrome, Shprintzen-Goldberg syndrome, Weill-Marchesani syndrome
FGFR3Achondroplasia, 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
GDF5Acromesomelic dysplasia, Hunter-Thompson, Brachydactyly type A2, Brachydactyly type C, Chondrodysplasia, Fibular hypoplasia and complex brachydactyly, Grebe dysplasia, Multiple synostoses syndrome, Symphalangism, proximal
GNASAlbright hereditary osteodystrophy, McCune-Albright syndrome, Progressive osseous heteroplasia, Pseudohypoparathyroidism
IFT122Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Sensenbrenner syndrome
IFT140Asphyxiating thoracic dysplasia (ATD; Jeune), Short -rib thoracic dysplasia with or without polydactyly
IHHAcrocapitofemoral dysplasia, Brachydactyly, Syndactyly type Lueken
LIFRSchwartz-Jampel type 2 syndrome, Stuve-Wiedemann dysplasia
LTBP2Glaucoma, primary congenital, Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Weill-Marchesani syndrome
NPR2Acromesomelic dysplasia type Maroteaux, Epiphyseal chondrodysplasia, Miura, Short stature with nonspecific skeletal abnormalities
PRKAR1AAcrodysostosis, Carney complex, Myxoma, intracardiac, Pigmented nodular adrenocortical disease
ROR2Brachydactyly type B, Robinow syndrome recessive type
SHOXLanger mesomelic dysplasia, Leri-Weill dyschondrosteosis, Short stature
SMAD4Hereditary hemorrhagic telangiectasia, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre dysplasia, Polyposis, juvenile intestinal
SOX946,XY sex reversal, Brachydactyly with anonychia (Cooks syndrome), Campomelic dysplasia
TRPS1Trichorhinophalangeal syndrome type 1, Trichorhinophalangeal syndrome type 3
WDR19Asphyxiating 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
WDR35Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Short rib-polydactyly syndrome type 5
WNT5ARobinow syndrome
Panel de Neurofibromatosis
KITGastrointestinal stromal tumor
NF1Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome
NF2Neurofibromatosis, Schwannomatosis
PTPN11LEOPARD syndrome, Metachondromatosis, Noonan syndrome
RAF1Dilated cardiomyopathy (DCM), LEOPARD syndrome, Noonan syndrome
SMARCB1Rhabdoid tumor predisposition syndrome, Schwannomatosis
SPRED1Legius syndrome
Panel de Osteogénesis Imperfecta
ACTA1Myopathy
ALPLHypophosphatasia perinatal lethal, infantile, juvenile and adult forms, Odontohypophosphatasia
ANO5Gnathodiaphyseal dysplasia, LGMD2L and distal MMD3 muscular dystrophies
ATP6V0A2Cutis laxa, Wrinkly skin syndrome
B3GALNT2Muscular dystrophy-dystroglycanopathy
B4GALT7Ehlers-Danlos syndrome, progeroid form
BMP1Osteogenesis imperfecta
CAPN3Eosinophilic myositis, Muscular dystrophy, limb-girdle
CFL2Nemaline myopathy
CHKBMuscular dystrophy, congenital, megaconial
CLCN5Dent disease, Hypophosphatemic rickets,, Nephrolithiasis, I, Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis
COL1A1Caffey disease, Ehlers-Danlos syndrome, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
COL1A2Ehlers-Danlos syndrome, cardiac valvular form, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
COL6A1Bethlem myopathy, Ullrich congenital muscular dystrophy
COL6A2Bethlem myopathy, Epilepsy, progressive myoclonic, Myosclerosis, congenital, Ullrich congenital muscular dystrophy
COL6A3Bethlem myopathy, Dystonia, Ullrich congenital muscular dystrophy
CRTAPOsteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
DNM2Charcot-Marie-Tooth disease, Lethal akinesia and musculoskeletal abnormalities, with brain and retinal hemorrhages, Myopathy
EMDEmery-Dreifuss muscular dystrophy
ENPP1Arterial calcification, Hypophosphatemic rickets
FGF23Hypophosphatemic rickets, Tumoral calcinosis, hyperphosphatemic
FHL1Emery-Dreifuss muscular dystrophy, Myopathy with postural muscle atrophy, Reducing bod myopathy
FKBP10Bruck syndrome type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
FKRPMuscular dystrophy-dystroglycanopathy
