GeneAssociated phenotypesInheritanceClinVarHGMD
ATRCutaneous telangiectasia and cancer syndrome, Seckel syndromeAD/AR1033
BCS1LBjornstad syndrome, GRACILE syndrome, Leigh syndrome, Mitochondrial complex III deficiency, nuclear type 1AR4237
CCDC8Three M syndrome 3AR23
CDC45Meier-Gorlin syndrome 7AR1019
CDC6Meier-Gorlin syndrome (Ear-patella-short stature syndrome)AR22
CDT1Meier-Gorlin syndrome (Ear-patella-short stature syndrome)AR612
CENPJSeckel syndrome, MicrocephalyAR349
CEP152Seckel syndrome, MicrocephalyAR2020
CEP63Seckel syndromeAR72
CUL73-M syndrome, Yakut short stature syndromeAR2683
LARP7Alazami syndromeAR1910
NOTCH2*Alagille syndrome, Hajdu-Cheney syndromeAD3770
OBSL13-M syndromeAR1333
ORC1Meier-Gorlin syndrome (Ear-patella-short stature syndrome)AR910
ORC4Meier-Gorlin syndrome (Ear-patella-short stature syndrome)AR246
ORC6Meier-Gorlin syndrome (Ear-patella-short stature syndrome)AR76
PCNTMicrocephalic osteodysplastic primordial dwarfismAR4988
POC1AShort stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT syndrome)AR48
RBBP8Seckel syndrome, Jawad syndromeAR66
RNU4ATACRoifman syndrome, Microcephalic osteodysplastic primordial dwarfism type 1, Microcephalic osteodysplastic primordial dwarfism type 3AR1524
RTTNMicrocephaly, short stature, and polymicrogyria with or without seizuresAR1616
SRCAPFloating-Harbor syndromeAD1643
TRIM37Mulibrey nanismAR1923
XRCC4Short stature, microcephaly, and endocrine dysfunctionAR910
GeneAssociated phenotypesInheritanceClinVarHGMD
ARHGAP31Adams-Oliver syndromeAD36
DLL4Adams-Oliver syndromeAD1314
DOCK6Adams-Oliver syndromeAR2121
EOGTAdams-Oliver syndromeAR85
KCTD1*Scalp-ear-nipple syndromeAD1111
NOTCH1Aortic valve disease, Adams-Oliver syndromeAD5696
RBPJ*Adams-Oliver syndromeAD76
UBR1Johanson-Blizzard syndromeAR1171
GeneAssociated phenotypesInheritanceClinVarHGMD
AMELXAmelogenesis imperfecta, type 1EXL1227
C4ORF26AR56
DLX3Amelogenesis imperfecta, Trichodontoosseous syndromeAD511
DSPPDentin dysplasia, Dentinogenesis imperfecta, Deafness, with dentinogenesis imperfectaAD1153
ENAMAmelogenesis imperfectaAD/AR818
FAM20AAmelogenesis imperfecta (Enamel-renal syndrome)AR1941
FAM83HAmelogenesis imperfectaAD1432
GPR68Amelogenesis imperfecta, hypomaturation type, IIA6AR33
ITGB6Amelogenesis imperfecta, type IHAR57
KLK4Amelogenesis imperfecta, type IIA1AR35
LAMB3Amelogenesis imperfecta, Epidermolysis bullosa, junctional, Herlitz, Epidermolysis bullosa, junctional, non-HerlitzAD/AR84118
LTBP3Dental anomalies and short stature, Geleophysic dysplasia 3AD/AR1511
MMP20Amelogenesis imperfecta, hypomaturation type, IIA2AR410
SLC24A4Ameliogenesis imperfecta, hypomaturation type, IIA5AR35
WDR72#Amelogenesis imperfecta, hypomaturation type, IIA3AR1010
WNT10BTooth agenesis, selective, 8, Split-hand/foot malformation 6AR719
GeneAssociated phenotypesInheritanceClinVarHGMD
ACTA1MyopathyAD/AR68212
ADGRG6Lethal congenital contracture syndrome 9AR44
AGRNMyasthenic syndrome, congenitalAR1416
BIN1Myopathy, centronuclearAD/AR915
CACNA1EEpileptic encephalopathyAD86
CASKMental retardation and microcephaly with pontine and cerebellar hypoplasia, FG syndrome, Mental retardationXL87112
CFL2Nemaline myopathyAR29
CHATMyasthenic syndrome, congenitalAR2473
CHRNA1Myasthenic syndrome, congenitalAD/AR2835
CHRNB1Myasthenic syndromeAD/AR1111
CHRNDMyasthenic syndromeAD/AR1826
CHRNEMyasthenic syndromeAD/AR48134
CHRNGMultiple pterygium syndrome, Escobar syndromeAR1734
CHST14Ehlers-Danlos syndrome, musculocontracturalAR1521
CHUKCocoon syndromeAR25
CNTNAP1Lethal congenital contracture syndrome 7AR1021
COL6A2Epilepsy, progressive myoclonic, Bethlem myopathy, Myosclerosis, congenital, Ullrich congenital muscular dystrophyAD/AR101182
COLQMyasthenic syndrome, congenitalAR2367
DHCR24DesmosterolosisAR69
DOK7Myasthenic syndrome, congenitalAR2875
DPAGT1Congenital disorder of glycosylation, Myasthenic syndrome, congenitalAR1632
ECEL1ArthrogryposisAR2531
EGR2Neuropathy, Dejerine-Sottas disease, Charcot-Marie-Tooth diseaseAD/AR1321
ERBB3Lethal congenital contractural syndrome 2AR114
ERCC5Xeroderma pigmentosum, Xeroderma pigmentosum/Cockayne syndromeAR2154
ERCC6*Xeroderma Pigmentosum-Cockayne Syndrome, De Sanctis-Cacchione syndromeAD/AR87135
EXOSC3Pontocerebellar hypoplasiaAR1119
FBN2Congenital contractural arachnodactyly (Beals syndrome)AD5097
FHL1*Myopathy with postural muscle atrophy, Emery-Dreifuss muscular dystrophy, Reducing bod myopathyXL2662
FKBP10Bruck syndrome 1, Osteogenesis imperfecta, type XIAR2044
FKTNMuscular dystrophy-dystroglycanopathy, Dilated cardiomyopathy (DCM), Muscular dystrophy-dystroglycanopathy (limb-girdle)AD/AR4558
FLVCR2Proliferative vasculopathy and hydraencephaly-hydrocephaly syndromeAR917
GBA*Gaucher diseaseAR84488
GBE1Glycogen storage diseaseAR3670
GFPT1Myasthenic syndrome, congenitalAR1342
GLDNLethal congenital contracture syndrome 11AR1111
GLE1Lethal congenital contracture syndrome, Arthrogryposis, lethal, with anterior horn cell diseaseAR717
KAT6BOhdo syndrome, SBBYS variant, Genitopatellar syndromeAD4773
KIAA1109Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndromeAR716
KLHL40Nemaline myopathyAR1126
LGI4Arthrogryposis multiplex congenita, neurogenic, with myelin defectAR97
LMNAHeart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Muscular dystrophy, congenital, LMNA-related, Lipodystrophy (Dunnigan), Emery-Dreiffus muscular dystrophy, Malouf syndrome, Dilated cardiomyopathy (DCM), Mandibuloacral dysplasia type A, Progeria Hutchinson-Gilford typeAD/AR250564
MPZNeuropathy, Roussy-Levy syndrome, Dejerine-Sottas disease, Charcot-Marie-Tooth diseaseAD108241
MTM1Myopathy, centronuclearXL158301
MUSKMyasthenic syndrome, congenitalAR1722
MYBPC1Arthrogryposis, Lethal congenital contractural syndromeAD/AR77
MYH2Inclusion body myopathyAD2424
MYH3ArthrogryposisAD2145
MYH8Carney complex variant, Arthrogryposis, distal, type 7, Trismus-pseudocamptodactyly syndromeAD12
NALCNNeuroaxonal neurodegeneration, infantile, with facial dysmophism, Congenital contractures of the limbs and face, hypotonia, and developmental delayAD/AR4750
NEB#*Nemaline myopathyAR305309
PIEZO2*Marden-Walker syndrome, Distal arthrogryposisAD3028
PLOD2Bruck syndrome, Osteogenesis imperfecta type 3AR823
PMM2Congenital disorder of glycosylationAR76128
PPP3CAEpilepitic encephalopathyAD811
RAPSNMyasthenic syndrome, congenitalAR2658
RARS2Pontocerebellar hypoplasiaAR2337
RIPK4Popliteal pterygium syndrome, lethal type, Bartsocas-Papas syndromeAR415
SCO2Leigh syndrome, Hypertrophic cardiomyopathy (HCM), Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, MyopiaAR4237
SELENON#Muscular dystrophy, rigid spine, Myopathy, congenital, with fiber- disproportionAR3863
SMN1#*Spinal muscular atrophyAR29111
SMN2#*Spinal muscular atrophyAD19
TGFB3Loeys-Dietz syndrome (Reinhoff syndrome), Arrhythmogenic right ventricular dysplasiaAD1926
TK2#Mitochondrial DNA depletion syndromeAR3852
TNNI2Arthrogryposis multiplex congenitaAD511
TNNT1Nemaline myopathyAR68
TNNT3Arthyrgryposis, distal, type 2BAD34
TPM2CAP myopathy, Nemaline myopathy, Arthrogryposis, distalAD1838
TPM3*CAP myopathy, Nemaline myopathy, Myopathy, congenital, with fiber- disproportionAD2127
TRPV4Metatropic dysplasia, Spondyloepiphyseal dysplasia Maroteaux type, Parastremmatic dwarfism, Hereditary motor and sensory neuropathy, Spondylometaphyseal dysplasia Kozlowski type, Spinal muscular atrophy, Charcot-Marie-Tooth disease, Brachyolmia (autosomal dominant type), Familial Digital arthropathy with brachydactylyAD6178
TSEN2#Pontocerebellar hypoplasiaAR85
TSEN54Pontocerebellar hypoplasiaAR2321
UBA1Spinal muscular atrophy, infantileXL35
VIPAS39Arthrogryposis, renal dysfunction, and cholestasis 2AR813
VPS33BArthrogryposis – renal dysfunction – cholestasisAD/AR1758
VRK1Pontocerebellar hypoplasiaAR99
ZBTB42Lethal congenital contracture syndromeAR21
ZC4H2Wieacker-Wolff syndromeXL2016
GeneAssociated phenotypesInheritanceClinVarHGMD
BMP2Brachydactyly type A2AD528
BMPR1BAcromesomelic dysplasia, Demirhan, Brachydactyly C/Symphalangism-like pheno, Brachydactyly type A2, Pulmonary arterial hypertension (PAH)AD/AR1223
CHSY1Temtamy preaxial brachydactyly syndromeAR616
DHCR7Smith-Lemli-Opitz syndromeAR88217
ESCO2SC phocomelia syndrome, Roberts syndromeAR3031
FAM58AToe syndactyly, telecanthus, and anogenital and renal malformations (STAR syndrome)XL811
GDF5Multiple synostoses syndrome, Fibular hypoplasia and complex brachydactyly, Acromesomelic dysplasia, Hunter-Thompson, Symphalangism, proximal, Chondrodysplasia, Brachydactyly type A2, Brachydactyly type C, Grebe dysplasiaAD/AR2353
GNASMcCune-Albright syndrome, Progressive osseous heteroplasia, Pseudohypoparathyroidism, Albright hereditary osteodystrophyAD64274
HOXA13#Hand-foot-uterus syndrome, Hand-foot-genital syndrome, Guttmacher syndromeAD827
HOXD13Brachydactyly-syndactyly syndrome, Synopolydactyly, Syndactyly, Synopolydactyly with clefting, Brachydactyly type DAD/AR1841
IHHAcrocapitofemoral dysplasia, Brachydactyly, Syndactyly type LuekenAD/AR1232
MYCNFeingold syndromeAD2741
NOGTarsal-carpal coalition syndrome, Multiple synostosis syndrome, Stapes ankylosis with broad thumb and toes (Teunissen-Cremers syndrome), Symphalangism, proximal, Brachydactyly type B2AD2063
PDE3AHypertension with brachydactylyAD710
PDE4DAcrodysostosis 2, with or without hormone resistanceAD1538
PTDSS1Lenz-Majewski hyperostotic dwarfismAD57
PTHLHBrachydactyly, type E2AD518
RECQL4Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndromeAR82114
ROR2Robinow syndrome recessive type, Brachydactyly type BAD/AR2140
SOX9Campomelic dysplasia, 46,XY sex reversal, Brachydactyly with anonychia (Cooks syndrome)AD47144
TP63Rapp-Hodgkin syndrome, Orofacial cleft, ADULT syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate, Split-hand/foot malformation, Limb-mammary syndromeAD59122
GeneAssociated phenotypesInheritanceClinVarHGMD
CCM2Cerebral cavernous malformationsAD2985
KRIT1Cerebral cavernous malformationsAD80264
PDCD10Cerebral cavernous malformationsAD2276
RASA1Parkes Weber syndrome, Capillary malformation-arteriovenous malformation, Spinal arteriovenous anomaliesAD55132
GeneAssociated phenotypesInheritanceClinVarHGMD
AGPSRhizomelic chondrodysplasia punctata type 3AR48
ARSE*Chondrodysplasia punctata X-linked recessive, brachytelephalangic type (CDPX1)XL2246
EBPChondrodysplasia punctata, Male EBP disorder with neurologic defects (MEND)XL4390
GNPATRhizomelic chondrodysplasia punctata, rhizomelicAR814
LBRPelger-Huet anomaly, Reynolds syndrome, Greenberg/HEM skeletal dysplasia, Hydrops-ectopic calcification-moth-eaten skeletal dysplasiaAD/AR2224
NSDHLCongenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome), CK syndromeXL1528
PEX14Peroxisome biogenesis factor disorder 14, Zellweger syndromeAR54
PEX19Peroxisome biogenesis disorder, 19, Zellweger syndromeAR34
PEX7Refsum disease, Rhizomelic CDP type 1AR4453
GeneAssociated phenotypesInheritanceClinVarHGMD
ARHGAP29AD319
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler syndrome type 2AD/AR3494
COL11A2Weissenbacher-Zweymuller syndrome, Deafness, Otospondylomegaepiphyseal dysplasia, Fibrochondrogenesis, Stickler syndrome type 3 (non-ocular)AD/AR2957
COL2A1Avascular necrosis of femoral head, Rhegmatogenous retinal detachment, Epiphyseal dysplasia, with myopia and deafness, Czech dysplasia, Achondrogenesis type 2, Platyspondylic dysplasia Torrance type, Hypochondrogenesis, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Kniest dysplasia, Spondyloperipheral dysplasia, Mild SED with premature onset arthrosis, SED with metatarsal shortening, Stickler syndrome type 1AD180561
COL9A1Stickler syndrome recessive type, Multiple epiphyseal dysplasia type 6 (EDM6)AR96
COL9A2Stickler syndrome, Multiple epiphyseal dysplasia type 2 (EDM2)AD/AR712
COL9A3Multiple epihyseal dysplasia type 3 (EDM3), Stickler syndrome recessive typeAD/AR1014
CTNND1*Blepharocheilodontic syndrome 2, Cleft lipAD416
FOXE1Thyroid cancer, nonmedullary 4, Hypothyroidism, thyroidal, with spiky hair and cleft palate (Bamforth-Lazarus syndrome), Congenital hypothyroidismAD/AR423
