RGDs registry under the 'Neuromuscular disorders'
| Disorder Name (Total=57) | Aliases | Sub-Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Duchenne muscular dystrophy X-linked dominant |
•Severe dystrophinopathy, Duchenne type •DMD •Muscular dystrophy, pseudohypertrophic progressive, Duchenne type |
Muscular dystrophies |
DMD dystrophin |
Reports Updated as of Sep 15, 2022 |
PubMed |
| Spinal muscular atrophy 1 Autosomal recessive |
•Werdnig-Hoffmann disease •Muscular atrophy, infantile •SMA I |
Motor neuron disorder |
SMN1 survival of motor neuron 1, telomeric SMN2 survival of motor neuron 2, centromeric |
Reports Updated as of Sep 15, 2022 |
PubMed |
| Paramyotonia congenita of Von Eulenburg Autosomal dominant |
•Myotonia congenita •Thomsen and Becker disease •Eulenburg disease |
Skeletal muscle disorders |
SCN4A sodium voltage-gated channel alpha subunit 4 |
Reports Updated as of Sep 15, 2022 |
PubMed |
| Motor neurone disease |
Motor neuron disorder |
C9orf72 C9orf72-SMCR8 complex subunit TARDBP TAR DNA binding protein |
Reports Updated as of Sep 15, 2022 |
PubMed | |
| Episodic ataxia Autosomal dominant |
Movement disorders |
CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 CACNA1A calcium voltage-gated channel subunit alpha1 A SLC1A3 solute carrier family 1 member 3 KCNA1 potassium voltage-gated channel subfamily A member 1 SCN2A sodium voltage-gated channel alpha subunit 2 |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Congenital myopathy |
Skeletal muscle disorders |
TPM3 tropomyosin 3 TPM2 tropomyosin 2 ACTA1 actin alpha 1, skeletal muscle MEGF10 multiple EGF like domains 10 MYH7 myosin heavy chain 7 RYR1 ryanodine receptor 1 HACD1 3-hydroxyacyl-CoA dehydratase 1 SELENON selenoprotein N CCDC78 coiled-coil domain containing 78 MYL1 myosin light chain 1 CACNA1S calcium voltage-gated channel subunit alpha1 S MYL2 myosin light chain 2 TNNC2 troponin C2, fast skeletal type DNAJB4 DnaJ heat shock protein family (Hsp40) member B4 SCN4A sodium voltage-gated channel alpha subunit 4 ASCC3 activating signal cointegrator 1 complex subunit 3 MYPN myopalladin |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Qualitative or quantitative defects of dysferlin Autosomal recessive |
•Dysferlinopathy |
Muscular dystrophies |
DYSF dysferlin |
Reports Updated as of Mar 09, 2023 |
PubMed |
| Charcot-Marie-Tooth disease Autosomal dominant, Autosomal recessive, X-linked recessive, X-linked dominant |
•Charcot Marie Tooth |
Peripheral neuropathy |
FGD4 FYVE, RhoGEF and PH domain containing 4 MED25 mediator complex subunit 25 FIG4 FIG4 phosphoinositide 5-phosphatase MFN2 mitofusin 2 SH3TC2 SH3 domain and tetratricopeptide repeats 2 HSPB8 heat shock protein family B (small) member 8 SBF2 SET binding factor 2 GDAP1 ganglioside induced differentiation associated protein 1 KIF1B kinesin family member 1B PRX periaxin TRPV4 transient receptor potential cation channel subfamily V member 4 NDRG1 N-myc downstream regulated 1 LITAF lipopolysaccharide induced TNF factor YARS1 tyrosyl-tRNA synthetase 1 MTMR2 myotubularin related protein 2 DNM2 dynamin 2 RAB7A RAB7A, member RAS oncogene family HSPB1 heat shock protein family B (small) member 1 KARS1 lysyl-tRNA synthetase 1 PMP22 peripheral myelin protein 22 IGHMBP2 immunoglobulin mu DNA binding protein 2 GARS1 glycyl-tRNA synthetase 1 PRPS1 phosphoribosyl pyrophosphate synthetase 1 GJB1 gap junction protein beta 1 NEFL neurofilament light chain MPZ myelin protein zero LMNA lamin A/C EGR2 early growth response 2 RETREG1 reticulophagy regulator 1 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 INF2 inverted formin 2 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 AIFM1 apoptosis inducing factor mitochondria