| Gene |
Chromosome |
Location |
Syndrome |
| ACOX2 | 3 | p14.3 | Bile acid synthesis defect congenital 6 |
| ACTA1 | 1 | q42.13 | Congenital myopathy 2B severe infantile autosomal recessive |
| ACTA1 | 1 | q42.13 | Congenital myopathy 2C, severe infantile, autosomal dominant |
| ACTB | 7 | p22.1 | Baraitser-Winter syndrome 1 |
| ACTG1 | 17 | q25.3 | Baraitser-Winter syndrome 2 |
| ADAMTS15 | 11 | q25 | Distal arthrogryposis type 12 |
| ADCY6 | 12 | q13.12 | Lethal congenital contracture syndrome 8 (LCCS8) |
| ADGRG6 | 6 | q24.2 | Lethal congenital contracture syndrome 9 |
| AIMP1 | 4 | q24 | Leukodystrophy, hypomyelinating, 3 |
| ALG3 | 3 | q27.1 | Congenital disorder of glycosylation, type Id |
| ASCC1 | 10 | q22.1 | Spinal muscular atrophy with congenital bone fractures 2 |
| ATAD1 | 10 | q23.31 | Hyperekplexia 4 |
| ATP1A2 | 1 | q23.2 | Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies |
| ATP6V1A | 3 | Q13.31 | Developmental and epileptic encephalopathy 93 |
| B3GALT6 | 1 | p36.33 | Al-Gazali syndrome |
| B3GALT6 | 1 | p36.33 | spondylodysplastic Ehlers-Danlos syndrome type 2 |
| B3GAT3 | 11 | q12.3 | Larsen syndrome ? autosomal recessive |
| BICD2 | 9 | q22.31 | Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant |
| BICD2 | 9 | q22.31 | Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant |
| BLTP1 | 4 | q27 | Alkuraya-Kucinskas syndrome |
| CACNA1S | 1 | q32.1 | Congenital myopathy 18 due to dihydropyridine receptor defect |
| CACNA1E | 1 | q25.3 | Developmental and epileptic encephalopathy 69 |
| CCDC47 | 17 | q23.3 | Trichohepatoneurodevelopmental syndrome |
| CDK5 | 7 | q36.1 | Lissencephaly 7 with cerebellar hypoplasia |
| CEP55 | 10 | q23.33 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly |
| CHAT | 10 | q11.23 | Myasthenic syndrome, congenital, 6, presynaptic |
| CHMP1A | 16 | q24.3 | Pontocerebellar hypoplasia, type 8 |
| CHRNA1 | 2 | q31.1 | Congenital myasthenic syndrome |
| CHRND | 2 | q37.1 | Congenital myasthenic syndrome |
| CHRND | 2 | q37.1 | Myasthenic syndrome, congenital, 3B, fast-channel |
| CHRNE | 17 | p13.2 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency |
| CHRNG | 2 | q37.1 | Multiple pterygium syndrome |
| CHRNG | 2 | q37.1 | Escobar syndrome |
| CHST14 | 15 | q15.1 | Ehlers-Danlos syndrome, musculocontractural type |
| CIT | 12 | q24.23 | Microcephaly 17, primary, autosomal recessive |
| CNTNAP1 | 17 | q21.2 | Lethal congenital contracture syndrome 7 |
| COASY | 17 | q21.2 | Pontocerebellar hypoplasia, type 12 |
| COG6 | 13 | q14.11 | Congenital disorder of glycosylation, type Iil |
| COG6 | 13 | q14.11 | Shaheen syndrome |
| COG7 | 16 | p12.2 | Congenital disorder of glycosylation, type IIe |
| COL1A1 | 17 | q21.33 | Ehlers-Danlos syndrome, arthrochalasia type 1 |
| COL3A1 | 2 | q32.2 | Ehlers-Danlos syndrome, vascular type |
| CREBPP | 16 | p13.3 | Rubinstein-Taybi syndrome |
| CREBPP | 16 | p13.3 | Chromosome 16p13.3 duplication syndrome |
| D2S364 | 2 | q31.13 | Distal arthrogryposis type 10 |
| DCAF17 | 2 | q31.1 | Woodhouse-Sakati syndrome |
| DHCR24 | 1 | p32.3 | Desmosterolosis |
| DMPK | 19 | q13.32 | Arthrogryposis - other |
| DOK7 | 4 | p16.3 | Fetal akinesia deformation sequence 3 |