GRHL3van der Woude syndrome 2AD1227
IRF6Orofacial cleft, Popliteal pterygium syndrome, van der Woude syndromeAD45338
KDM6AKabuki syndromeXL4069
KMT2DKabuki syndromeAD350670
MSX1Orofacial cleft 5, Tooth agenesis, selective, 1, with/without orofacial cleft, Witkop syndromeAD1148
SATB2Glass syndromeAD62106
SPECC1L*Facial clefting, oblique, 1, Opitz GBBB syndrome, type IIAD78
TBX2AD112
TBX22Cleft palate with or without ankyloglossiaXL1229
TGDSCatel-Manzke syndromeAR67
TP63Rapp-Hodgkin syndrome, Orofacial cleft, ADULT syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate, Split-hand/foot malformation, Limb-mammary syndromeAD59122
TXNL4ABurn-McKeown syndromeAR1913
ZSWIM6Acromelic frontonasal dysostosisAD42
GeneAssociated phenotypesInheritanceClinVarHGMD
ACAN#Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type, Osteochondritis dissecans, short stature, and early-onset osteoarthritisAD/AR2056
ACP5Spondyloenchondrodysplasia with immune dysregulationAR1226
ACTB*Baraitser-Winter syndromeAD5560
ACTG1*Deafness, Baraitser-Winter syndromeAD2747
ACVR1Fibrodysplasia ossificans progressivaAD1419
ADAMTS10Weill-Marchesani syndromeAR814
ADAMTS17Weill-Marchesani-like syndromeAR67
ADAMTSL2#*Geleophysic dysplasia 3AR828
AGPSRhizomelic chondrodysplasia punctata type 3AR48
AIFM1Deafness, Combined oxidative phosphorylation deficiency 6, Cowchock syndromeXL2731
AKT1Proteus syndrome, Cowden syndromeAD56
ALPLOdontohypophosphatasia, Hypophosphatasia perinatal lethal, infantile, juvenile and adult formsAD/AR78291
ALX3Frontonasal dysplasia type 1AR88
ALX4Frontonasal dysplasia type 2, Parietal foraminaAD/AR1524
AMER1Osteopathia striata with cranial sclerosisXL1440
AMMECR1Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosisXL45
ANKHCalcium pyrophosphate deposition disease (familial chondrocalcinosis type 2), Craniometaphyseal dysplasia autosomal dominant typeAD1320
ANKRD11*KBG syndromeAD142132
ANO5Gnathodiaphyseal dysplasia, LGMD2L and distal MMD3 muscular dystrophiesAD/AR64121
ARCN1Rhizomelic short stature with microcephaly, micrognathia, and developmental delay (SRMMD)AD33
ARHGAP31Adams-Oliver syndromeAD36
ARID1ACoffin-Siris syndrome, Mental retardationAD2735
ARID1BCoffin-Siris syndrome, Mental retardationAD153185
ARSBMucopolysaccharidosis (Maroteaux-Lamy)AR118201
ARSE*Chondrodysplasia punctata X-linked recessive, brachytelephalangic type (CDPX1)XL2246
ATP6V0A2Cutis laxa, Wrinkly skin syndromeAR1656
ATRCutaneous telangiectasia and cancer syndrome, Seckel syndromeAD/AR1033
B3GALT6#Spondyloepimetaphyseal dysplasia with joint laxity, Ehlers-Danlos syndromeAR1727
B3GAT3#*Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defectsAR613
B4GALT7Ehlers-Danlos syndrome, progeroid formAR89
BCS1LBjornstad syndrome, GRACILE syndrome, Leigh syndrome, Mitochondrial complex III deficiency, nuclear type 1AR4237
BGNSpondyloepimetaphyseal dysplasia, X-linked, Meester-Loeys syndromeXL87
BHLHA9Syndactyly Malik-Percin type, mesoaxial synostotic, with phalangeal reduction, Split hand-foot malformation with long bone deficiency (SHFLD3), Gollop-WolfgangAR443
BMP1Osteogenesis imperfectaAR721
BMP2Brachydactyly type A2AD528
BMPERDiaphanospondylodysostosisAR619
BMPR1BAcromesomelic dysplasia, Demirhan, Brachydactyly C/Symphalangism-like pheno, Brachydactyly type A2, Pulmonary arterial hypertension (PAH)AD/AR1223
BRAF*LEOPARD syndrome, Noonan syndrome, Cardiofaciocutaneous syndromeAD13465
BRCA2Fanconi anemia, Medulloblastoma, Glioma susceptibility, Pancreatic cancer, Wilms tumor, Breast-ovarian cancer, familialAD/AR33692659
BRIP1Fanconi anemia, Breast cancerAD/AR238189
CA2Osteopetrosis, with renal tubular acidosisAR931
CANT1Desbuquois dysplasiaAR2028
CASRHypocalcemia, Neonatal hyperparathyroidism, Familial Hypocalciuric hypercalcemia with transient Neonatal hyperparathyroidismAD/AR104396
CBLNoonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaAD2443
CCDC47Microcephaly, MalformationsAR1
CCDC8Three M syndrome 3AR23
CDC42*Takenouchi-Kosaki syndrome, Noonan-syndrome like phenotypeAD119
CDC45Meier-Gorlin syndrome 7AR1019
CDC6Meier-Gorlin syndrome (Ear-patella-short stature syndrome)AR22
CDH11AR38
CDKN1CBeckwith-Wiedemann syndrome, IMAGE syndromeAD3581
CDT1Meier-Gorlin syndrome (Ear-patella-short stature syndrome)AR612
CENPJSeckel syndrome, MicrocephalyAR349
CEP152Seckel syndrome, MicrocephalyAR2020
CEP63Seckel syndromeAR72
CHST14Ehlers-Danlos syndrome, musculocontracturalAR1521
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome)AR1837
CHSY1Temtamy preaxial brachydactyly syndromeAR616
CKAP2LFilippi syndromeAR77
CLCN5Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, Hypophosphatemic rickets,, Nephrolithiasis, I, Dent diseaseXL48272
CLCN7OsteopetrosisAD/AR1598
COL10A1Metaphyseal chondrodysplasia, SchmidAD2153
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler syndrome type 2AD/AR3494
COL11A2Weissenbacher-Zweymuller syndrome, Deafness, Otospondylomegaepiphyseal dysplasia, Fibrochondrogenesis, Stickler syndrome type 3 (non-ocular)AD/AR2957
COL1A1Ehlers-Danlos syndrome, Caffey disease, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4AD352962
COL1A2Ehlers-Danlos syndrome, cardiac valvular form, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4AD/AR186509
COL27A1Steel syndromeAR77
COL2A1Avascular necrosis of femoral head, Rhegmatogenous retinal detachment, Epiphyseal dysplasia, with myopia and deafness, Czech dysplasia, Achondrogenesis type 2, Platyspondylic dysplasia Torrance type, Hypochondrogenesis, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Kniest dysplasia, Spondyloperipheral dysplasia, Mild SED with premature onset arthrosis, SED with metatarsal shortening, Stickler syndrome type 1AD180561
COL3A1Ehlers-Danlos syndromeAD520631
COL5A1Ehlers-Danlos syndromeAD101154
COL5A2Ehlers-Danlos syndromeAD2435
COL9A1Stickler syndrome recessive type, Multiple epiphyseal dysplasia type 6 (EDM6)AR96
COL9A2Stickler syndrome, Multiple epiphyseal dysplasia type 2 (EDM2)AD/AR712
COL9A3Multiple epihyseal dysplasia type 3 (EDM3), Stickler syndrome recessive typeAD/AR1014
COMPPseudoachondroplasia, Multiple ephiphyseal dysplasiaAD43186
CREB3L1Osteogenesis imperfecta, type XVIAR23
CREBBPRubinstein-Taybi syndromeAD175362
CRLF1Crisponi syndrome, Cold-induced sweating syndrome, type 1AR2137
CRTAPOsteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4AR1230
CSPP1Jeune asphyxiating thoracic dystrophy, Joubert syndromeAR3227
CTSKPycnodysostosisAR3558
CUL73-M syndrome, Yakut short stature syndromeAR2683
CYP27B1Vitamin D-dependent ricketsAR2373
DDR2Spondylometaepiphyseal dysplasia, short limb-hand typeAR119
DHCR24DesmosterolosisAR69
DHCR7Smith-Lemli-Opitz syndromeAR88217
DHODHPostaxial acrofacial dysostosis (Miller syndrome)AR820
DLL3Spondylocostal dysostosisAR1226
DLL4Adams-Oliver syndromeAD1314
DLX3Amelogenesis imperfecta, Trichodontoosseous syndromeAD511
DLX5Split-hand/foot malformation with sensorineural hearing lossAR39
DMP1Hypophosphatemic ricketsAR510
DOCK6Adams-Oliver syndromeAR2121
DONSONMicrocephaly, short stature, and limb abnormalities (MISSLA), Microcephaly-Micromelia syndrome1019
DVL1Robinow syndromeAD1719
DYMDyggve-Melchior-Clausen dysplasia, Smith-McCort dysplasiaAR2234
DYNC2H1Short -rib thoracic dysplasia with or without polydactyly type 1, Short -rib thoracic dysplasia with or without polydactyly type 3, Asphyxiating thoracic dysplasia (ATD; Jeune), SRPS type 2 (Majewski)AR/Digenic148205
EBPChondrodysplasia punctata, Male EBP disorder with neurologic defects (MEND)XL4390
EFNB1Craniofrontonasal dysplasiaXL28116
EFTUD2Mandibulofacial dysostosis with microcephaly, Esophageal atresia, syndromicAD4599
EIF2AK3SED, Wolcott-Rallison typeAR980
ENAMAmelogenesis imperfectaAD/AR818
ENPP1Arterial calcification, Hypophosphatemic ricketsAD/AR2272
EOGTAdams-Oliver syndromeAR85
EP300Rubinstein-Taybi syndromeAD63101
ERCC4Fanconi anemia, Xeroderma pigmentosum, XFE progeroid syndromeAR1370
ESCO2SC phocomelia syndrome, Roberts syndromeAR3031
EVCWeyers acrofacial dysostosis, Ellis-van Creveld syndromeAD/AR5883
EVC2Ellis-van Creveld syndrome, Weyers acrodental dysostosisAD/AR7875
EXT1Multiple cartilagenious exostoses 1AD97523
EXT2Multiple cartilagenious exostoses 2AD45250
EXTL3Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA)AR48
EZH2Weaver syndromeAD2941
FAM111AKenny-Caffey syndrome, type 2AD59
FAM20AAmelogenesis imperfecta (Enamel-renal syndrome)AR1941
FAM20CHypophosphatemia, hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis (Raine syndrome)AR1325
FAM46AOsteogenesis imperfectaAR33
FAM58AToe syndactyly, telecanthus, and anogenital and renal malformations (STAR syndrome)XL811
FAM83HAmelogenesis imperfectaAD1432
FANCAFanconi anemiaAR191677
FANCBFanconi anemiaXL1121
FANCCFanconi anemiaAR9464
FANCD2*Fanconi anemiaAR2161
FANCEFanconi anemiaAR417
FANCFFanconia anemiaAR716
FANCGFanconi anemiaAR1692
FANCIFanconi anemiaAR1345
FANCLFanconi anemiaAR1324
FANCMFanconi anemiaAR650
FBN1MASS syndrome, Marfan syndrome, Acromicric dysplasia, Geleophysic dysplasia 3AD14652679
FBN2Congenital contractural arachnodactyly (Beals syndrome)AD5097
FGD1Aarskog-Scott syndrome, Mental retardation, syndromicXL2951
FGF10Aplasia of lacrimal and salivary glandsAD1513
FGF23Tumoral calcinosis, hyperphosphatemic, Hypophosphatemic ricketsAD/AR1017
FGFR1Pfeiffer syndrome, Trigonocephaly, Hypogonadotropic hypogonadism, Osteoglophonic Dwarfism – Craniostenosis, Hartsfield syndromeAD/Digenic/Multigenic72257
FGFR2Apert syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome, Lacrimoauriculodentodigital syndrome, Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial-skeletal-dermatological dysplasia, Crouzon syndrome, Bent bone dysplasiaAD100154
FGFR3Lacrimoauriculodentodigital syndrome, Muenke syndrome, Crouzon syndrome with acanthosis nigricans, Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome, Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 2, SADDANAD/AR5477
FKBP10Bruck syndrome 1, Osteogenesis imperfecta, type XIAR2044
FLNAFrontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defectsXL133257
FLNBLarsen syndrome (dominant), Atelosteogenesis type 1, Atelosteogenesis type 3, Spondylo-carpal-tarsal dyspasiaAD/AR43121
FN1Glomerulopathy with fibronectin deposits 2AD1425
GALNT3Tumoral calcinosis, hyperphosphatemicAR1735
GDF5Multiple synostoses syndrome, Fibular hypoplasia and complex brachydactyly, Acromesomelic dysplasia, Hunter-Thompson, Symphalangism, proximal, Chondrodysplasia, Brachydactyly type A2, Brachydactyly type C, Grebe dysplasiaAD/AR2353
GH1*Isolated growth hormone deficiency, Kowarski syndromeAD/AR2590
GHRGrowth hormone insensitivity syndrome (Laron syndrome)AD/AR35115
GHRHRIsolated growth hormone deficiencyAR1351
GHSRShort statureAD/AR212
GJA1*Oculodentodigital dysplasia mild type, Oculodentodigital dysplasia severe type, Syndactyly type 3AD/AR31107
GLI2Culler-Jones syndromeAD2982
GLI3Acrocallosal syndrome, Pallister-Hall syndrome, Grieg cephalopolysndactyly syndrome, Postaxial polydactyly type A, Preaxial polydactyly type 3, Preaxial polydactyly type 4AD70235
GNASMcCune-Albright syndrome, Progressive osseous heteroplasia, Pseudohypoparathyroidism, Albright hereditary osteodystrophyAD64274
GNPATRhizomelic chondrodysplasia punctata, rhizomelicAR814
GPC6Omodysplasia 1AR139
HDAC8Cornelia de Lange syndromeXL4150
HESX1Septooptic dysplasia, Pituitary hormone deficiency, combinedAR/AD1526
HOXA13#Hand-foot-uterus syndrome, Hand-foot-genital syndrome, Guttmacher syndromeAD827
HOXD13Brachydactyly-syndactyly syndrome, Synopolydactyly, Syndactyly, Synopolydactyly with clefting, Brachydactyly type DAD/AR1841
HRASCostello syndrome, Congenital myopathy with excess of muscle spindlesAD4331
HSPG2Schwartz-Jampel syndrome, Dyssegmental dysplasia Silverman-Handmaker type, Dyssegmental dysplasia Rolland-Desbuquis typeAD/AR1660
IDS*MucopolysaccharidosisXL85637
IDUAMucopolysaccharidosisAR105282
IFITM5Osteogenesis imperfecta type 5AD22
IFT122*Sensenbrenner syndrome, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2AR1323