associated 1 HK1 hexokinase 1 GNB4 G protein subunit beta 4 SBF1 SET binding factor 1 PDK3 pyruvate dehydrogenase kinase 3 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 TRIM2 tripartite motif containing 2 COX6A1 cytochrome c oxidase subunit 6A1 GAN gigaxonin ARHGEF10 Rho guanine nucleotide exchange factor 10 MARS1 methionyl-tRNA synthetase 1 NAGLU N-acetyl-alpha-glucosaminidase DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 SPG11 SPG11 vesicle trafficking associated, spatacsin SURF1 SURF1 cytochrome c oxidase assembly factor VCP valosin containing protein MORC2 MORC family CW-type zinc finger 2 NEFH neurofilament heavy chain BSCL2 BSCL2 lipid droplet biogenesis associated, seipin MME membrane metalloendopeptidase ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 NTRK1 neurotrophic receptor tyrosine kinase 1 PMP2 peripheral myelin protein 2 MPV17 mitochondrial inner membrane protein MPV17 HINT1 histidine triad nucleotide binding protein 1 WNK1 WNK lysine deficient protein kinase 1 SPTLC2 serine palmitoyltransferase long chain base subunit 2 DNMT1 DNA methyltransferase 1 SEPTIN9 septin 9 CADM3 cell adhesion molecule 3 HSPB3 heat shock protein family B (small) member 3 KIF5A kinesin family member 5A SLC5A7 solute carrier family 5 member 7 JAG1 jagged canonical Notch ligand 1 POLR3B RNA polymerase III subunit B FBLN5 fibulin 5 SLC12A6 solute carrier family 12 member 6 ITPR3 inositol 1,4,5-trisphosphate receptor type 3 DHX9 DExH-box helicase 9 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| Amyotrophic lateral sclerosis Autosomal dominant, Autosomal recessive |
Motor neuron disorders |
FIG4 FIG4 phosphoinositide 5-phosphatase SETX senataxin ALS2 alsin Rho guanine nucleotide exchange factor ALS2 VAPB VAMP associated protein B and C TRPM7 transient receptor potential cation channel subfamily M member 7 TARDBP TAR DNA binding protein OPTN optineurin DCTN1 dynactin subunit 1 PRPH peripherin MATR3 matrin 3 SOD1 superoxide dismutase 1 FUS FUS RNA binding protein ANG angiogenin UBQLN2 ubiquilin 2 SIGMAR1 sigma non-opioid intracellular receptor 1 PFN1 profilin 1 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 TUBA4A tubulin alpha 4a NEK1 NIMA related kinase 1 ANXA11 annexin A11 KIF5A kinesin family member 5A SPG11 SPG11 vesicle trafficking associated, spatacsin ERBB4 erb-b2 receptor tyrosine kinase 4 PARK7 Parkinsonism associated deglycase DAO D-amino acid oxidase CHRNA3 cholinergic receptor nicotinic alpha 3 subunit SS18L1 SS18L1 subunit of BAF chromatin remodeling complex EWSR1 EWS RNA binding protein 1 NEFH neurofilament heavy chain VCP valosin containing protein TIA1 TIA1 cytotoxic granule associated RNA binding protein SPTLC1 serine palmitoyltransferase long chain base subunit 1 C9orf72 C9orf72-SMCR8 complex subunit UNC13A unc-13 homolog A |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Arthrogryposis multiplex congenita Autosomal dominant, Autosomal recessive, X-linked dominant |
- |
SYNE1 spectrin repeat containing nuclear envelope protein 1 NEB nebulin ADGRG6 adhesion G protein-coupled receptor G6 TNNI2 troponin I2, fast skeletal type TNNT3 troponin T3, fast skeletal type TPM2 tropomyosin 2 MYH3 myosin heavy chain 3 LGI4 leucine rich repeat LGI family member 4 RYR1 ryanodine receptor 1 ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 VPS13D vacuolar protein sorting 13 homolog D ACTA1 actin alpha 1, skeletal muscle CHRND cholinergic receptor nicotinic delta subunit CHRNG cholinergic receptor nicotinic gamma subunit BLTP1 bridge-like lipid transfer protein family member 1 ALDH5A1 aldehyde dehydrogenase 5 family member A1 ASAH1 N-acylsphingosine amidohydrolase 1 RAPSN receptor associated protein of the synapse SCN8A