| DOK7 | 4 | p16.3 | Congenital myasthenic syndrome |
| ECEL1 | 2 | q37.1 | Distal arthrogryposis type 5D |
| ERBB3 | 12 | q13 | Lethal arthrogryposis with anterior horn cell disease |
| ERBB3 | 12 | q13 | Visceral neuropathy, familial, 1, autosomal recessive |
| ERCC1 | 19 | q13.32 | Cerebro-oculo-facio-skeletal syndrome 4 (COFS4) |
| ERCC5 | 13 | q33.1 | Cerebro-oculo-facio-skeletal syndrome 3 (COFS3) |
| ERCC6 | 10 | q11.23 | Cerebro-oculo-facio-skeletal syndrome 1 (COFS1) |
| ERGIC1 | 5 | q35.1 | Arthrogryposis multiplex congenita-2 neurogenic type |
| EXOC7 | 17 | q25.1 | Neurodevelopmental disorder with seizures and brain atrophy |
| EXOCS9 | 4 | q27 | Pontocerebellar hypoplasia, type 1D |
| FAM20C | 7 | p22.3 | Raine syndrome |
| FBN1 | 15 | q21.1 | Marfan lipodystrophy syndrome |
| FBN2 | 5 | q23.31 | Congenital contractural arachnodactyly |
| FBN2 | 5 | q23.31 | Distal arthrogryposis type 9 |
| FKBP10 | 17 | q21.2 | Kuskokwim syndrome |
| FKBP10 | 17 | q21.2 | Bruck syndrome 1 |
| FLNB | 3 | p14.3 | Larsen syndrome ? autosomal dominant |
| FLVCR2 | 14 | q24.3 | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome |
| FKTN | 9 | q31.2 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A 4 |
| GAD1 | 2 | q31.1 | Developmental and epileptic encephalopathy 89 |
| GBA | 1 | q22 | Gaucher disease, perinatal lethal |
| GBE1 | 3 | p12.3 | Glycogen storage disease type IV (GSD IV) |
| GFM2 | 5 | q13.3 | Combined oxidative phosphorylation deficiency 39 |
| GLDN | 15 | q21.2 | Lethal congenital contracture syndrome 11 |
| GLE1 | 9 | q34.11 | Congenital arthrogryposis with anterior horn cell disease |
| GLE1 | 9 | q34.11 | Lethal congenital contracture syndrome-1 |
| GNB2 | 7 | q22.1 | Neurodevelopmental disorder with hypotonia and dysmorphic facies |
| GOSR2 | 17 | q21.32 | Muscular dystrophy, congenital, with or without seizures |
| HLA-A | 6 | p22.1 | Multiple sclerosis susceptibility |
| HLA-DQB1 | 6 | p21.32 | Multiple sclerosis susceptibility |
| HLA-DRA | 6 | p21.32 | Multiple sclerosis susceptibility |
| HLA-DRB1 | 6 | p21.32 | Multiple sclerosis susceptibility |
| HRAS | 11 | p15.5 | Costello syndrome |
| IBA57 | 1 | q42.13 | Multiple mitochondrial dysfunctions syndrome 3 |
| ISLR2 | 15 | q24.1 | Congenital hydrocephalus, arthrogryposis, and abdominal distention |
| ITGB4 | 17 | q25.1 | Epidermolysis bullosa, junctional 5B, with pyloric atresia |
| KAT6B | 10 | q22.2 | Genitopatellar syndrome |
| KCNA1 | 12 | p13.32 | Episodic ataxia/myokymia syndrome |
| KIAA0442 | 7 | q11.22 | Intellectual developmental disorder, autosomal dominant 26 |
| KIAA1109 | 4 | q27 | Alkuraya-Kucinskas syndrome |
| KIDINS220 | 2 | p25.1 | Ventriculomegaly and?arthrogryposis |
| KIF1A | 2 | q37.3 | NESCAV syndrome |
| KIF1A | 2 | q37.3 | spastic paraplegia-30 |
| KIF14 | 1 | q32.1 | Meckel syndrome 12 |
| KIF5C | 2 | q23.1 | Cortical dysplasia with other brain malformations 2 (CDCBM2) |
| KLHL41 | 2 | q31.1 | Nemaline myopathy 9, |
| KLKB1 | 4 | q35.2 | Fletcher factor (prekallikrein) deficiency |
| LAMA5 | 20 | q13.33 | Bent bone dysplasia syndrome 2? |
| LGI4 | 19 | q13.12 | Arthrogryposis multiplex congenita-1 neurogenic with myelin defect |