IFT140Short -rib thoracic dysplasia with or without polydactyly, Asphyxiating thoracic dysplasia (ATD; Jeune)AR3863
IFT172Retinitis pigmentosa, Short -rib thoracic dysplasia with or without polydactyly, Asphyxiating thoracic dysplasia (ATD; Jeune)AR2225
IFT43Cranioectodermal dysplasia 3AR47
IFT52Short-rib thoracic dysplasia 16 with or without polydactylyAR34
IFT80Short -rib thoracic dysplasia with or without polydactyly, Asphyxiating thoracic dysplasia (ATD; Jeune)AR1111
IGF1Insulin-like growth factor I deficiencyAR48
IGF1RInsulin-like growth factor I, resistanceAD/AR1264
IGFALSInsulin-like growth factor-binding protein, acid-labile subunit, deficiencyAR534
IHHAcrocapitofemoral dysplasia, Brachydactyly, Syndactyly type LuekenAD/AR1232
IMPAD1Chondrodysplasia with joint dislocations, GPAPP typeAR55
INPPL1OpsismodysplasiaAR1632
INSRHyperinsulinemic hypoglycemia, familial, Rabson-Mendenhall syndrome, Donohoe syndromeAD/AR44190
IRS1Diabetes mellitus, noninsulin-dependentAD/AR317
KAT6BOhdo syndrome, SBBYS variant, Genitopatellar syndromeAD4773
KIF22Spondyloepimetaphyseal dysplasia with joint laxity, type 2AD44
KIF7Acrocallosal syndrome, Hydrolethalus syndrome, Al-Gazali-Bakalinova syndrome, Joubert syndromeAR/Digenic2444
KMT2AWiedemann-Steiner syndromeAD117114
KRAS*Noonan syndrome, Cardiofaciocutaneous syndromeAD6335
KYNUHydroxykynureninuria, Vertebral, cardiac, renal, and limb defects syndrome 2AR47
LARP7Alazami syndromeAR1910
LBRPelger-Huet anomaly, Reynolds syndrome, Greenberg/HEM skeletal dysplasia, Hydrops-ectopic calcification-moth-eaten skeletal dysplasiaAD/AR2224
LEMD3Buschke-Ollendorff syndrome, OsteopoikilosisAD1332
LFNG#Spondylocostal dysostosis, autosomal recessive 3AR15
LHX3Pituitary hormone deficiency, combinedAR916
LHX4Pituitary hormone deficiency, combinedAD1023
LIFRStuve-Wiedemann dysplasia, Schwartz-Jampel type 2 syndromeAR1232
LMNAHeart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Muscular dystrophy, congenital, LMNA-related, Lipodystrophy (Dunnigan), Emery-Dreiffus muscular dystrophy, Malouf syndrome, Dilated cardiomyopathy (DCM), Mandibuloacral dysplasia type A, Progeria Hutchinson-Gilford typeAD/AR250564
LMX1BNail-patella syndromeAD26194
LONP1Cerebral, Ocular, Dental, Auricular, and Skeletal anomalies (CODAS) syndromeAR918
LRP4Cenani-Lenz syndactyly syndrome, Sclerosteosis, Myasthenic syndrome, congenitalAD/AR1428
LRP5*Van Buchem disease, Osteoporosis-pseudoglioma syndrome, Hyperostosis, endosteal, Osteosclerosis, Exudative vitreoretinopathy, Osteopetrosis late-onset form type 1, LRP5 primary osteoporosisAD/AR/Digenic57196
LTBP2Weill-Marchesani syndrome, Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Glaucoma, primary congenitalAR2127
LTBP3Dental anomalies and short stature, Geleophysic dysplasia 3AD/AR1511
LZTR1Schwannomatosis, Noonan syndromeAD/AR3471
MAFBMulticentric carpotarsal osteolysisAD1323
MAP2K1Cardiofaciocutaneous syndromeAD4523
MAP2K2Cardiofaciocutaneous syndromeAD2135
MAP3K7Frontometaphyseal dysplasia 2AD1212
MATN3Spondyloepimetaphyseal dysplasia Matrilin type, Multiple epiphyseal dysplasia type 5 (EDM5)AD/AR825
MBTPS2Keratosis follicularis spinulosa decalvans, IFAP syndrome, Palmoplantar keratoderma, mutilating, with periorificial keratotic plaquesXL1225
MESP2Spondylocostal dysostosis 2, autosomal recessiveAR186
MGPKeutel syndromeAR58
MMP13Metaphyseal anadysplasia 1, Metaphyseal dysplasia, Spahr type, Spondyloepimetaphyseal dysplasia, Missouri typeAD/AR77
MMP2Torg-Winchester syndrome, Multicentric osteolysis, nodulosis, and arthropathyAR822
MMP9Metaphyseal anadysplasiaAR17
MSX2*Parietal foramina, Parietal foramina with cleidocranial dysplasia, Craniosynostosis Boston typeAD925
MYCNFeingold syndromeAD2741
MYO18BKlippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphismAR24
NANSSpondyloepimetaphyseal dysplasiam Genevieve typeAR812
NEK1Short -rib thoracic dysplasia with or without polydactyly, SRPS type 2 (Majewski)AR/Digenic2223
NF1*Watson syndrome, Neurofibromatosis, Neurofibromatosis-Noonan syndromeAD11572901
NFIXMarshall-SmithsyndromeAD4978
NIPBLCornelia de Lange syndromeAD311425
NKX3-2Spondylo-megaepiphyseal-metaphyseal dysplasiaAR44
NOGTarsal-carpal coalition syndrome, Multiple synostosis syndrome, Stapes ankylosis with broad thumb and toes (Teunissen-Cremers syndrome), Symphalangism, proximal, Brachydactyly type B2AD2063
NOTCH1Aortic valve disease, Adams-Oliver syndromeAD5696
NOTCH2*Alagille syndrome, Hajdu-Cheney syndromeAD3770
NPR2Acromesomelic dysplasia type Maroteaux, Epiphyseal chondrodysplasia, Miura, Short stature with nonspecific skeletal abnormalitiesAD/AR3275
NRASNoonan syndromeAD3114
NSD1Sotos syndrome, Weaver syndrome, Beckwith-Wiedemann syndromeAD329517
NSDHLCongenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome), CK syndromeXL1528
OBSL13-M syndromeAR1333
ORC1Meier-Gorlin syndrome (Ear-patella-short stature syndrome)AR910
ORC4Meier-Gorlin syndrome (Ear-patella-short stature syndrome)AR246
ORC6Meier-Gorlin syndrome (Ear-patella-short stature syndrome)AR76
OSGEPGalloway-Mowat syndromeAR1117
OSTM1Osteopetrosis, autosomal recessive 5AR59
OTX2Microphthalmia, syndromic, Pituitary hormone deficiency, combined, Retinal dystrophy, early-onset, and pituitary dysfunctionAD2373
P3H1Osteogenesis imperfectaAR1863
PALB2Fanconi anemia, Pancreatic cancer, Breast cancerAD/AR495406
PAPSS2Brachyolmia 4 with mild epiphyseal and metaphyseal changes, SEMD PAPPS2 typeAR1320
PCNTMicrocephalic osteodysplastic primordial dwarfismAR4988
PCYT1ASpondylometaphyseal dysplasia with cone-rod dystrophyAR1220
PDE3AHypertension with brachydactylyAD710
PDE4DAcrodysostosis 2, with or without hormone resistanceAD1538
PEX14Peroxisome biogenesis factor disorder 14, Zellweger syndromeAR54
PEX19Peroxisome biogenesis disorder, 19, Zellweger syndromeAR34
PEX7Refsum disease, Rhizomelic CDP type 1AR4453
PGM3Immunodeficiency 23AR1415
PHEXHypophosphatemic ricketsXL263437
PIK3CA*Cowden syndrome, CLOVESAD8556
PISDAR
PITX1Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, Liebenberg syndromeAD316
PITX2Axenfeld-Rieger syndrome, Ring dermoid of cornea, Iridogoniodysgenesis, Peters anomalyAD23101
PLOD2Bruck syndrome, Osteogenesis imperfecta type 3AR823
PLS3Osteoporosis and osteoporotic fracturesXL117
POC1AShort stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT syndrome)AR48
POLA1Pigmentary disorder, reticulate, with systemic manifestations, X-linked21
POLR1C#Treacher Collins syndromeAR1721
POLR1DTreacher Collins syndromeAD/AR926
POP1Anauxetic dysplasia 2AR56
PORDisordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency, Antley-Bixler syndromeAR1470
POU1F1Pituitary hormone deficiency, combinedAR2041
PPIBOsteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4AR813
PPP3CAEpilepitic encephalopathyAD811
PRKAR1AMyxoma, intracardiac, Acrodysostosis, Pigmented nodular adrenocortical disease, Carney complexAD75183
PRMT7Short stature, brachydactyly, intellectual developmental disability, and seizures (SBIDDS)AR1011
PROP1Pituitary hormone deficiency, combinedAR3337
PTDSS1Lenz-Majewski hyperostotic dwarfismAD57
PTH1RMetaphyseal chondrodysplasia Jansen type, Failure of tooth eruption, Eiken dysplasia, Blomstrand dysplasiaAD/AR1343
PTHLHBrachydactyly, type E2AD518
PTPN11Noonan syndrome, MetachondromatosisAD135140
PUF60Short stature, MicrocephalyAD2430
PYCR1Cutis laxa AR type 2BAR1938
RAB33BDyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia 2AR67
RAD21*Cornelia de Lange syndrome 4AD1411
RAD51CFanconi anemia, Breast-ovarian cancer, familialAD/AR107125
RAF1LEOPARD syndrome, Noonan syndrome, Dilated cardiomyopathy (DCM)AD4553
RALA*Intellectual disabilityAD1
RASA2Noonan syndromeAD13
RBBP8Seckel syndrome, Jawad syndromeAR66
RBM8A*Thrombocytopenia – absent radiusAD/AR512
RBPJ*Adams-Oliver syndromeAD76
RECQL4Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndromeAR82114
RIT1Noonan syndromeAD2326
RMRPCartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis, Anauxetic dysplasiaAR87123
RNU4ATACRoifman syndrome, Microcephalic osteodysplastic primordial dwarfism type 1, Microcephalic osteodysplastic primordial dwarfism type 3AR1524
ROR2Robinow syndrome recessive type, Brachydactyly type BAD/AR2140
RRASNoonan-syndrome like phenotypeAD/AR2
RSPRY1Spondyloepimetaphyseal dysplasia, Faden-Alkuraya typeAR22
RTTNMicrocephaly, short stature, and polymicrogyria with or without seizuresAR1616
RUNX2Cleidocranial dysplasia, Metaphyseal dysplasia with maxillary hypoplasiaAD21216
SALL1*Townes-Brocks syndrome 1AD3187
SALL4Acro-renal-ocular syndrome, Duane-radial ray/Okohiro syndromeAD2156
SBDS*Aplastic anemia, Shwachman-Diamond syndrome, Severe spondylometaphyseal dysplasiaAD/AR1990
SEC24DCole-Carpenter syndrome 2AR412
SERPINF1Osteogenesis imperfecta, type VIAR941
SERPINH1Osteogenesis imperfecta type 3AR36
SETBP1Mental retardation, autosomal dominant 29, Schinzel-Giedion midface retraction syndromeAD2346
SF3B4Acrofacial dysostosis 1, NagerAD2738
SGMS2Osteoporosis and osteoporotic fractures, Skeletal dysplasia and disordersAD
SH3BP2CherubismAD916
SH3PXD2BFrank-ter Haar syndromeAR820
SHOC2Noonan-like syndrome with loose anagen hairAD24
SHOX#*Leri-Weill dyschondrosteosis, Langer mesomelic dysplasia, Short statureXL/PAR25431
SKIShprintzen-Goldberg syndromeAD2023
SLC26A2Diastrophic dysplasia, Atelosteogenesis type 2, De la Chapelle dysplasia, Recessive Multiple Epiphyseal dysplasia, Achondrogenesis type 1BAR7354
SLC29A3Histiocytosis-lymphadenopathy plus syndrome, DysosteosclerosisAR1725
SLC34A3Hypophosphatemic rickets with hypercalciuriaAR2238
SLC35D1Schneckenbecken dysplasiaAR77
SLC39A13Spondylodysplastic Ehlers-Danlos syndromeAR29
SLCO2A1Hypertrophic osteoarthropathyAD/AR1372
SLX4Fanconi anemiaAR1872
SMAD3Aneurysms-osteoarthritis syndrome, Loeys-Dietz syndromeAD4882
SMAD4Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Polyposis, juvenile intestinal, Myhre dysplasia, Hereditary hemorrhagic telangiectasiaAD179143
SMARCA2Nicolaides-Baraitser syndromeAD4173
SMARCAL1Schimke immunoosseous dysplasiaAR2088
SMARCE1Coffin-Siris syndromeAD1412
SMC1ACornelia de Lange syndromeXL7387
SMC3Cornelia de Lange syndromeAD2521
SNX10Osteopetrosis, autosomal recessive 8AR313
SOS1Noonan syndromeAD4471
SOSTCraniodiaphyseal dysplasia, autosomal dominant, Sclerosteosis 1, van Buchem diseaseAD/AR614
SOX11Mental retardation, autosomal dominant 27AD1114
SOX2*Microphthalmia, syndromicAD34104
SOX3PanhypopituitarismXL426
SOX9Campomelic dysplasia, 46,XY sex reversal, Brachydactyly with anonychia (Cooks syndrome)AD47144
SP7Osteogenesis imperfecta, type XIIAR23
SPARCKeratoconus, Osteogenesis imperfecta, type XVIIAR24
SRCAPFloating-Harbor syndromeAD1643
STAG2Congenital heart defects, dysmorphic facial features, and intellectual developmental disorderXL614
STAMBPMicrocephaly-capillary malformation syndromeAR1519
STAT5B*Growth hormone insensitivity with immunodeficiencyAR913
TALDO1Transaldolase deficiencyAR610
TBX15Cousin syndromeAR24
TBX19Adrenocorticotropic hormone deficiencyAR1227
TBX2AD112
TBX3Ulnar-Mammary syndromeAD620
TBX4Small patella syndromeAD858
TBX5Holt-Oram syndromeAD61127
TBX6Spondylocostal dysostosis 5AD/AR934
TCF12CraniosynostosisAD2356
TCIRG1Osteopetrosis, severe neonatal or infantile forms (OPTB1)AD/AR48130
TCOF1Treacher Collins syndromeAD50330
TCTEX1D2Short-rib thoracic dysplasia 17 with or without polydactyly, Jeune Asphyxiating Thoracic DystrophyAR46
TCTN3Orofaciodigital syndrome (Mohr-Majewski syndrome), Joubert syndromeAR912
TGFB1Diaphyseal dysplasia Camurati-EngelmannAD1523
TGFB2Loeys-Dietz syndromeAD3638
TGFB3Loeys-Dietz syndrome (Reinhoff syndrome), Arrhythmogenic right ventricular dysplasiaAD1926
TGFBR1Loeys-Dietz syndromeAD4069
TGFBR2Loeys-Dietz syndromeAD58139
TMEM38BOsteogenesis imperfecta, type XIVAR27
TNFRSF11AFamilial expansile osteolysis, Paget disease of bone, Osteopetrosis, severe neonatal or infantile forms (OPTB1)AD/AR824
TNFRSF11BPaget disease of bone, juvenileAR818
TNFSF11Osteopetrosis, autosomal recessive 2AR35
TONSLSpondyloepimetaphyseal dysplasiaAR4