sodium voltage-gated channel alpha subunit 8 NALCN sodium leak channel, non-selective DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ADSS1 adenylosuccinate synthase 1 EARS2 glutamyl-tRNA synthetase 2, mitochondrial CNTNAP1 contactin associated protein 1 SCN4A sodium voltage-gated channel alpha subunit 4 PIEZO2 piezo type mechanosensitive ion channel component 2 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 SCYL2 SCY1 like pseudokinase 2 TOR1A torsin family 1 member A SENP7 SUMO specific peptidase 7 |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Early-onset generalized limb-onset dystonia Autosomal dominant |
•Early-onset primary dystonia •Early-onset primary dystonia •Early-onset primary dystonia •Early onset primary dystonia |
- |
TOR1A torsin family 1 member A |
Reports Updated as of Mar 09, 2023 |
PubMed |
| Facioscapulohumeral muscular dystrophy Autosomal dominant |
•Landouzy-Dejerine dystrophy •FSH dystrophy |
- |
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 DNMT3B DNA methyltransferase 3 beta LRIF1 ligand dependent nuclear receptor interacting factor 1 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| GNE myopathy Autosomal dominant, Autosomal recessive |
- |
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Hirayama disease |
Motor neuron disorder |
CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 CEP126 centrosomal protein 126 |
Reports Updated as of May 24, 2023 |
PubMed | |
| Limb-girdle muscular dystrophy Autosomal dominant, Autosomal recessive |
•Leyden-Mbius muscular dystrophy •Leyden-Mobius muscular dystrophy •erb's muscular dystrophy •Limb girdle muscular dystrophy •LGMD |
Muscular dystrophies |
DYSF dysferlin ANO5 anoctamin 5 CAPN3 calpain 3 TTN titin SGCB sarcoglycan beta SGCD sarcoglycan delta MYOT myotilin POMT1 protein O-mannosyltransferase 1 SGCG sarcoglycan gamma POMK protein O-mannose kinase TRAPPC11 trafficking protein particle complex subunit 11 |
Reports Updated as of May 24, 2023 |
PubMed |
| Myasthenia gravis |
•Acquired myasthenia •Autoimmune myasthenia gravis |
- |
CHAT choline O-acetyltransferase |
Reports Updated as of Sep 05, 2023 |
PubMed |
| Pontocerebellar hypoplasia type 1 Autosomal recessive |
Motor neuron disorders |
VRK1 VRK serine/threonine kinase 1 EXOSC3 exosome component 3 CLP1 cleavage factor polyribonucleotide kinase subunit 1 CHMP1A charged multivesicular body protein 1A |
Reports Updated as of Sep 05, 2023 |
PubMed | |
| Steinert myotonic dystrophy syndrome Autosomal dominant |
•Steinert disease •Myotonic dystrophy 1 •Steinert myotonic dystrophy •Dystrophia myotonica •Myotonic dystrophy type 1 |
Muscular dystrophies |
DMPK DM1 protein kinase |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Myotonic dystrophy type 2 Autosomal dominant |
•Proximal myotonic myopathy •Myotonic dystrophy 2 •Proximal myotonic dystrophy •Ricker disease •Ricker syndrome |
Muscular dystrophies |
CNBP CCHC-type zinc finger nucleic acid binding protein |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Emery-Dreifuss muscular dystrophy X-linked dominant |
•Humeroperoneal neuromuscular disease |
Muscular dystrophies |
SYNE1 spectrin repeat containing nuclear envelope protein 1 FHL1 four and a half LIM domains 1 LMNA lamin A/C TMEM43 transmembrane protein 43 SYNE2 spectrin repeat containing nuclear envelope protein 2 SUN1 Sad1 and UNC84 domain containing 1 SUN2 Sad1 and UNC84 domain containing 2 EMD emerin |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Oculopharyngeal muscular dystrophy Autosomal dominant, Autosomal recessive |
•OPMD |
Muscular dystrophies |
PABPN1 poly(A) binding protein nuclear 1 ANXA11 annexin A11 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Guillain-Barre syndrome |