| LMNA | 1 | q22 | Emery-Dreifuss muscular dystrophy 2, autosomal dominant |
| LMNA | 1 | q22 | Emery-Dreifuss muscular dystrophy 3, autosomal dominant |
| LMOD3 | 3 | p14.1 | Nemaline myopathy 10 |
| LZTR1 | 22 | q11.21 | Noonan syndrome 2 |
| MAGEL2 | 15 | q11.2 | Schaaf-Yang syndrome |
| MET | 7 | q31.1 | Distal arthrogryposis type 11 |
| MPZ | 1 | q23.3 | Hypomyelinating neuropathy, congenital 2 |
| MST01 | 1 | q22 | Myopathy, mitochondrial, and ataxia |
| MTRFR | 12 | q24.31 | Spastic paraplegia 55, autosomal recessive |
| MTRFR | 12 | q24.31 | Combined oxidative phosphorylation deficiency 7 |
| MUSK | 9 | q31.3 | Fetal akinesia deformation sequence 1 |
| MYBPC1 | 12 | q23.2 | Distal arthrogryposis type 1B |
| MYBPC1 | 12 | q23.2 | lethal congenital contracture syndrome-4 |
| MYBPC1 | 12 | q23.2 | Congenital myopathy 16 |
| MYH13 | 17 | p13.1 | Arthrogryposis - other |
| MYH2 | 17 | p13.1 | Arthrogryposis - other |
| MYH3 | 17 | p13.1 | Freeman-Sheldon or Sheldon-Hall |
| MYH3 | 17 | p13.1 | Distal arthrogryposis type 2A |
| MYH3 | 17 | p13.1 | Distal arthrogryposis type 2B3 |
| MYH3 | 17 | p13.1 | formerly Distal arthrogryposis type 8 - now CPSKF1A |
| MYH8 | 17 | p13.1 | Distal arthrogryposis type 7, |
| MYH8 | 17 | p13.1 | Trismus-pseudocamptodactyly |
| MYL11 | 16 | p11.2 | Distal arthrogryposis type 1C |
| MYLPF | 16 | p11.2 | Distal arthrogryposis type 1C |
| MYO18B | 22 | q12.1 | Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism |
| MYO9A | 15 | q23 | Myasthenic syndrome, congenital, 24, presynaptic |
| MYOD1 | 11 | p15.1 | Congenital myopathy 17 |
| NALCN | 13 | q32.3 | Congenital contractures of the limbs and face, hypotonia, and developmental delay |
| NEB | 2 | q23.3 | Arthrogryposis?multiplex congenita 6 |
| NEK9 | 14 | q24.3 | Arthrogryposis, Perthes disease, and upward gaze palsy |
| NUP88 | 17 | p13.2 | Fetal akinesia deformation sequence 4 |
| ORC1 | 1 | p32.3 | Meier-Gorlin syndrome 1 |
| PCDHGC4 | 5 | q31.3 | Neurodevelopmental disorder with poor growth and skeletal anomalies |
| PDCD1 | 2 | q37.3 | Multiple sclerosis susceptibility |
| PI4KA | 22 | q11.21 | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis |
| PIEZO2 | 18 | p11.22 | Arthrogryposis, distal, with impaired proprioception and touch |
| PIEZO2 | 18 | p11.22 | Distal arthrogryposis type 3 |
| PIEZO2 | 18 | p11.22 | Distal arthrogryposis type 5 |
| PIEZO2 | 18 | p11.22 | Gordon Syndrome |
| PIGS | 17 | q11.2 | Developmental and epileptic encephalopathy 95 |
| PIGT | 20 | q13.12 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 |
| PIP5K1C | 19 | p13.3 | Lethal arthrogryposis with anterior horn cell disease |
| PIP5K1C | 19 | p13.3 | Lethal congenital contractural syndrome 3 |
| PLXND1 | 3 | q22.1 | Mobius Syndrome |
| PPP3CA | 4 | q24 | Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development |
| PPP3CA | 4 | q24 | Developmental and epileptic encephalopathy 91 |
| PRUNE1 | 1 | q21.3 | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies |
| RAPSN | 11 | p11.2 | Arthrogryposis ? other |
| RAPSN | 11 | p11.2 | Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency |
| RAPSN | 11 | p11.2 | Fetal akinesia deformation sequence 2 |