TOP3A8
TP63Rapp-Hodgkin syndrome, Orofacial cleft, ADULT syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate, Split-hand/foot malformation, Limb-mammary syndromeAD59122
TRAPPC2*Spondyloepiphyseal dysplasia tardaXL1255
TRIM37Mulibrey nanismAR1923
TRIP11*Achondrogenesis, type IAAR1117
TRMT10AMicrocephaly, short stature, and impaired glucose metabolism 1AR27
TRPS1Trichorhinophalangeal syndrome type 1, Trichorhinophalangeal syndrome type 3AD66140
TRPV4Metatropic dysplasia, Spondyloepiphyseal dysplasia Maroteaux type, Parastremmatic dwarfism, Hereditary motor and sensory neuropathy, Spondylometaphyseal dysplasia Kozlowski type, Spinal muscular atrophy, Charcot-Marie-Tooth disease, Brachyolmia (autosomal dominant type), Familial Digital arthropathy with brachydactylyAD6178
TTC21BShort-rib thoracic dysplasia, Nephronophthisis, Asphyxiating thoracic dysplasia (ATD; Jeune)AR2363
TWIST1Saethre-Chotzen syndrome, Robinow-Sorauf syndrome, CraniosynostosisAD28205
TYROBPNasu-Hakola disease, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathyAR814
VDRVitamin D-dependent ricketsAD/AR1766
VIPAS39Arthrogryposis, renal dysfunction, and cholestasis 2AR813
WDR19Retinitis pigmentosa, Nephronophthisis, Short -rib thoracic dysplasia with or without polydactyly, Senior-Loken syndrome, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Asphyxiating thoracic dysplasia (ATD; Jeune)AR3343
WDR34Short -rib thoracic dysplasia with or without polydactyly, Asphyxiating thoracic dysplasia (ATD; Jeune)AR1821
WDR35Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Short rib-polydactyly syndrome type 5AR2831
WDR60Short-rib thoracic dysplasia 8 with or without polydactylyAR1213
WISP3Arthropathy, progressive pseudorheumatoid, of childhood, Spondyloepiphyseal dysplasia tarda with progressive arthropathyAR1669
WNT1Osteoprosis, autosomal dominant, Osteogenesis imperfecta, type XVAD/AR940
WNT5ARobinow syndromeAD711
WNT7AUlna and fibula, absence of, with severe limb deficiency (Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome), Fuhrmann syndromeAR611
XRCC2Hereditary breast cancerAD/AR1021
XRCC4Short stature, microcephaly, and endocrine dysfunctionAR910
XYLT1Desbuquois dysplasia 2AR1119
XYLT2Primrose syndromeAR210
GeneAssociated phenotypesInheritanceClinVarHGMD
ACTB*Baraitser-Winter syndromeAD5560
ACTG1*Deafness, Baraitser-Winter syndromeAD2747
AMMECR1Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosisXL45
ARCN1Rhizomelic short stature with microcephaly, micrognathia, and developmental delay (SRMMD)AD33
ATRCutaneous telangiectasia and cancer syndrome, Seckel syndromeAD/AR1033
B3GAT3#*Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defectsAR613
BCS1LBjornstad syndrome, GRACILE syndrome, Leigh syndrome, Mitochondrial complex III deficiency, nuclear type 1AR4237
BRAF*LEOPARD syndrome, Noonan syndrome, Cardiofaciocutaneous syndromeAD13465
CBLNoonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaAD2443
CCDC8Three M syndrome 3AR23
CDC45Meier-Gorlin syndrome 7AR1019
CDC6Meier-Gorlin syndrome (Ear-patella-short stature syndrome)AR22
CDT1Meier-Gorlin syndrome (Ear-patella-short stature syndrome)AR612
CENPJSeckel syndrome, MicrocephalyAR349
CEP152Seckel syndrome, MicrocephalyAR2020
CEP63Seckel syndromeAR72
COL27A1Steel syndromeAR77
CREBBPRubinstein-Taybi syndromeAD175362
CUL73-M syndrome, Yakut short stature syndromeAR2683
DHCR7Smith-Lemli-Opitz syndromeAR88217
DONSONMicrocephaly, short stature, and limb abnormalities (MISSLA), Microcephaly-Micromelia syndrome1019
EP300Rubinstein-Taybi syndromeAD63101
FGD1Aarskog-Scott syndrome, Mental retardation, syndromicXL2951
FGFR3Lacrimoauriculodentodigital syndrome, Muenke syndrome, Crouzon syndrome with acanthosis nigricans, Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome, Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 2, SADDANAD/AR5477
FN1Glomerulopathy with fibronectin deposits 2AD1425
GH1*Isolated growth hormone deficiency, Kowarski syndromeAD/AR2590
GHRGrowth hormone insensitivity syndrome (Laron syndrome)AD/AR35115
GHRHRIsolated growth hormone deficiencyAR1351
GHSRShort statureAD/AR212
GLI2Culler-Jones syndromeAD2982
GNASMcCune-Albright syndrome, Progressive osseous heteroplasia, Pseudohypoparathyroidism, Albright hereditary osteodystrophyAD64274
HDAC8Cornelia de Lange syndromeXL4150
HESX1Septooptic dysplasia, Pituitary hormone deficiency, combinedAR/AD1526
HRASCostello syndrome, Congenital myopathy with excess of muscle spindlesAD4331
IDUAMucopolysaccharidosisAR105282
IGF1Insulin-like growth factor I deficiencyAR48
IGF1RInsulin-like growth factor I, resistanceAD/AR1264
IGFALSInsulin-like growth factor-binding protein, acid-labile subunit, deficiencyAR534
INSRHyperinsulinemic hypoglycemia, familial, Rabson-Mendenhall syndrome, Donohoe syndromeAD/AR44190
IRS1Diabetes mellitus, noninsulin-dependentAD/AR317
KRAS*Noonan syndrome, Cardiofaciocutaneous syndromeAD6335
LARP7Alazami syndromeAR1910
LFNG#Spondylocostal dysostosis, autosomal recessive 3AR15
LHX3Pituitary hormone deficiency, combinedAR916
LHX4Pituitary hormone deficiency, combinedAD1023
LZTR1Schwannomatosis, Noonan syndromeAD/AR3471
MAP2K1Cardiofaciocutaneous syndromeAD4523
MAP2K2Cardiofaciocutaneous syndromeAD2135
NIPBLCornelia de Lange syndromeAD311425
NOTCH2*Alagille syndrome, Hajdu-Cheney syndromeAD3770
NRASNoonan syndromeAD3114
OBSL13-M syndromeAR1333
ORC1Meier-Gorlin syndrome (Ear-patella-short stature syndrome)AR910
ORC4Meier-Gorlin syndrome (Ear-patella-short stature syndrome)AR246
ORC6Meier-Gorlin syndrome (Ear-patella-short stature syndrome)AR76
OSGEPGalloway-Mowat syndromeAR1117
OTX2Microphthalmia, syndromic, Pituitary hormone deficiency, combined, Retinal dystrophy, early-onset, and pituitary dysfunctionAD2373
PCNTMicrocephalic osteodysplastic primordial dwarfismAR4988
PISDAR
PITX2Axenfeld-Rieger syndrome, Ring dermoid of cornea, Iridogoniodysgenesis, Peters anomalyAD23101
POC1AShort stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT syndrome)AR48
POP1Anauxetic dysplasia 2AR56
POU1F1Pituitary hormone deficiency, combinedAR2041
PPP3CAEpilepitic encephalopathyAD811
PRMT7Short stature, brachydactyly, intellectual developmental disability, and seizures (SBIDDS)AR1011
PROP1Pituitary hormone deficiency, combinedAR3337
PTPN11Noonan syndrome, MetachondromatosisAD135140
PUF60Short stature, MicrocephalyAD2430
RAD21*Cornelia de Lange syndrome 4AD1411
RAF1LEOPARD syndrome, Noonan syndrome, Dilated cardiomyopathy (DCM)AD4553
RALA*Intellectual disabilityAD1
RASA2Noonan syndromeAD13
RBBP8Seckel syndrome, Jawad syndromeAR66
RIT1Noonan syndromeAD2326
RNU4ATACRoifman syndrome, Microcephalic osteodysplastic primordial dwarfism type 1, Microcephalic osteodysplastic primordial dwarfism type 3AR1524
RRASNoonan-syndrome like phenotypeAD/AR2
RTTNMicrocephaly, short stature, and polymicrogyria with or without seizuresAR1616
SGMS2Osteoporosis and osteoporotic fractures, Skeletal dysplasia and disordersAD
SHOC2Noonan-like syndrome with loose anagen hairAD24
SHOX#*Leri-Weill dyschondrosteosis, Langer mesomelic dysplasia, Short statureXL/PAR25431
SMARCA2Nicolaides-Baraitser syndromeAD4173
SMARCE1Coffin-Siris syndromeAD1412
SMC1ACornelia de Lange syndromeXL7387
SMC3Cornelia de Lange syndromeAD2521
SOS1Noonan syndromeAD4471
SOX11Mental retardation, autosomal dominant 27AD1114
SOX2*Microphthalmia, syndromicAD34104
SOX3PanhypopituitarismXL426
SRCAPFloating-Harbor syndromeAD1643
STAT5B*Growth hormone insensitivity with immunodeficiencyAR913
TALDO1Transaldolase deficiencyAR610
TBX19Adrenocorticotropic hormone deficiencyAR1227
TBX2AD112
TBX3Ulnar-Mammary syndromeAD620
TOP3A8
TRIM37Mulibrey nanismAR1923
TRMT10AMicrocephaly, short stature, and impaired glucose metabolism 1AR27
XRCC4Short stature, microcephaly, and endocrine dysfunctionAR910
GeneAssociated phenotypesInheritanceClinVarHGMD
ACAN#Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type, Osteochondritis dissecans, short stature, and early-onset osteoarthritisAD/AR2056
ACP5Spondyloenchondrodysplasia with immune dysregulationAR1226
ACVR1Fibrodysplasia ossificans progressivaAD1419
ADAMTS10Weill-Marchesani syndromeAR814
ADAMTS17Weill-Marchesani-like syndromeAR67
ADAMTSL2#*Geleophysic dysplasia 3AR828
AGPSRhizomelic chondrodysplasia punctata type 3AR48
AIFM1Deafness, Combined oxidative phosphorylation deficiency 6, Cowchock syndromeXL2731
AKT1Proteus syndrome, Cowden syndromeAD56
ALPLOdontohypophosphatasia, Hypophosphatasia perinatal lethal, infantile, juvenile and adult formsAD/AR78291
ALX3Frontonasal dysplasia type 1AR88
ALX4Frontonasal dysplasia type 2, Parietal foraminaAD/AR1524
AMER1Osteopathia striata with cranial sclerosisXL1440
ANKHCalcium pyrophosphate deposition disease (familial chondrocalcinosis type 2), Craniometaphyseal dysplasia autosomal dominant typeAD1320
ANKRD11*KBG syndromeAD142132
ANO5Gnathodiaphyseal dysplasia, LGMD2L and distal MMD3 muscular dystrophiesAD/AR64121
ARHGAP31Adams-Oliver syndromeAD36
ARSBMucopolysaccharidosis (Maroteaux-Lamy)AR118201
ARSE*Chondrodysplasia punctata X-linked recessive, brachytelephalangic type (CDPX1)XL2246
ATP6V0A2Cutis laxa, Wrinkly skin syndromeAR1656
B3GALT6#Spondyloepimetaphyseal dysplasia with joint laxity, Ehlers-Danlos syndromeAR1727
B3GAT3#*Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defectsAR613
B4GALT7Ehlers-Danlos syndrome, progeroid formAR89
BGNSpondyloepimetaphyseal dysplasia, X-linked, Meester-Loeys syndromeXL87
BHLHA9Syndactyly Malik-Percin type, mesoaxial synostotic, with phalangeal reduction, Split hand-foot malformation with long bone deficiency (SHFLD3), Gollop-WolfgangAR443
BMP1Osteogenesis imperfectaAR721
BMP2Brachydactyly type A2AD528
BMPERDiaphanospondylodysostosisAR619
BMPR1BAcromesomelic dysplasia, Demirhan, Brachydactyly C/Symphalangism-like pheno, Brachydactyly type A2, Pulmonary arterial hypertension (PAH)AD/AR1223
CA2Osteopetrosis, with renal tubular acidosisAR931
CANT1Desbuquois dysplasiaAR2028
CASRHypocalcemia, Neonatal hyperparathyroidism, Familial Hypocalciuric hypercalcemia with transient Neonatal hyperparathyroidismAD/AR104396
CDC45Meier-Gorlin syndrome 7AR1019
CDC6Meier-Gorlin syndrome (Ear-patella-short stature syndrome)AR22
CDKN1CBeckwith-Wiedemann syndrome, IMAGE syndromeAD3581
CDT1Meier-Gorlin syndrome (Ear-patella-short stature syndrome)AR612
CHST14Ehlers-Danlos syndrome, musculocontracturalAR1521
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome)AR1837
CHSY1Temtamy preaxial brachydactyly syndromeAR616
CKAP2LFilippi syndromeAR77
CLCN5Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, Hypophosphatemic rickets,, Nephrolithiasis, I, Dent diseaseXL48272
CLCN7OsteopetrosisAD/AR1598
COL10A1Metaphyseal chondrodysplasia, SchmidAD2153
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler syndrome type 2AD/AR3494
COL11A2Weissenbacher-Zweymuller syndrome, Deafness, Otospondylomegaepiphyseal dysplasia, Fibrochondrogenesis, Stickler syndrome type 3 (non-ocular)AD/AR2957
COL1A1Ehlers-Danlos syndrome, Caffey disease, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4AD352962
COL1A2Ehlers-Danlos syndrome, cardiac valvular form, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4AD/AR186509
COL27A1Steel syndromeAR77
COL2A1Avascular necrosis of femoral head, Rhegmatogenous retinal detachment, Epiphyseal dysplasia, with myopia and deafness, Czech dysplasia, Achondrogenesis type 2, Platyspondylic dysplasia Torrance type, Hypochondrogenesis, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Kniest dysplasia, Spondyloperipheral dysplasia, Mild SED with premature onset arthrosis, SED with metatarsal shortening, Stickler syndrome type 1AD180561
COL9A1Stickler syndrome recessive type, Multiple epiphyseal dysplasia type 6 (EDM6)AR96
COL9A2Stickler syndrome, Multiple epiphyseal dysplasia type 2 (EDM2)AD/AR712
COL9A3Multiple epihyseal dysplasia type 3 (EDM3), Stickler syndrome recessive typeAD/AR1014
COMPPseudoachondroplasia, Multiple ephiphyseal dysplasiaAD43186
CREBBPRubinstein-Taybi syndromeAD175362
CRLF1Crisponi syndrome, Cold-induced sweating syndrome, type 1AR2137
CRTAPOsteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4AR1230
CSPP1Jeune asphyxiating thoracic dystrophy, Joubert syndromeAR3227
CTSKPycnodysostosisAR3558
CUL73-M syndrome, Yakut short stature syndromeAR2683
CYP27B1Vitamin D-dependent ricketsAR2373
DDR2Spondylometaepiphyseal dysplasia, short limb-hand typeAR119
DHCR24DesmosterolosisAR69
DLL3Spondylocostal dysostosisAR1226
DLL4Adams-Oliver syndromeAD1314
DLX3Amelogenesis imperfecta, Trichodontoosseous syndromeAD511
DMP1Hypophosphatemic ricketsAR510
DOCK6Adams-Oliver syndromeAR2121
DVL1Robinow syndromeAD1719
DYMDyggve-Melchior-Clausen dysplasia, Smith-McCort dysplasiaAR2234
DYNC2H1Short -rib thoracic dysplasia with or without polydactyly type 1, Short -rib thoracic dysplasia with or without polydactyly type 3, Asphyxiating thoracic dysplasia (ATD; Jeune), SRPS type 2 (Majewski)AR/Digenic148205
EBPChondrodysplasia punctata, Male EBP disorder with neurologic defects (MEND)XL4390
EFNB1Craniofrontonasal dysplasiaXL28116
EFTUD2Mandibulofacial dysostosis with microcephaly, Esophageal atresia, syndromicAD4599
EIF2AK3SED, Wolcott-Rallison typeAR980
ENAMAmelogenesis imperfectaAD/AR818
ENPP1Arterial calcification, Hypophosphatemic ricketsAD/AR2272
EOGTAdams-Oliver syndromeAR85
EP300Rubinstein-Taybi syndromeAD63101
ESCO2SC phocomelia syndrome, Roberts syndromeAR3031
EVCWeyers acrofacial dysostosis, Ellis-van Creveld syndromeAD/AR5883
EVC2Ellis-van Creveld syndrome, Weyers acrodental dysostosisAD/AR7875
EXT1Multiple cartilagenious exostoses 1AD97523
EXT2Multiple cartilagenious exostoses 2AD45250
EXTL3Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA)AR48
EZH2Weaver syndromeAD2941
FAM111AKenny-Caffey syndrome, type 2AD59
FAM20AAmelogenesis imperfecta (Enamel-renal syndrome)AR1941
FAM20CHypophosphatemia, hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis (Raine syndrome)AR1325
FAM83HAmelogenesis imperfectaAD1432
FANCBFanconi anemiaXL1121
FANCCFanconi anemiaAR9464
FBN1MASS syndrome, Marfan syndrome, Acromicric dysplasia, Geleophysic dysplasia 3AD14652679
FBN2Congenital contractural arachnodactyly (Beals syndrome)AD5097
FGF23Tumoral calcinosis, hyperphosphatemic, Hypophosphatemic ricketsAD/AR1017
FGFR1Pfeiffer syndrome, Trigonocephaly, Hypogonadotropic hypogonadism, Osteoglophonic Dwarfism – Craniostenosis, Hartsfield syndromeAD/Digenic/Multigenic72257
FGFR2Apert syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome, Lacrimoauriculodentodigital syndrome, Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial-skeletal-dermatological dysplasia, Crouzon syndrome, Bent bone dysplasiaAD100154
FGFR3Lacrimoauriculodentodigital syndrome, Muenke syndrome, Crouzon syndrome with acanthosis nigricans, Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome, Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 2, SADDANAD/AR5477
FKBP10Bruck syndrome 1, Osteogenesis imperfecta, type XIAR2044
FLNAFrontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defectsXL133257
FLNBLarsen syndrome (dominant), Atelosteogenesis type 1, Atelosteogenesis type 3, Spondylo-carpal-tarsal dyspasiaAD/AR43121
GALNT3Tumoral calcinosis, hyperphosphatemicAR1735
GDF5Multiple synostoses syndrome, Fibular hypoplasia and complex brachydactyly, Acromesomelic dysplasia, Hunter-Thompson, Symphalangism, proximal, Chondrodysplasia, Brachydactyly type A2, Brachydactyly type C, Grebe dysplasiaAD/AR2353
GJA1*Oculodentodigital dysplasia mild type, Oculodentodigital dysplasia severe type, Syndactyly type 3AD/AR31107
GLI3Acrocallosal syndrome, Pallister-Hall syndrome, Grieg cephalopolysndactyly syndrome, Postaxial polydactyly type A, Preaxial polydactyly type 3, Preaxial polydactyly type 4AD70235
GNASMcCune-Albright syndrome, Progressive osseous heteroplasia, Pseudohypoparathyroidism, Albright hereditary osteodystrophyAD64274
GNPATRhizomelic chondrodysplasia punctata, rhizomelicAR814
GPC6Omodysplasia 1AR139
HDAC8Cornelia de Lange syndromeXL4150
HOXA13#Hand-foot-uterus syndrome, Hand-foot-genital syndrome, Guttmacher syndromeAD827
HOXD13Brachydactyly-syndactyly syndrome, Synopolydactyly, Syndactyly, Synopolydactyly with clefting, Brachydactyly type DAD/AR1841
HSPG2Schwartz-Jampel syndrome, Dyssegmental dysplasia Silverman-Handmaker type, Dyssegmental dysplasia Rolland-Desbuquis typeAD/AR1660
IDS*MucopolysaccharidosisXL85637
IDUAMucopolysaccharidosisAR105282
IFT122*Sensenbrenner syndrome, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2AR1323
IFT140Short -rib thoracic dysplasia with or without polydactyly, Asphyxiating thoracic dysplasia (ATD; Jeune)AR3863
IFT172Retinitis pigmentosa, Short -rib thoracic dysplasia with or without polydactyly, Asphyxiating thoracic dysplasia (ATD; Jeune)AR2225
IFT43Cranioectodermal dysplasia 3AR47
IFT80Short -rib thoracic dysplasia with or without polydactyly, Asphyxiating thoracic dysplasia (ATD; Jeune)AR1111
IHHAcrocapitofemoral dysplasia, Brachydactyly, Syndactyly type LuekenAD/AR1232
IMPAD1Chondrodysplasia with joint dislocations, GPAPP typeAR55
INPPL1OpsismodysplasiaAR1632
KAT6BOhdo syndrome, SBBYS variant, Genitopatellar syndromeAD4773
KIF22Spondyloepimetaphyseal dysplasia with joint laxity, type 2AD44
KIF7Acrocallosal syndrome, Hydrolethalus syndrome, Al-Gazali-Bakalinova syndrome, Joubert syndromeAR/Digenic2444
KMT2AWiedemann-Steiner syndromeAD117114
LBRPelger-Huet anomaly, Reynolds syndrome, Greenberg/HEM skeletal dysplasia, Hydrops-ectopic calcification-moth-eaten skeletal dysplasiaAD/AR2224
LEMD3Buschke-Ollendorff syndrome, OsteopoikilosisAD1332
LIFRStuve-Wiedemann dysplasia, Schwartz-Jampel type 2 syndromeAR1232
LMNAHeart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Muscular dystrophy, congenital, LMNA-related, Lipodystrophy (Dunnigan), Emery-Dreiffus muscular dystrophy, Malouf syndrome, Dilated cardiomyopathy (DCM), Mandibuloacral dysplasia type A, Progeria Hutchinson-Gilford typeAD/AR250564
LMX1BNail-patella syndromeAD26194
LONP1Cerebral, Ocular, Dental, Auricular, and Skeletal anomalies (CODAS) syndromeAR918
LRP4Cenani-Lenz syndactyly syndrome, Sclerosteosis, Myasthenic syndrome, congenitalAD/AR1428
LRP5*Van Buchem disease, Osteoporosis-pseudoglioma syndrome, Hyperostosis, endosteal, Osteosclerosis, Exudative vitreoretinopathy, Osteopetrosis late-onset form type 1, LRP5 primary osteoporosisAD/AR/Digenic57196
LTBP2Weill-Marchesani syndrome, Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Glaucoma, primary congenitalAR2127
LTBP3Dental anomalies and short stature, Geleophysic dysplasia 3AD/AR1511
MAFBMulticentric carpotarsal osteolysisAD1323
MATN3Spondyloepimetaphyseal dysplasia Matrilin type, Multiple epiphyseal dysplasia type 5 (EDM5)AD/AR825
MESP2Spondylocostal dysostosis 2, autosomal recessiveAR186
MGPKeutel syndromeAR58
MMP13Metaphyseal anadysplasia 1, Metaphyseal dysplasia, Spahr type, Spondyloepimetaphyseal dysplasia, Missouri typeAD/AR77
MMP2Torg-Winchester syndrome, Multicentric osteolysis, nodulosis, and arthropathyAR822
MMP9Metaphyseal anadysplasiaAR17
MSX2*Parietal foramina, Parietal foramina with cleidocranial dysplasia, Craniosynostosis Boston typeAD925
MYCNFeingold syndromeAD2741
MYO18BKlippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphismAR24
NANSSpondyloepimetaphyseal dysplasiam Genevieve typeAR812
NEK1Short -rib thoracic dysplasia with or without polydactyly, SRPS type 2 (Majewski)AR/Digenic2223
NF1*Watson syndrome, Neurofibromatosis, Neurofibromatosis-Noonan syndromeAD11572901
NFIXMarshall-SmithsyndromeAD4978
NIPBLCornelia de Lange syndromeAD311425
NKX3-2Spondylo-megaepiphyseal-metaphyseal dysplasiaAR44
NOGTarsal-carpal coalition syndrome, Multiple synostosis syndrome, Stapes ankylosis with broad thumb and toes (Teunissen-Cremers syndrome), Symphalangism, proximal, Brachydactyly type B2AD2063
NOTCH2*Alagille syndrome, Hajdu-Cheney syndromeAD3770
NPR2Acromesomelic dysplasia type Maroteaux, Epiphyseal chondrodysplasia, Miura, Short stature with nonspecific skeletal abnormalitiesAD/AR3275
NSD1Sotos syndrome, Weaver syndrome, Beckwith-Wiedemann syndromeAD329517
NSDHLCongenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome), CK syndromeXL1528
OBSL13-M syndromeAR1333
ORC1Meier-Gorlin syndrome (Ear-patella-short stature syndrome)AR910
ORC4Meier-Gorlin syndrome (Ear-patella-short stature syndrome)AR246
ORC6Meier-Gorlin syndrome (Ear-patella-short stature syndrome)AR76
OSTM1Osteopetrosis, autosomal recessive 5AR59
P3H1Osteogenesis imperfectaAR1863
PAPSS2Brachyolmia 4 with mild epiphyseal and metaphyseal changes, SEMD PAPPS2 typeAR1320
PCNTMicrocephalic osteodysplastic primordial dwarfismAR4988
PCYT1ASpondylometaphyseal dysplasia with cone-rod dystrophyAR1220
PDE4DAcrodysostosis 2, with or without hormone resistanceAD1538
PEX7Refsum disease, Rhizomelic CDP type 1AR4453
PGM3Immunodeficiency 23AR1415
PHEXHypophosphatemic ricketsXL263437
PIK3CA*Cowden syndrome, CLOVESAD8556
PISDAR
PLOD2Bruck syndrome, Osteogenesis imperfecta type 3AR823
PLS3Osteoporosis and osteoporotic fracturesXL117
POLR1C#Treacher Collins syndromeAR1721
POLR1DTreacher Collins syndromeAD/AR926
PORDisordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency, Antley-Bixler syndromeAR1470
PPIBOsteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4AR813
PRKAR1AMyxoma, intracardiac, Acrodysostosis, Pigmented nodular adrenocortical disease, Carney complexAD75183
PTDSS1Lenz-Majewski hyperostotic dwarfismAD57
PTH1RMetaphyseal chondrodysplasia Jansen type, Failure of tooth eruption, Eiken dysplasia, Blomstrand dysplasiaAD/AR1343
PTHLHBrachydactyly, type E2AD518
PTPN11Noonan syndrome, MetachondromatosisAD135140
PYCR1Cutis laxa AR type 2BAR1938
RAB33BDyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia 2AR67
RAD21*Cornelia de Lange syndrome 4AD1411
RBPJ*Adams-Oliver syndromeAD76
RECQL4Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndromeAR82114
RMRPCartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis, Anauxetic dysplasiaAR87123
RNU4ATACRoifman syndrome, Microcephalic osteodysplastic primordial dwarfism type 1, Microcephalic osteodysplastic primordial dwarfism type 3AR1524
ROR2Robinow syndrome recessive type, Brachydactyly type BAD/AR2140
RUNX2Cleidocranial dysplasia, Metaphyseal dysplasia with maxillary hypoplasiaAD21216
SBDS*Aplastic anemia, Shwachman-Diamond syndrome, Severe spondylometaphyseal dysplasiaAD/AR1990
SERPINF1Osteogenesis imperfecta, type VIAR941
SERPINH1Osteogenesis imperfecta type 3AR36
SETBP1Mental retardation, autosomal dominant 29, Schinzel-Giedion midface retraction syndromeAD2346
SF3B4Acrofacial dysostosis 1, NagerAD2738
SH3BP2CherubismAD916
SH3PXD2BFrank-ter Haar syndromeAR820
SHOX#*Leri-Weill dyschondrosteosis, Langer mesomelic dysplasia, Short statureXL/PAR25431
SKIShprintzen-Goldberg syndromeAD2023
SLC26A2Diastrophic dysplasia, Atelosteogenesis type 2, De la Chapelle dysplasia, Recessive Multiple Epiphyseal dysplasia, Achondrogenesis type 1BAR7354
SLC29A3Histiocytosis-lymphadenopathy plus syndrome, DysosteosclerosisAR1725
SLC34A3Hypophosphatemic rickets with hypercalciuriaAR2238
SLC35D1Schneckenbecken dysplasiaAR77
SLC39A13Spondylodysplastic Ehlers-Danlos syndromeAR29
SLCO2A1Hypertrophic osteoarthropathyAD/AR1372
SMAD3Aneurysms-osteoarthritis syndrome, Loeys-Dietz syndromeAD4882
SMAD4Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Polyposis, juvenile intestinal, Myhre dysplasia, Hereditary hemorrhagic telangiectasiaAD179143
SMARCAL1Schimke immunoosseous dysplasiaAR2088
SMC1ACornelia de Lange syndromeXL7387
SMC3Cornelia de Lange syndromeAD2521
SNX10Osteopetrosis, autosomal recessive 8AR313
SOSTCraniodiaphyseal dysplasia, autosomal dominant, Sclerosteosis 1, van Buchem diseaseAD/AR614
SOX9Campomelic dysplasia, 46,XY sex reversal, Brachydactyly with anonychia (Cooks syndrome)AD47144
SP7Osteogenesis imperfecta, type XIIAR23
STAMBPMicrocephaly-capillary malformation syndromeAR1519
TBX15Cousin syndromeAR24
TBX3Ulnar-Mammary syndromeAD620
TBX4Small patella syndromeAD858
TBX6Spondylocostal dysostosis 5AD/AR934
TCF12CraniosynostosisAD2356