•GBS •Guillain-Barré syndrome |
Peripheral neuropathy |
PMP22 peripheral myelin protein 22 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Chronic inflammatory demyelinating polyneuropathy |
•CIDP •Chronic inflammatory demyelinating polyradiculoneuropathy |
Peripheral neuropathy |
PMP22 peripheral myelin protein 22 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Bethlem myopathy Autosomal dominant, Autosomal recessive |
•Bethlem myopathy 1 •Collagen 6-related myopathy •Ullrich congenital muscular dystrophy 1 |
Muscular dystrophies |
COL6A3 collagen type VI alpha 3 chain COL6A2 collagen type VI alpha 2 chain COL6A1 collagen type VI alpha 1 chain COL12A1 collagen type XII alpha 1 chain |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Central core myopathy Autosomal dominant |
•Central core disease •Muscle core disease •Shy-Magee syndrome |
Muscle tissue disorders |
RYR1 ryanodine receptor 1 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Severe congenital nemaline myopathy Autosomal recessive |
Muscle tissue disorders |
KLHL40 kelch like family member 40 |
Reports Updated as of Dec 29, 2023 |
PubMed | |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Autosomal recessive |
•Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome •Sensory ataxic neuropathy with dysarthria and ophthalmoplegia (SANDO) |
Peripheral neuropathy |
POLG DNA polymerase gamma, catalytic subunit TWNK twinkle mtDNA helicase |
Reports Updated as of Dec 29, 2023 |
PubMed |
| Proximal myopathy with extrapyramidal signs Autosomal recessive |
•Myopathy with extrapyramidal signs |
Movement disorder |
MICU1 mitochondrial calcium uptake 1 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Muscle eye brain disease Autosomal recessive |
•Santavuori congenital muscular dystrophy •Muscle-eye-brain disease |
Muscular dystrophies |
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Monomelic amyotrophy |
•Hirayama disease •Spinal muscular atrophy juvenile nonprogressive •Juvenile muscular atrophy of the distal upper limb |
Motor neuron disorders |
SLIT1 slit guidance ligand 1 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Miyoshi muscular dystrophy Autosomal recessive |
•Miyoshi myopathy •Dysferlinopathy •Miyoshi distal myopathy |
Muscular dystrophies |
ANO5 anoctamin 5 DYSF dysferlin |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Distal arthrogryposis type 5D Autosomal recessive |
•ECEL1 distal arthrogryposis •distal arthrogryposis caused by mutation in ECEL1 •distal arthrogryposis type 5 without ophthalmoparesis •distal arthrogryposis type 5 without ophthalmoplegia •DA5D |
Muscle tissue disorders |
ECEL1 endothelin converting enzyme like 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Congenital myopathy with fiber type disproportion Autosomal dominant, Autosomal recessive, X-linked dominant |
•CFTDM •congenital fiber-type disproportion •congenital myopathy with fibre type disproportion •congenital fiber-type disproportion myopathy |
Skeletal muscle disorders |
SELENON selenoprotein N TPM3 tropomyosin 3 ACTA1 actin alpha 1, skeletal muscle MYH7 myosin heavy chain 7 RYR1 ryanodine receptor 1 MYL2 myosin light chain 2 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Progressive myositis ossificans Autosomal dominant |
•Fibrodysplasia ossificans progressiva •Stone man syndrome •FOP •myositis ossificans progressiva •progressive ossifying myositis •progressive myositis ossificans |
Skeletal muscle disorders |
ACVR1 activin A receptor type 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Lethal congenital contracture syndrome 9 Autosomal recessive |
Skeletal muscle disorders |
ADGRG6 adhesion G protein-coupled receptor G6 |