FKTNDilated cardiomyopathy (DCM), Muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (limb-girdle)
FLNAFrontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects
FLNBAtelosteogenesis type 1, Atelosteogenesis type 3, Larsen syndrome (dominant), Spondylo-carpal-tarsal dyspasia
GAAGlycogen storage disease
GMPPBLimb-girdle muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
ISPDMuscular dystrophy-dystroglycanopathy
KBTBD13Nemaline myopathy
KLHL40Nemaline myopathy
LAMA2Muscular dystrophy, congenital merosin-deficient, Schizophrenia
LAMP2Danon disease
LARGEMuscular dystrophy-dystroglycanopathy
LMNADilated 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
LRP5Exudative vitreoretinopathy, Hyperostosis, endosteal, LRP5 primary osteoporosis, Osteopetrosis late-onset form type 1, Osteoporosis-pseudoglioma syndrome, Osteosclerosis, Van Buchem disease
MYH7Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Myopathy, distal, Myopathy, myosin storage
NEBNemaline myopathy
OCRLDent disease, Lowe syndrome
P3H1Osteogenesis imperfecta
PHEXHypophosphatemic rickets
PIEZO2Distal arthrogryposis, Marden-Walker syndrome
PLOD2Bruck syndrome, Osteogenesis imperfecta type 3
POMGNT1Muscular dystrophy-dystroglycanopathy
POMT1Muscular dystrophy-dystroglycanopathy
POMT2Muscular dystrophy-dystroglycanopathy
PPIBOsteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
PYCR1Cutis laxa AR type 2B
RAPSNMyasthenic syndrome, congenital
RYR1Central core disease, Centronuclear myopathy, Malignant hyperthermia, Minicore myopathy, Minicore myopathy with external ophthalmoplegia, Multicore myopathy
SELENONMuscular dystrophy, rigid spine, Myopathy, congenital, with fiber- disproportion
SERPINF1Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
SERPINH1Osteogenesis imperfecta type 3
SIL1Marinesco-Sjogren syndrome
SLC34A3Hypophosphatemic rickets with hypercalciuria
TMEM5Muscular dystrophy-dystroglycanopathy
TMEM43Arrhythmogenic right ventricular dysplasia, Emery-Dreifuss muscular dystrophy
TNNT1Nemaline myopathy
TPM2Arthrogryposis, distal, CAP myopathy, Nemaline myopathy
TPM3CAP myopathy, Myopathy, congenital, with fiber- disproportion, Nemaline myopathy
Panel de Osteopetrosis y Displasia Fibrosa
AMER1Osteopathia striata with cranial sclerosis
ANKHCalcium pyrophosphate deposition disease (familial chondrocalcinosis type 2), Craniometaphyseal dysplasia autosomal dominant type
CA2Osteopetrosis, with renal tubular acidosis
CLCN7Osteopetrosis
COL1A1Caffey disease, Ehlers-Danlos syndrome, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
CTSKPycnodysostosis
DLX3Amelogenesis imperfecta, Trichodontoosseous syndrome
FAM20CHypophosphatemia, hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis (Raine syndrome)
GJA1Oculodentodigital dysplasia mild type, Oculodentodigital dysplasia severe type, Syndactyly type 3
IKBKGEctodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, Immunodeficiency, Incontinentia pigmenti, Invasive pneumococcal disease, recurrent, isolated, Osteopetrosis with ectodermal dysplasia and immune defect (OLEDAID)
LEMD3Buschke-Ollendorff syndrome, Osteopoikilosis
LRP4Cenani-Lenz syndactyly syndrome, Myasthenic syndrome, congenital, Sclerosteosis
LRP5Exudative vitreoretinopathy, Hyperostosis, endosteal, LRP5 primary osteoporosis, Osteopetrosis late-onset form type 1, Osteoporosis-pseudoglioma syndrome, Osteosclerosis, Van Buchem disease
PTH1RBlomstrand dysplasia, Eiken dysplasia, Failure of tooth eruption, Metaphyseal chondrodysplasia Jansen type
SLC29A3Dysosteosclerosis, Histiocytosis-lymphadenopathy plus syndrome
SLCO2A1Hypertrophic osteoarthropathy
TCIRG1Osteopetrosis, severe neonatal or infantile forms (OPTB1)
TGFB1Diaphyseal dysplasia Camurati-Engelmann
TNFRSF11AFamilial expansile osteolysis, Osteopetrosis, severe neonatal or infantile forms (OPTB1), Paget disease of bone