TCIRG1Osteopetrosis, severe neonatal or infantile forms (OPTB1)AD/AR48130
TCOF1Treacher Collins syndromeAD50330
TCTN3Orofaciodigital syndrome (Mohr-Majewski syndrome), Joubert syndromeAR912
TGFB1Diaphyseal dysplasia Camurati-EngelmannAD1523
TGFB2Loeys-Dietz syndromeAD3638
TGFB3Loeys-Dietz syndrome (Reinhoff syndrome), Arrhythmogenic right ventricular dysplasiaAD1926
TGFBR1Loeys-Dietz syndromeAD4069
TGFBR2Loeys-Dietz syndromeAD58139
TMEM38BOsteogenesis imperfecta, type XIVAR27
TNFRSF11AFamilial expansile osteolysis, Paget disease of bone, Osteopetrosis, severe neonatal or infantile forms (OPTB1)AD/AR824
TNFRSF11BPaget disease of bone, juvenileAR818
TNFSF11Osteopetrosis, autosomal recessive 2AR35
TP63Rapp-Hodgkin syndrome, Orofacial cleft, ADULT syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate, Split-hand/foot malformation, Limb-mammary syndromeAD59122
TRAPPC2*Spondyloepiphyseal dysplasia tardaXL1255
TRIP11*Achondrogenesis, type IAAR1117
TRPS1Trichorhinophalangeal syndrome type 1, Trichorhinophalangeal syndrome type 3AD66140
TRPV4Metatropic dysplasia, Spondyloepiphyseal dysplasia Maroteaux type, Parastremmatic dwarfism, Hereditary motor and sensory neuropathy, Spondylometaphyseal dysplasia Kozlowski type, Spinal muscular atrophy, Charcot-Marie-Tooth disease, Brachyolmia (autosomal dominant type), Familial Digital arthropathy with brachydactylyAD6178
TTC21BShort-rib thoracic dysplasia, Nephronophthisis, Asphyxiating thoracic dysplasia (ATD; Jeune)AR2363
TWIST1Saethre-Chotzen syndrome, Robinow-Sorauf syndrome, CraniosynostosisAD28205
TYROBPNasu-Hakola disease, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathyAR814
VDRVitamin D-dependent ricketsAD/AR1766
VIPAS39Arthrogryposis, renal dysfunction, and cholestasis 2AR813
WDR19Retinitis pigmentosa, Nephronophthisis, Short -rib thoracic dysplasia with or without polydactyly, Senior-Loken syndrome, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Asphyxiating thoracic dysplasia (ATD; Jeune)AR3343
WDR34Short -rib thoracic dysplasia with or without polydactyly, Asphyxiating thoracic dysplasia (ATD; Jeune)AR1821
WDR35Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Short rib-polydactyly syndrome type 5AR2831
WDR60Short-rib thoracic dysplasia 8 with or without polydactylyAR1213
WISP3Arthropathy, progressive pseudorheumatoid, of childhood, Spondyloepiphyseal dysplasia tarda with progressive arthropathyAR1669
WNT1Osteoprosis, autosomal dominant, Osteogenesis imperfecta, type XVAD/AR940
WNT5ARobinow syndromeAD711
XYLT1Desbuquois dysplasia 2AR1119
GeneAssociated phenotypesInheritanceClinVarHGMD
AFF4Cognitive impairment, coarse facies, Heart defects, Obesity, Pulmonary involvement, Short stature, and skeletal dysplasia (CHOPS syndrome)AD33
HDAC8Cornelia de Lange syndromeXL4150
NIPBLCornelia de Lange syndromeAD311425
RAD21*Cornelia de Lange syndrome 4AD1411
SMC1ACornelia de Lange syndromeXL7387
SMC3Cornelia de Lange syndromeAD2521
GeneAssociated phenotypesInheritanceClinVarHGMD
ALPLOdontohypophosphatasia, Hypophosphatasia perinatal lethal, infantile, juvenile and adult formsAD/AR78291
ALX3Frontonasal dysplasia type 1AR88
ALX4Frontonasal dysplasia type 2, Parietal foraminaAD/AR1524
BMP4Microphthalmia, syndromic, Orofacial cleftAD839
CDC45Meier-Gorlin syndrome 7AR1019
EDNRBHirschsprung disease, ABCD syndrome, Waardenburg syndromeAD/AR1266
EFNB1Craniofrontonasal dysplasiaXL28116
ERFCraniosynostosis 4AD1716
ESCO2SC phocomelia syndrome, Roberts syndromeAR3031
FGFR1Pfeiffer syndrome, Trigonocephaly, Hypogonadotropic hypogonadism, Osteoglophonic Dwarfism – Craniostenosis, Hartsfield syndromeAD/Digenic/Multigenic72257
FGFR2Apert syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome, Lacrimoauriculodentodigital syndrome, Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial-skeletal-dermatological dysplasia, Crouzon syndrome, Bent bone dysplasiaAD100154
FGFR3Lacrimoauriculodentodigital syndrome, Muenke syndrome, Crouzon syndrome with acanthosis nigricans, Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome, Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 2, SADDANAD/AR5477
FLNBLarsen syndrome (dominant), Atelosteogenesis type 1, Atelosteogenesis type 3, Spondylo-carpal-tarsal dyspasiaAD/AR43121
FREM1Bifid nose, Manitoba oculotrichoanal syndrome, TrigonocephalyAD/AR1435
GDF5Multiple synostoses syndrome, Fibular hypoplasia and complex brachydactyly, Acromesomelic dysplasia, Hunter-Thompson, Symphalangism, proximal, Chondrodysplasia, Brachydactyly type A2, Brachydactyly type C, Grebe dysplasiaAD/AR2353
GLI3Acrocallosal syndrome, Pallister-Hall syndrome, Grieg cephalopolysndactyly syndrome, Postaxial polydactyly type A, Preaxial polydactyly type 3, Preaxial polydactyly type 4AD70235
IFT122*Sensenbrenner syndrome, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2AR1323
IFT140Short -rib thoracic dysplasia with or without polydactyly, Asphyxiating thoracic dysplasia (ATD; Jeune)AR3863
IL11RACraniosynostosis and dental anomaliesAR721
MASP13MC syndromeAR1122
MEGF8Carpenter syndrome 2AR614
MSX2*Parietal foramina, Parietal foramina with cleidocranial dysplasia, Craniosynostosis Boston typeAD925
NOGTarsal-carpal coalition syndrome, Multiple synostosis syndrome, Stapes ankylosis with broad thumb and toes (Teunissen-Cremers syndrome), Symphalangism, proximal, Brachydactyly type B2AD2063
PAX3Craniofacial-deafness-hand syndrome, Waardenburg syndromeAD/AR54149
PORDisordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency, Antley-Bixler syndromeAR1470
RAB23Carpenter syndrome 1AR515
RECQL4Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndromeAR82114
SKIShprintzen-Goldberg syndromeAD2023
SOX10Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease, Kallmann syndromeAD56148
SPECC1L*Facial clefting, oblique, 1, Opitz GBBB syndrome, type IIAD78
TCF12CraniosynostosisAD2356
TGFBR1Loeys-Dietz syndromeAD4069
TGFBR2Loeys-Dietz syndromeAD58139
TWIST1Saethre-Chotzen syndrome, Robinow-Sorauf syndrome, CraniosynostosisAD28205
TWIST2Ablepharon-macrostomia syndrome, Barber-Say syndrome, Focal facial dermal dysplasia 3, Setleis typeAD/AR79
WDR19Retinitis pigmentosa, Nephronophthisis, Short -rib thoracic dysplasia with or without polydactyly, Senior-Loken syndrome, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Asphyxiating thoracic dysplasia (ATD; Jeune)AR3343
WDR35Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Short rib-polydactyly syndrome type 5AR2831
ZIC1Craniosynostosis 6AD59
GeneAssociated phenotypesInheritanceClinVarHGMD
EXT1Multiple cartilagenious exostoses 1AD97523
EXT2Multiple cartilagenious exostoses 2AD45250
PTPN11Noonan syndrome, MetachondromatosisAD135140
GeneAssociated phenotypesInheritanceClinVarHGMD
ALPLOdontohypophosphatasia, Hypophosphatasia perinatal lethal, infantile, juvenile and adult formsAD/AR78291
ALX3Frontonasal dysplasia type 1AR88
ALX4Frontonasal dysplasia type 2, Parietal foraminaAD/AR1524
CREBBPRubinstein-Taybi syndromeAD175362
DHODHPostaxial acrofacial dysostosis (Miller syndrome)AR820
DLL3Spondylocostal dysostosisAR1226
EFNB1Craniofrontonasal dysplasiaXL28116
EFTUD2Mandibulofacial dysostosis with microcephaly, Esophageal atresia, syndromicAD4599
EHMT1Kleefstra syndromeAD8689
EP300Rubinstein-Taybi syndromeAD63101
EVCWeyers acrofacial dysostosis, Ellis-van Creveld syndromeAD/AR5883
EVC2Ellis-van Creveld syndrome, Weyers acrodental dysostosisAD/AR7875
HDAC8Cornelia de Lange syndromeXL4150
HSPG2Schwartz-Jampel syndrome, Dyssegmental dysplasia Silverman-Handmaker type, Dyssegmental dysplasia Rolland-Desbuquis typeAD/AR1660
LIFRStuve-Wiedemann dysplasia, Schwartz-Jampel type 2 syndromeAR1232
MYCNFeingold syndromeAD2741
NIPBLCornelia de Lange syndromeAD311425
POLR1AAcrofacial dysostosis, Cincinnati typeAD44
POLR1C#Treacher Collins syndromeAR1721
POLR1DTreacher Collins syndromeAD/AR926
SF3B4Acrofacial dysostosis 1, NagerAD2738
SMC1ACornelia de Lange syndromeXL7387
SMC3Cornelia de Lange syndromeAD2521
SRCAPFloating-Harbor syndromeAD1643
TCOF1Treacher Collins syndromeAD50330
TWIST1Saethre-Chotzen syndrome, Robinow-Sorauf syndrome, CraniosynostosisAD28205
UBE2AMental retardation, syndromic, NascimentoXL925
GeneAssociated phenotypesInheritanceClinVarHGMD
CDK9AR1
CHD7Isolated gonadotropin-releasing hormone deficiency, CHARGE syndromeAD276860
CLMPCongenital short bowel syndromeAR613
DHCR7Smith-Lemli-Opitz syndromeAR88217
EFTUD2Mandibulofacial dysostosis with microcephaly, Esophageal atresia, syndromicAD4599
FANCBFanconi anemiaXL1121
FANCCFanconi anemiaAR9464
GLI3Acrocallosal syndrome, Pallister-Hall syndrome, Grieg cephalopolysndactyly syndrome, Postaxial polydactyly type A, Preaxial polydactyly type 3, Preaxial polydactyly type 4AD70235
MID1*Opitz GBBB syndromeXL3096
MNX1#Currarino syndromeAD1679
MYCNFeingold syndromeAD2741
PTF1APancreatic and cerebellar agenesis, Pancreatic agenesis 2AR416
RFX6Pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula, Martinez-Frias syndrome, Mitchell-Riley syndromeAR1031
SOX2*Microphthalmia, syndromicAD34104
TTC7AGastrointestinal defects and immunodeficiency syndromeAR2146
GeneAssociated phenotypesInheritanceClinVarHGMD
ACVR2BHeterotaxy, visceral, 4, autosomalAD12
ANKS6NephronophthisisAR912
ARMC4#*Ciliary dyskinesiaAR1817
C21ORF59Ciliary dyskinesiaAR54
CCDC103Ciliary dyskinesiaAR45
CCDC114Ciliary dyskinesiaAR98
CCDC151Ciliary dyskinesia, primary, 30AR72
CCDC39Ciliary dyskinesiaAR3947
CCDC40Ciliary dyskinesiaAR3343
CFAP53Heterotaxy, visceral, 6, autosomal recessiveAR44
DNAAF1Ciliary dyskinesiaAR1938
DNAAF2Ciliary dyskinesiaAR136
DNAAF3Primary ciliary dyskinesiaAD/AR115
DNAAF5Ciliary dyskinesiaAR95
DNAH11*Ciliary dyskinesiaAR66130
DNAH5Ciliary dyskinesiaAR140197
DNAI1Ciliary dyskinesiaAR1735
DNAI2Ciliary dyskinesiaAR196
DNAL1Ciliary dyskinesiaAR31
DYX1C1Ciliary dyskinesiaAR1512
FOXH1Congenital heart malformations, HoloprosencephalyAD33
GDF1Transposition of the great arteries, dextro-looped 3, Double-outlet right ventricleAR1115
INVSNephronophthisisAR1634
LEFTY2*Left-right axis malformationsAD13
LRRC6Ciliary dyskinesiaAR1019
MMP21Heterotaxy, visceral, 7AR418
NODALHeterotaxy, visceralAD415
PIH1D3Ciliary dyskinesia, primary, 36XL212
PITRM1AR2
PKD1L1Heterotaxy, visceral, 8, autosomalAR26
SPAG1Primary ciliary dyskinesiaAR1811
TTC25Ciliary dyskinesia, primary, 35AR22
ZIC3Heterotaxy, visceral, VACTERL association, Congenital heart defects, nonsyndromicXL1541
ZMYND10Ciliary dyskinesiaAR816
GeneAssociated phenotypesInheritanceClinVarHGMD
BDNFCentral hypoventilation syndrome, congenitalAD123
CELSR3Hirschsprung diseaseAD25
EDN3Hirschsprung disease, Central hypoventilation syndrome, congenital, Waardenburg syndromeAD/AR721
EDNRBHirschsprung disease, ABCD syndrome, Waardenburg syndromeAD/AR1266
KIF1BPGoldberg-Shprintzen megacolon syndromeAR710
L1CAMMental retardation, aphasia, shuffling gait, and adducted thumbs (MASA) syndrome, Hydrocephalus due to congenital stenosis of aqueduct of Sylvius, Spastic, CRASH syndrome, Corpus callosum, partial agenesisXL80292
MITFTietz albinism-deafness syndrome, Waardenburg syndrome, Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD)AD/AR3258
NRG1Nonsyndromic Hirschsprung diseaseAD/AR110
NRTNHirschsprung diseaseAD2
PAX3Craniofacial-deafness-hand syndrome, Waardenburg syndromeAD/AR54149
PHOX2BCentral hypoventilation syndrome, congenital, Neuroblastoma, susceptiblity to, Neuroblastoma with Hirschsprung diseaseAD1186
RETHirschsprung disease, Central hypoventilation syndrome, congenital, Pheochromocytoma, Medullary thyroid carcinoma, Multiple endocrine neoplasiaAD/AR122407
RMRPCartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis, Anauxetic dysplasiaAR87123
SOX10Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease, Kallmann syndromeAD56148
ZEB2*Mowat-Wilson syndromeAD154287
GeneAssociated phenotypesInheritanceClinVarHGMD
CDONHoloprosencephalyAD710
FGF8Hypogonadotropic hypogonadismAD/Digenic1836
FGFR1Pfeiffer syndrome, Trigonocephaly, Hypogonadotropic hypogonadism, Osteoglophonic Dwarfism – Craniostenosis, Hartsfield syndromeAD/Digenic/Multigenic72257