| REV3L | 6 | q21 | Mobius Syndrome |
| RIPK4 | 21 | q22.3 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 |
| RMND1 | 6 | q25.1 | Combined oxidative phosphorylation deficiency 11 |
| RMRP | 9 | p13.3 | Cartilage-hair hypoplasia |
| RYR1 | 19 | q13.2 | Multiminicore disease |
| RYR1 | 19 | q13.2 | Congenital myopathy 1B, autosomal recessive |
| RYR3 | 15 | q13.3 | Congenital myopathy 20 |
| SCYL2 | 12 | q23.1 | Arthrogryposis multiplex congenita-4 neurogenic with agenesis |
| SEPN1 | 1 | p36.13 | Multiminicore disease |
| SHPK | 17 | p13.2 | Sedoheptulokinase deficiency |
| SIGIRR | 11 | p15.5 | Distal arthrogryposis type 2B |
| SLC26A2 | 5 | q32 | Diastrophic dysplasia, broad bone-platyspondylic variant |
| SLC35A3 | 1 | p21.2 | Arthrogryposis impaired intellectual development and seizures (AMRS) |
| SLC5A7 | 2 | q12.3 | Myasthenic syndrome, congenital, 20, presynaptic |
| SLC6A9 | 1 | p34.1 | Glycine encephalopathy with normal serum glycine |
| SMN1 | 5 | q13.2 | Arthrogryposis ? other |
| SMN1 | 5 | q13.2 | Amyotrophic lateral sclerosis |
| SMN1 | 5 | q13.2 | spinal muscular atrophy |
| SMPD4 | 2 | q21.1 | Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies |
| SOX10 | 22 | q13.1 | Waardenburg syndrome 2E, with or without neurologic involvement |
| SOX10 | 22 | q13.1 | Waardenburg syndrome 4C |
| SOX10 | 22 | q13.1 | Peripheral Demyelinating Neuropathy, Central Dysmyelination |
| STAC3 | 12 | q13.3 | Native American myopathy |
| SYNE1 | 6 | q25.2 | Arthrogryposis multiplex congenita-3 myogenic |
| TBCD | 17 | q25.3 | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum |
| TGFB3 | 14 | q24.3 | Loeys-Dietz syndrome 5 |
| TNNI2 | 11 | p15.5 | Distal arthrogryposis type 2B1 (Sheldon-Hall syndrome) |
| TNNT1 | 19 | q13.42 | Nemaline myopathy 5B, autosomal recessive, childhood-onset |
| TNNT3 | 11 | p15.5 | Distal arthrogryposis type 2B2 (Sheldon-Hall syndrome) |
| TOR1A | 9 | q34.11 | Arthrogryposis multiplex congenita 5 |
| TPM2 | 9 | p13 | Distal arthrogryposis type 1A, type 2B4 |
| TPM3 | 1 | q21.3 | Congenital myopathy 4A, autosomal dominant |
| TPM3 | 1 | q21.3 | Congenital myopathy 4B, autosomal recessive |
| TRIP13 | 5 | p15.33 | Mosaic variegated aneuploidy syndrome 3 |
| TRIP4 | 15 | q22.31 | Spinal muscular atrophy with congenital bone fractures 1 |
| TRPV4 | 12 | q24.11 | Neuronopathy, distal hereditary motor, autosomal dominant 8 |
| TRPV4 | 12 | q24.11 | Metatropic dysplasia |
| TTN | 2 | q31.2 | Congenital myopathy 5 with cardiomyopathy |
| UBA1 | 23 | p11.3 | Spinal muscular atrophy, X-linked 2, infantile |
| USP14 | 18 | p11.32 | Arthrogryposis ? other |
| USP14 | 18 | p11.32 | Intellectual developmental disorder, autosomal recessive 19 |
| VIPAS39 | 14 | q24.3 | Arthrogryposis renal dysfunction and cholestasis syndrome 2 (ARCS2) |
| VPS33B | 15 | q26.1 | Arthrogryposis renal dysfunction and cholestasis syndrome 1 (ARCS1) |
| VPS33B | 15 | q26.1 | Cholestasis, progressive familial intrahepatic, 12 |
| ZBTB42 | 14 | q32.33 | Lethal congenital contracture syndrome 6 |
| ZC4H2 | 23 | q11.2 | Wieacker-Wolf syndrome |
| ZMPSTE24 | 1 | p34.2 | Restrictive dermopathy 1 |
| ZNF335 | 20 | q13.12 | Microcephaly 10, primary, autosomal recessive |