TNFRSF11BPaget disease of bone, juvenile
TYROBPNasu-Hakola disease, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Panel de Polimicrogiria
ADGRG1Polymicrogyria, bilateral frontoparietal, Polymicrogyris, bilateral perisylvian
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
CHD7CHARGE syndrome, Isolated gonadotropin-releasing hormone deficiency
FHHereditary leiomyomatosis and renal cell cancer
GPSM2Chudley-McCullough syndrome, Deafness
KIF1BPGoldberg-Shprintzen megacolon syndrome
NDE1Lissencephaly, Microhydranencephaly
NSDHLCK syndrome, Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome)
SRPX2Rolandic epilepsy, mental retardation, and speech dyspraxia
TUBA1ALissencephaly
TUBA8Polymicrogyria with optic nerve hypoplasia
TUBB2BPolymicrogyria, asymmetric
TUBB3Cortical dysplasia, complex, with other brain malformations, Fibrosis of extraocular muscles, congenital
WDR62Microcephaly
Panel de Síndrome 3M / Enanismo Primordial
ATRCutaneous telangiectasia and cancer syndrome, Seckel syndrome
CDC6Meier-Gorlin syndrome (Ear-patella-short stature syndrome)
CDT1Meier-Gorlin syndrome (Ear-patella-short stature syndrome)
CENPJMicrocephaly, Seckel syndrome
CEP63Seckel syndrome
CEP152Microcephaly, Seckel syndrome
CUL73-M syndrome, Yakut short stature syndrome
NOTCH2Alagille syndrome, Hajdu-Cheney syndrome
OBSL13-M syndrome
ORC1Meier-Gorlin syndrome (Ear-patella-short stature syndrome)
ORC4Meier-Gorlin syndrome (Ear-patella-short stature syndrome)
ORC6Meier-Gorlin syndrome (Ear-patella-short stature syndrome)
PCNTMicrocephalic osteodysplastic primordial dwarfism
RBBP8Jawad syndrome, Seckel syndrome
RNU4ATACMicrocephalic osteodysplastic primordial dwarfism type 1, Microcephalic osteodysplastic primordial dwarfism type 3, Roifman syndrome
Panel de Síndrome de Adams-Oliver
ARHGAP31Adams-Oliver syndrome
DLL4Adams-Oliver syndrome
DOCK6Adams-Oliver syndrome
EOGTAdams-Oliver syndrome
NOTCH1Aortic valve disease
RBPJAdams-Oliver syndrome
Panel de Síndrome de Cockayne
ERCC6De Sanctis-Cacchione syndrome, Xeroderma Pigmentosum-Cockayne Syndrome
ERCC8Cockayne syndrome, UV-sensitive syndrome
Panel de Síndrome de Kabuki
CHD7CHARGE syndrome, Isolated gonadotropin-releasing hormone deficiency
EYA1Branchiootic syndrome, Branchiootorenal syndrome, Otofaciocervical syndrome
FLNBAtelosteogenesis type 1, Atelosteogenesis type 3, Larsen syndrome (dominant), Spondylo-carpal-tarsal dyspasia
IRF6Orofacial cleft, Popliteal pterygium syndrome, van der Woude syndrome
KDM6AKabuki syndrome
KMT2DKabuki syndrome
SIX5Branchiootorenal syndrome
Panel de Síndrome de Meier-Gorlin
CDC6Meier-Gorlin syndrome (Ear-patella-short stature syndrome)
CDT1Meier-Gorlin syndrome (Ear-patella-short stature syndrome)
ORC1Meier-Gorlin syndrome (Ear-patella-short stature syndrome)
ORC4Meier-Gorlin syndrome (Ear-patella-short stature syndrome)
ORC6Meier-Gorlin syndrome (Ear-patella-short stature syndrome)
Panel de Síndrome de Seckel
ATRCutaneous telangiectasia and cancer syndrome, Seckel syndrome
CENPJMicrocephaly, Seckel syndrome
CEP63Seckel syndrome
CEP152Microcephaly, Seckel syndrome
PCNTMicrocephalic osteodysplastic primordial dwarfism
RBBP8Jawad syndrome, Seckel syndrome
Panel de Trastornos de Migración Neuronal
ACTBBaraitser-Winter syndrome
ACTG1Baraitser-Winter syndrome, Deafness
ADGRG1Polymicrogyria, bilateral frontoparietal, Polymicrogyris, bilateral perisylvian
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
ARFGEF2Heterotopia, periventricular
ARXCorpus callosum, agenesis of, with abnormal genitalia, Epileptic encephalopathy, Hydranencephaly with abnormal genitalia, Lissencephaly, Mental retardation, Partington syndrome, Proud syndrome
B3GALNT2Muscular dystrophy-dystroglycanopathy
CHD7CHARGE syndrome, Isolated gonadotropin-releasing hormone deficiency