FOXH1Congenital heart malformations, HoloprosencephalyAD33
GLI2Culler-Jones syndromeAD2982
GLI3Acrocallosal syndrome, Pallister-Hall syndrome, Grieg cephalopolysndactyly syndrome, Postaxial polydactyly type A, Preaxial polydactyly type 3, Preaxial polydactyly type 4AD70235
NODALHeterotaxy, visceralAD415
PTCH1Basal cell nevus syndromeAD193522
SHHHoloprosencephaly, Microphthalmia with colobomaAD42218
SIX3HoloprosencephalyAD1787
TGIF1HoloprosencephalyAD925
ZIC2HoloprosencephalyAD22114
GeneAssociated phenotypesInheritanceClinVarHGMD
CHD7Isolated gonadotropin-releasing hormone deficiency, CHARGE syndromeAD276860
EYA1Otofaciocervical syndrome, Branchiootic syndrome, Branchiootorenal syndromeAD56218
FLNBLarsen syndrome (dominant), Atelosteogenesis type 1, Atelosteogenesis type 3, Spondylo-carpal-tarsal dyspasiaAD/AR43121
HNRNPK*Au-Kline syndromeAD1410
IRF6Orofacial cleft, Popliteal pterygium syndrome, van der Woude syndromeAD45338
KDM1ACleft palate, psychomotor retardation, and distinctive facial featuresAD517
KDM6AKabuki syndromeXL4069
KMT2DKabuki syndromeAD350670
SIX5Branchiootorenal syndromeAD310
GeneAssociated phenotypesInheritanceClinVarHGMD
ACVRL1Hereditary hemorrhagic telangiectasiaAD140430
CCM2Cerebral cavernous malformationsAD2985
ELMO2*Vascular malformation, primary intraosseusAR35
ENGJuvenile polyposis syndrome, Hereditary hemorrhagic telangiectasiaAD158491
GLMNGlomuvenous malformationsAD848
KRIT1Cerebral cavernous malformationsAD80264
PDCD10Cerebral cavernous malformationsAD2276
PIK3CA*Cowden syndrome, CLOVESAD8556
PTEN*Bannayan-Riley-Ruvalcaba syndrome, Lhermitte-Duclos syndrome, Cowden syndromeAD435638
RASA1Parkes Weber syndrome, Capillary malformation-arteriovenous malformation, Spinal arteriovenous anomaliesAD55132
SMAD4Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Polyposis, juvenile intestinal, Myhre dysplasia, Hereditary hemorrhagic telangiectasiaAD179143
SOX18Hypotrichosis-lymphedema-telangiectasia syndrome, Hypotrichosis-lymphedema-telangiectasia-renal defect syndromeAD/AR56
STAMBPMicrocephaly-capillary malformation syndromeAR1519
TEKGlaucoma 3, primary congenital, E, Venous malformations, multiple cutaneous and mucosalAD735
GeneAssociated phenotypesInheritanceClinVarHGMD
ARHGAP31Adams-Oliver syndromeAD36
ARID1ACoffin-Siris syndrome, Mental retardationAD2735
ARID1BCoffin-Siris syndrome, Mental retardationAD153185
ATRCutaneous telangiectasia and cancer syndrome, Seckel syndromeAD/AR1033
BHLHA9Syndactyly Malik-Percin type, mesoaxial synostotic, with phalangeal reduction, Split hand-foot malformation with long bone deficiency (SHFLD3), Gollop-WolfgangAR443
BRCA2Fanconi anemia, Medulloblastoma, Glioma susceptibility, Pancreatic cancer, Wilms tumor, Breast-ovarian cancer, familialAD/AR33692659
BRIP1Fanconi anemia, Breast cancerAD/AR238189
DHODHPostaxial acrofacial dysostosis (Miller syndrome)AR820
DLL4Adams-Oliver syndromeAD1314
DLX5Split-hand/foot malformation with sensorineural hearing lossAR39
DOCK6Adams-Oliver syndromeAR2121
EOGTAdams-Oliver syndromeAR85
ERCC4Fanconi anemia, Xeroderma pigmentosum, XFE progeroid syndromeAR1370
ESCO2SC phocomelia syndrome, Roberts syndromeAR3031
FANCAFanconi anemiaAR191677
FANCBFanconi anemiaXL1121
FANCCFanconi anemiaAR9464
FANCD2*Fanconi anemiaAR2161
FANCEFanconi anemiaAR417
FANCFFanconia anemiaAR716
FANCGFanconi anemiaAR1692
FANCIFanconi anemiaAR1345
FANCLFanconi anemiaAR1324
FANCMFanconi anemiaAR650
FGF10Aplasia of lacrimal and salivary glandsAD1513
GDF5Multiple synostoses syndrome, Fibular hypoplasia and complex brachydactyly, Acromesomelic dysplasia, Hunter-Thompson, Symphalangism, proximal, Chondrodysplasia, Brachydactyly type A2, Brachydactyly type C, Grebe dysplasiaAD/AR2353
HDAC8Cornelia de Lange syndromeXL4150
KYNUHydroxykynureninuria, Vertebral, cardiac, renal, and limb defects syndrome 2AR47
NIPBLCornelia de Lange syndromeAD311425
NOTCH1Aortic valve disease, Adams-Oliver syndromeAD5696
NSDHLCongenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome), CK syndromeXL1528
PALB2Fanconi anemia, Pancreatic cancer, Breast cancerAD/AR495406
PITX1Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, Liebenberg syndromeAD316
PUF60Short stature, MicrocephalyAD2430
RAD21*Cornelia de Lange syndrome 4AD1411
RAD51CFanconi anemia, Breast-ovarian cancer, familialAD/AR107125
RBM8A*Thrombocytopenia – absent radiusAD/AR512
RBPJ*Adams-Oliver syndromeAD76
RECQL4Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndromeAR82114
SALL1*Townes-Brocks syndrome 1AD3187
SALL4Acro-renal-ocular syndrome, Duane-radial ray/Okohiro syndromeAD2156
SF3B4Acrofacial dysostosis 1, NagerAD2738
SLX4Fanconi anemiaAR1872
SMC1ACornelia de Lange syndromeXL7387
SMC3Cornelia de Lange syndromeAD2521
TBX3Ulnar-Mammary syndromeAD620
TBX5Holt-Oram syndromeAD61127
TP63Rapp-Hodgkin syndrome, Orofacial cleft, ADULT syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate, Split-hand/foot malformation, Limb-mammary syndromeAD59122
WNT7AUlna and fibula, absence of, with severe limb deficiency (Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome), Fuhrmann syndromeAR611
XRCC2Hereditary breast cancerAD/AR1021
GeneAssociated phenotypesInheritanceClinVarHGMD
ADAMTS10Weill-Marchesani syndromeAR814
ADAMTSL2#*Geleophysic dysplasia 3AR828
BMPR1BAcromesomelic dysplasia, Demirhan, Brachydactyly C/Symphalangism-like pheno, Brachydactyly type A2, Pulmonary arterial hypertension (PAH)AD/AR1223
DVL1Robinow syndromeAD1719
EXT1Multiple cartilagenious exostoses 1AD97523
FBN1MASS syndrome, Marfan syndrome, Acromicric dysplasia, Geleophysic dysplasia 3AD14652679
FGFR3Lacrimoauriculodentodigital syndrome, Muenke syndrome, Crouzon syndrome with acanthosis nigricans, Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome, Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 2, SADDANAD/AR5477
GDF5Multiple synostoses syndrome, Fibular hypoplasia and complex brachydactyly, Acromesomelic dysplasia, Hunter-Thompson, Symphalangism, proximal, Chondrodysplasia, Brachydactyly type A2, Brachydactyly type C, Grebe dysplasiaAD/AR2353
GNASMcCune-Albright syndrome, Progressive osseous heteroplasia, Pseudohypoparathyroidism, Albright hereditary osteodystrophyAD64274
IFT122*Sensenbrenner syndrome, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2AR1323
IFT140Short -rib thoracic dysplasia with or without polydactyly, Asphyxiating thoracic dysplasia (ATD; Jeune)AR3863
IHHAcrocapitofemoral dysplasia, Brachydactyly, Syndactyly type LuekenAD/AR1232
INPPL1OpsismodysplasiaAR1632
LIFRStuve-Wiedemann dysplasia, Schwartz-Jampel type 2 syndromeAR1232
LTBP2Weill-Marchesani syndrome, Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Glaucoma, primary congenitalAR2127
NPR2Acromesomelic dysplasia type Maroteaux, Epiphyseal chondrodysplasia, Miura, Short stature with nonspecific skeletal abnormalitiesAD/AR3275
PRKAR1AMyxoma, intracardiac, Acrodysostosis, Pigmented nodular adrenocortical disease, Carney complexAD75183
ROR2Robinow syndrome recessive type, Brachydactyly type BAD/AR2140
SHOX#*Leri-Weill dyschondrosteosis, Langer mesomelic dysplasia, Short statureXL/PAR25431
SLC35D1Schneckenbecken dysplasiaAR77
SMAD4Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Polyposis, juvenile intestinal, Myhre dysplasia, Hereditary hemorrhagic telangiectasiaAD179143
SOX9Campomelic dysplasia, 46,XY sex reversal, Brachydactyly with anonychia (Cooks syndrome)AD47144
TRIP11*Achondrogenesis, type IAAR1117
TRPS1Trichorhinophalangeal syndrome type 1, Trichorhinophalangeal syndrome type 3AD66140
WDR19Retinitis pigmentosa, Nephronophthisis, Short -rib thoracic dysplasia with or without polydactyly, Senior-Loken syndrome, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Asphyxiating thoracic dysplasia (ATD; Jeune)AR3343
WDR35Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Short rib-polydactyly syndrome type 5AR2831
WNT5ARobinow syndromeAD711
GeneAssociated phenotypesInheritanceClinVarHGMD
ACTB*Baraitser-Winter syndromeAD5560
ACTG1*Deafness, Baraitser-Winter syndromeAD2747
ADGRG1Polymicrogyria, bilateral frontoparietal, Polymicrogyris, bilateral perisylvianAR2735
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndromeAD1328
ARFGEF2Heterotopia, periventricularAR713
ARX#Lissencephaly, Epileptic encephalopathy, Corpus callosum, agenesis of, with abnormal genitalia, Partington syndrome, Proud syndrome, Hydranencephaly with abnormal genitalia, Mental retardationXL6693
ATP6V0A2Cutis laxa, Wrinkly skin syndromeAR1656
B3GALNT2#Muscular dystrophy-dystroglycanopathyAR1814
COL4A1Schizencephaly, Anterior segment dysgenesis with cerebral involvement, Retinal artery tortuosity, Porencephaly, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Brain small vessel diseaseAD58107
COL4A2Hemorrhage, intracerebralAD1412
DCXLissencephaly, Subcortical laminal heterotopiaXL131142
DYNC1H1Spinal muscular atrophy, Charcot-Marie-Tooth disease, Mental retardationAD6071
EMX2SchizencephalyAD46
FAT4Van Maldergem syndrome 2AR1333
FHHereditary leiomyomatosis and renal cell cancerAD/AR178207
FKTNMuscular dystrophy-dystroglycanopathy, Dilated cardiomyopathy (DCM), Muscular dystrophy-dystroglycanopathy (limb-girdle)AD/AR4558
FLNAFrontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defectsXL133257
FLVCR2Proliferative vasculopathy and hydraencephaly-hydrocephaly syndromeAR917
GMPPBMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), Limb-girdle muscular dystrophy-dystroglycanopathyAR1941
GPSM2Deafness, Chudley-McCullough syndromeAR1811
ISPDMuscular dystrophy-dystroglycanopathyAR3853
KATNB1Lissencephaly 6, with microcephalyAR610
KIF1BPGoldberg-Shprintzen megacolon syndromeAR710
KIF7Acrocallosal syndrome, Hydrolethalus syndrome, Al-Gazali-Bakalinova syndrome, Joubert syndromeAR/Digenic2444
L1CAMMental retardation, aphasia, shuffling gait, and adducted thumbs (MASA) syndrome, Hydrocephalus due to congenital stenosis of aqueduct of Sylvius, Spastic, CRASH syndrome, Corpus callosum, partial agenesisXL80292
LAMA2Muscular dystrophy, congenital merosin-deficientAR199301
LAMB1Lissencephaly 5AR87
LAMC3Cortical malformations, occipitalAR816
LARGEMuscular dystrophy-dystroglycanopathyAR1927
MACF1LissencephalyAD19
MED12Ohdo syndrome, Mental retardation, with Marfanoid habitus, FG syndrome, Opitz-Kaveggia syndrome, Lujan-Fryns syndromeXL2930
MEF2CMental retardationAD4584
MPDZHydrocephalus, nonsyndromic, autosomal recessive 2AR1424
NDE1Microhydranencephaly, LissencephalyAR1318
NSDHLCongenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome), CK syndromeXL1528
OCLN#*Pseudo-TORCH syndrome 1 (Band-like calcification with simplified gyration and polymicrogyria)AR1320
PAFAH1B1Lissencephaly, Subcortical laminar heterotopiaAD121169
PHGDHNeu-Laxova syndrome 1AR1323
PIK3CA*Cowden syndrome, CLOVESAD8556
PIK3R2Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1AD88
POMGNT2Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8AR69
POMT1Muscular dystrophy-dystroglycanopathyAR4796
RAB18Warburg micro syndrome 3AR55
RAB3GAP1Warburg micro syndromeAR2966
RAB3GAP2Warburg micro syndrome, Martsolf syndromeAR1115
RELNLissencephaly, Epilepsy, familial temporal lobeAD/AR2544
RTTNMicrocephaly, short stature, and polymicrogyria with or without seizuresAR1616
SEPSECSPontocerebellar hypoplasia, type 2DAR1015
SRPX2Rolandic epilepsy, mental retardation, and speech dyspraxiaXL34
TMEM5Muscular dystrophy-dystroglycanopathyAR117
TUBA1A*LissencephalyAD6965
TUBA8Polymicrogyria with optic nerve hypoplasiaAR13
TUBB2A#*Cortical dysplasia, complex, with other brain malformations 5AD125
TUBB2B#*Polymicrogyria, asymmetricAD2130
TUBB3*Fibrosis of extraocular muscles, congenital, Cortical dysplasia, complex, with other brain malformationsAD/AR2825
TUBG1*Cortical dysplasia, complex, with other brain malformations 4AD53
VLDLRCerebellar ataxia, mental retardation, and dysequilibrium syndromeAR1124
WDR62MicrocephalyAR3348
YWHAEDistal 17p13.3 microdeletion syndrome, Endometrial stromal sarcoma, 17p13.3 microduplication syndrome, Miller-Dieker syndromeAD/AR1244
GeneAssociated phenotypesInheritanceClinVarHGMD