COL4A1Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Anterior segment dysgenesis with cerebral involvement, Brain small vessel disease, Porencephaly, Retinal artery tortuosity, Schizencephaly
COL4A2Hemorrhage, intracerebral
COL4A4Alport syndrome
DCXLissencephaly, Subcortical laminal heterotopia
DYNC1H1Charcot-Marie-Tooth disease, Mental retardation, Spinal muscular atrophy
EMX2Schizencephaly
FHHereditary leiomyomatosis and renal cell cancer
FKTNDilated cardiomyopathy (DCM), Muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (limb-girdle)
FLNAFrontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects
GMPPBLimb-girdle muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
GPSM2Chudley-McCullough syndrome, Deafness
ISPDMuscular dystrophy-dystroglycanopathy
KIF1BPGoldberg-Shprintzen megacolon syndrome
KIF7Acrocallosal syndrome, Al-Gazali-Bakalinova syndrome, Hydrolethalus syndrome, Joubert syndrome
L1CAMCRASH 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
LAMA2Muscular dystrophy, congenital merosin-deficient, Schizophrenia
LARGEMuscular dystrophy-dystroglycanopathy
MED12FG syndrome, Lujan-Fryns syndrome, Mental retardation, with Marfanoid habitus, Ohdo syndrome, Opitz-Kaveggia syndrome
MEF2CMental retardation
NDE1Lissencephaly, Microhydranencephaly
NSDHLCK syndrome, Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome)
PAFAH1B1Lissencephaly, Subcortical laminar heterotopia
PIK3CACLOVES, Cowden syndrome
POMGNT1Muscular dystrophy-dystroglycanopathy
POMT1Muscular dystrophy-dystroglycanopathy
POMT2Muscular dystrophy-dystroglycanopathy
RAB3GAP1Warburg micro syndrome
RAB3GAP2Martsolf syndrome, Warburg micro syndrome
RELNEpilepsy, familial temporal lobe, Lissencephaly
SLC12A6Agenesis of the corpus callosum with peripheral neuropathy (Andermann syndrome)
SRPX2Rolandic epilepsy, mental retardation, and speech dyspraxia
TMEM5Muscular dystrophy-dystroglycanopathy
TUBA1ALissencephaly
TUBA8Polymicrogyria with optic nerve hypoplasia
TUBB2BPolymicrogyria, asymmetric
TUBB3Cortical dysplasia, complex, with other brain malformations, Fibrosis of extraocular muscles, congenital
VLDLRCerebellar ataxia, mental retardation, and dysequilibrium syndrome
WDR62Microcephaly
YWHAE17p13.3 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
CHRNA1Myasthenic syndrome, congenital
CHRNDMyasthenic syndrome
CHRNEMyasthenic syndrome
CHRNGEscobar syndrome, Multiple pterygium syndrome
COLQMyasthenic syndrome, congenital
DOK7Myasthenic syndrome, congenital
GLE1Arthrogryposis, lethal, with anterior horn cell disease, Lethal congenital contracture syndrome
KLHL40Nemaline myopathy
MUSKMyasthenic syndrome, congenital
RAPSNMyasthenic syndrome, congenital

 

Clasificación de Variantes

 

EXOMA

 

MICROARRAYS

Clasificación de Variantes

Al realizar un diagnóstico genético, la clasificación de variantes es la base a partir de la cual se toman las decisiones médicas. Específicamente, es importante conocer si una variante es patogénica o casi patogénica porque influye en el cuidado y tratamiento adecuados.

 

Breve guía para entender la clasificación de variantes.

 

Variante patogénica.

La variante es considerada la causa de la enfermedad.

 

Variante casi patogénica.

La variante identificada es considerada una probable causa de la enfermedad. La información debe ser usada con precaución al momento de tomar decisiones médicas dado que existe un grado de incertidumbre.

 

Variante de significado incierto.

La variante podría ser una mutación independiente causante de la enfermedad pero la evidencia existente es insuficiente y contradictoria.

 

Variante casi benigna.

La variante probablemente no sea la causa de la enfermedad estudiada.

 

Variante benigna.

La variante no es considerada la causa de la enfermedad estudiada.

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