ADGRG1Polymicrogyria, bilateral frontoparietal, Polymicrogyris, bilateral perisylvianAR2735
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndromeAD1328
FHHereditary leiomyomatosis and renal cell cancerAD/AR178207
GPSM2Deafness, Chudley-McCullough syndromeAR1811
KIF1BPGoldberg-Shprintzen megacolon syndromeAR710
LAMC3Cortical malformations, occipitalAR816
NDE1Microhydranencephaly, LissencephalyAR1318
NSDHLCongenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome), CK syndromeXL1528
OCLN#*Pseudo-TORCH syndrome 1 (Band-like calcification with simplified gyration and polymicrogyria)AR1320
PI4KA*Perisylvian polymicrogyria, cerebellar hypoplasia, and arthrogryposisAR164
RAB18Warburg micro syndrome 3AR55
SNAP29Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK syndrome)AR812
SRPX2Rolandic epilepsy, mental retardation, and speech dyspraxiaXL34
TBC1D20Warburg micro syndrome 4AR66
TUBA1A*LissencephalyAD6965
TUBA8Polymicrogyria with optic nerve hypoplasiaAR13
TUBB2A#*Cortical dysplasia, complex, with other brain malformations 5AD125
TUBB2B#*Polymicrogyria, asymmetricAD2130
TUBB3*Fibrosis of extraocular muscles, congenital, Cortical dysplasia, complex, with other brain malformationsAD/AR2825
WDR62MicrocephalyAR3348
GeneAssociated phenotypesInheritanceClinVarHGMD
ACAN#Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepiphyseal dysplasia, Kimberley type, Osteochondritis dissecans, short stature, and early-onset osteoarthritisAD/AR2056
ACP5Spondyloenchondrodysplasia with immune dysregulationAR1226
ADAMTS10Weill-Marchesani syndromeAR814
ADAMTSL2#*Geleophysic dysplasia 3AR828
AGPSRhizomelic chondrodysplasia punctata type 3AR48
ALPLOdontohypophosphatasia, Hypophosphatasia perinatal lethal, infantile, juvenile and adult formsAD/AR78291
ANKHCalcium pyrophosphate deposition disease (familial chondrocalcinosis type 2), Craniometaphyseal dysplasia autosomal dominant typeAD1320
ARSE*Chondrodysplasia punctata X-linked recessive, brachytelephalangic type (CDPX1)XL2246
B3GALT6#Spondyloepimetaphyseal dysplasia with joint laxity, Ehlers-Danlos syndromeAR1727
BMP1Osteogenesis imperfectaAR721
BMPR1BAcromesomelic dysplasia, Demirhan, Brachydactyly C/Symphalangism-like pheno, Brachydactyly type A2, Pulmonary arterial hypertension (PAH)AD/AR1223
CA2Osteopetrosis, with renal tubular acidosisAR931
CANT1Desbuquois dysplasiaAR2028
CDC6Meier-Gorlin syndrome (Ear-patella-short stature syndrome)AR22
CDKN1CBeckwith-Wiedemann syndrome, IMAGE syndromeAD3581
CDT1Meier-Gorlin syndrome (Ear-patella-short stature syndrome)AR612
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome)AR1837
CLCN7OsteopetrosisAD/AR1598
COL10A1Metaphyseal chondrodysplasia, SchmidAD2153
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler syndrome type 2AD/AR3494
COL11A2Weissenbacher-Zweymuller syndrome, Deafness, Otospondylomegaepiphyseal dysplasia, Fibrochondrogenesis, Stickler syndrome type 3 (non-ocular)AD/AR2957
COL1A1Ehlers-Danlos syndrome, Caffey disease, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4AD352962
COL1A2Ehlers-Danlos syndrome, cardiac valvular form, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4AD/AR186509
COL2A1Avascular necrosis of femoral head, Rhegmatogenous retinal detachment, Epiphyseal dysplasia, with myopia and deafness, Czech dysplasia, Achondrogenesis type 2, Platyspondylic dysplasia Torrance type, Hypochondrogenesis, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Kniest dysplasia, Spondyloperipheral dysplasia, Mild SED with premature onset arthrosis, SED with metatarsal shortening, Stickler syndrome type 1AD180561
COL9A1Stickler syndrome recessive type, Multiple epiphyseal dysplasia type 6 (EDM6)AR96
COL9A2Stickler syndrome, Multiple epiphyseal dysplasia type 2 (EDM2)AD/AR712
COL9A3Multiple epihyseal dysplasia type 3 (EDM3), Stickler syndrome recessive typeAD/AR1014
COMPPseudoachondroplasia, Multiple ephiphyseal dysplasiaAD43186
CRTAPOsteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4AR1230
CSPP1Jeune asphyxiating thoracic dystrophy, Joubert syndromeAR3227
CTSKPycnodysostosisAR3558
CUL73-M syndrome, Yakut short stature syndromeAR2683
CYP27B1Vitamin D-dependent ricketsAR2373
DHCR24DesmosterolosisAR69
DLL3Spondylocostal dysostosisAR1226
DVL1Robinow syndromeAD1719
DYMDyggve-Melchior-Clausen dysplasia, Smith-McCort dysplasiaAR2234
DYNC2H1Short -rib thoracic dysplasia with or without polydactyly type 1, Short -rib thoracic dysplasia with or without polydactyly type 3, Asphyxiating thoracic dysplasia (ATD; Jeune), SRPS type 2 (Majewski)AR/Digenic148205
EBPChondrodysplasia punctata, Male EBP disorder with neurologic defects (MEND)XL4390
EIF2AK3SED, Wolcott-Rallison typeAR980
ENPP1Arterial calcification, Hypophosphatemic ricketsAD/AR2272
ESCO2SC phocomelia syndrome, Roberts syndromeAR3031
EVCWeyers acrofacial dysostosis, Ellis-van Creveld syndromeAD/AR5883
EVC2Ellis-van Creveld syndrome, Weyers acrodental dysostosisAD/AR7875
FAM20CHypophosphatemia, hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis (Raine syndrome)AR1325
FGF23Tumoral calcinosis, hyperphosphatemic, Hypophosphatemic ricketsAD/AR1017
FGFR1Pfeiffer syndrome, Trigonocephaly, Hypogonadotropic hypogonadism, Osteoglophonic Dwarfism – Craniostenosis, Hartsfield syndromeAD/Digenic/Multigenic72257
FGFR2Apert syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome, Lacrimoauriculodentodigital syndrome, Beare-Stevenson cutis gyrata syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial-skeletal-dermatological dysplasia, Crouzon syndrome, Bent bone dysplasiaAD100154
FGFR3Lacrimoauriculodentodigital syndrome, Muenke syndrome, Crouzon syndrome with acanthosis nigricans, Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome, Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 2, SADDANAD/AR5477
FKBP10Bruck syndrome 1, Osteogenesis imperfecta, type XIAR2044
FLNAFrontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defectsXL133257
FLNBLarsen syndrome (dominant), Atelosteogenesis type 1, Atelosteogenesis type 3, Spondylo-carpal-tarsal dyspasiaAD/AR43121
GDF5Multiple synostoses syndrome, Fibular hypoplasia and complex brachydactyly, Acromesomelic dysplasia, Hunter-Thompson, Symphalangism, proximal, Chondrodysplasia, Brachydactyly type A2, Brachydactyly type C, Grebe dysplasiaAD/AR2353
GNPATRhizomelic chondrodysplasia punctata, rhizomelicAR814
HSPG2Schwartz-Jampel syndrome, Dyssegmental dysplasia Silverman-Handmaker type, Dyssegmental dysplasia Rolland-Desbuquis typeAD/AR1660
IFT140Short -rib thoracic dysplasia with or without polydactyly, Asphyxiating thoracic dysplasia (ATD; Jeune)AR3863
IFT172Retinitis pigmentosa, Short -rib thoracic dysplasia with or without polydactyly, Asphyxiating thoracic dysplasia (ATD; Jeune)AR2225
IFT80Short -rib thoracic dysplasia with or without polydactyly, Asphyxiating thoracic dysplasia (ATD; Jeune)AR1111
IHHAcrocapitofemoral dysplasia, Brachydactyly, Syndactyly type LuekenAD/AR1232
INPPL1OpsismodysplasiaAR1632
KAT6BOhdo syndrome, SBBYS variant, Genitopatellar syndromeAD4773
LBRPelger-Huet anomaly, Reynolds syndrome, Greenberg/HEM skeletal dysplasia, Hydrops-ectopic calcification-moth-eaten skeletal dysplasiaAD/AR2224
LIFRStuve-Wiedemann dysplasia, Schwartz-Jampel type 2 syndromeAR1232
LMX1BNail-patella syndromeAD26194
LRP5*Van Buchem disease, Osteoporosis-pseudoglioma syndrome, Hyperostosis, endosteal, Osteosclerosis, Exudative vitreoretinopathy, Osteopetrosis late-onset form type 1, LRP5 primary osteoporosisAD/AR/Digenic57196
LTBP2Weill-Marchesani syndrome, Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Glaucoma, primary congenitalAR2127
MATN3Spondyloepimetaphyseal dysplasia Matrilin type, Multiple epiphyseal dysplasia type 5 (EDM5)AD/AR825
MMP9Metaphyseal anadysplasiaAR17
MYO18BKlippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphismAR24
NEK1Short -rib thoracic dysplasia with or without polydactyly, SRPS type 2 (Majewski)AR/Digenic2223
NPR2Acromesomelic dysplasia type Maroteaux, Epiphyseal chondrodysplasia, Miura, Short stature with nonspecific skeletal abnormalitiesAD/AR3275
OBSL13-M syndromeAR1333
ORC1Meier-Gorlin syndrome (Ear-patella-short stature syndrome)AR910
ORC4Meier-Gorlin syndrome (Ear-patella-short stature syndrome)AR246
ORC6Meier-Gorlin syndrome (Ear-patella-short stature syndrome)AR76
P3H1Osteogenesis imperfectaAR1863
PAPSS2Brachyolmia 4 with mild epiphyseal and metaphyseal changes, SEMD PAPPS2 typeAR1320
PCNTMicrocephalic osteodysplastic primordial dwarfismAR4988
PEX7Refsum disease, Rhizomelic CDP type 1AR4453
PHEXHypophosphatemic ricketsXL263437
PISDAR
PLOD2Bruck syndrome, Osteogenesis imperfecta type 3AR823
PLS3Osteoporosis and osteoporotic fracturesXL117
PPIBOsteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4AR813
PTH1RMetaphyseal chondrodysplasia Jansen type, Failure of tooth eruption, Eiken dysplasia, Blomstrand dysplasiaAD/AR1343
RMRPCartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis, Anauxetic dysplasiaAR87123
RNU4ATACRoifman syndrome, Microcephalic osteodysplastic primordial dwarfism type 1, Microcephalic osteodysplastic primordial dwarfism type 3AR1524
ROR2Robinow syndrome recessive type, Brachydactyly type BAD/AR2140
RUNX2Cleidocranial dysplasia, Metaphyseal dysplasia with maxillary hypoplasiaAD21216
SBDS*Aplastic anemia, Shwachman-Diamond syndrome, Severe spondylometaphyseal dysplasiaAD/AR1990
SERPINF1Osteogenesis imperfecta, type VIAR941
SERPINH1Osteogenesis imperfecta type 3AR36
SHOX#*Leri-Weill dyschondrosteosis, Langer mesomelic dysplasia, Short statureXL/PAR25431
SLC26A2Diastrophic dysplasia, Atelosteogenesis type 2, De la Chapelle dysplasia, Recessive Multiple Epiphyseal dysplasia, Achondrogenesis type 1BAR7354
SLC34A3Hypophosphatemic rickets with hypercalciuriaAR2238
SLC39A13Spondylodysplastic Ehlers-Danlos syndromeAR29
SMAD4Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Polyposis, juvenile intestinal, Myhre dysplasia, Hereditary hemorrhagic telangiectasiaAD179143
SMARCAL1Schimke immunoosseous dysplasiaAR2088
SOX9Campomelic dysplasia, 46,XY sex reversal, Brachydactyly with anonychia (Cooks syndrome)AD47144
TCIRG1Osteopetrosis, severe neonatal or infantile forms (OPTB1)AD/AR48130
TGFB1Diaphyseal dysplasia Camurati-EngelmannAD1523
TNFRSF11AFamilial expansile osteolysis, Paget disease of bone, Osteopetrosis, severe neonatal or infantile forms (OPTB1)AD/AR824
TNFRSF11BPaget disease of bone, juvenileAR818
TRAPPC2*Spondyloepiphyseal dysplasia tardaXL1255
TRIP11*Achondrogenesis, type IAAR1117
TRPV4Metatropic dysplasia, Spondyloepiphyseal dysplasia Maroteaux type, Parastremmatic dwarfism, Hereditary motor and sensory neuropathy, Spondylometaphyseal dysplasia Kozlowski type, Spinal muscular atrophy, Charcot-Marie-Tooth disease, Brachyolmia (autosomal dominant type), Familial Digital arthropathy with brachydactylyAD6178
TTC21BShort-rib thoracic dysplasia, Nephronophthisis, Asphyxiating thoracic dysplasia (ATD; Jeune)AR2363
VDRVitamin D-dependent ricketsAD/AR1766
WDR19Retinitis pigmentosa, Nephronophthisis, Short -rib thoracic dysplasia with or without polydactyly, Senior-Loken syndrome, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Asphyxiating thoracic dysplasia (ATD; Jeune)AR3343
WDR35Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Short rib-polydactyly syndrome type 5AR2831
WISP3Arthropathy, progressive pseudorheumatoid, of childhood, Spondyloepiphyseal dysplasia tarda with progressive arthropathyAR1669
WNT5ARobinow syndromeAD711
XYLT1Desbuquois dysplasia 2AR1119
GeneAssociated phenotypesInheritanceClinVarHGMD
HESX1Septooptic dysplasia, Pituitary hormone deficiency, combinedAR/AD1526
OTX2Microphthalmia, syndromic, Pituitary hormone deficiency, combined, Retinal dystrophy, early-onset, and pituitary dysfunctionAD2373
PAX6Aniridia, cerebellar ataxia, and mental retardation (Gillespie syndrome), Keratitis, Coloboma, ocular, Cataract with late-onset corneal dystrophy, Morning glory disc anomaly, Foveal hypoplasia, Aniridia, Optic nerve hypoplasia, Peters anomalyAD144550
SOX2*Microphthalmia, syndromicAD34104