Reports Updated as of Feb 01, 2025 |
PubMed | |
| Kennedy disease X-linked recessive |
•Bulbo-spinal atrophy X-linked •spinal and bulbar muscular atrophy of Kennedy, X-linked recessive •spinal and bulbar muscular atrophy, X-linked type 1 •spinal bulbar muscular atrophy • spinobulbar muscular atrophy •X-linked BSMA •X-linked bulbo-spinal atrophy •X-linked bulbospinal amyotrophy •X-linked bulbospinal muscular atrophy •X-linked spinal and bulbar muscular atrophy •Bulbospinal neuronopathy X-linked recessive •Kennedy spinal and bulbar muscular atrophy •Spinal and bulbar muscular atrophy •Spinal and bulbar muscular atrophy X-linked |
- |
AR androgen receptor |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Autosomal recessive |
•Jankovic-Rivera syndrome •hereditary myoclonus-progressive distal muscular atrophy syndrome •hereditary myoclonus and progressive distal muscular atrophy •Spinal muscular atrophy with progressive myoclonic epilepsy •Jankovic Rivera syndrome |
Peripheral neuropathy |
ASAH1 N-acylsphingosine amidohydrolase 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Severe X-linked myotubular myopathy X-linked recessive |
•X-linked myotubular myopathy •X-linked centronuclear myopathy •myotubular myopathy 1 •myotubular myopathy, X-linked |
Skeletal muscle disorders |
DNM2 dynamin 2 MTM1 myotubularin 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Desmin-related myofibrillar myopathy Autosomal dominant, Autosomal recessive |
•Myofibrillar myopathy 1 •autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES •autosomal recessive limb-girdle muscular dystrophy type 2R •desmin-related myofibrillar myopathy •desminopathy •Desmin related myopathyMyofibrillar myopathy 1 •autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES •autosomal recessive limb-girdle muscular dystrophy type 2R •desmin-related myofibrillar myopathy •desminopathy •Desmin related myopathy |
Skeletal muscle disorders |
DES desmin TTN titin |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Dejerine-Sottas disease Autosomal dominant, Autosomal recessive |
•Charcot-Marie-Tooth disease type 3 •Charcot-Marie-Tooth disease, type 3 •CMT3 •Dejerine-Sottas neuropathy •Dejerine-Sottas syndrome •Hereditary motor and sensory neuropathy type 3 •hereditary motor and sensory neuropathy type III •HMSN 3 •HMSN III •HMSN3 •hypertrophic neuropathy of Dejerine-Sottas |
Peripheral neuropathy |
PRX periaxin MPZ myelin protein zero PMP22 peripheral myelin protein 22 EGR2 early growth response 2 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Familial dysautonomia Autosomal recessive |
•Riley-day syndrome •dysautonomia, familial •familial dysautonomia •hereditary sensory and autonomic neuropathy 3 •hereditary sensory and autonomic neuropathy type 3 •hereditary sensory and autonomic neuropathy type III •hereditary sensory neuropathy type 3 •HSAN 3 •HSAN III •HSAN3 • HSN 3 •neuropathy, hereditary sensory and autonomic, type 3 •neuropathy, hereditary sensory and autonomic, type III •Riley Day syndrome •FD |
Peripheral neuropathy |
ELP1 elongator acetyltransferase complex subunit 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Emery-Dreifuss muscular dystrophy 1, X-linked X-linked recessive |
Muscular dystrophies |
EMD emerin |
Reports Updated as of Feb 01, 2025 |
PubMed | |
| Eichsfeld type congenital muscular dystrophy Autosomal recessive |
•Rigid spine muscular dystrophy 1 •Congenital myopathy 3 with rigid spine •Myopathy, sepn1-related |
Skeletal muscle disorders |
SELENON selenoprotein N |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Pontocerebellar hypoplasia type 9 Autosomal recessive |
•AMPD2 non-syndromic pontocerebellar hypoplasia •non-syndromic pontocerebellar hypoplasia caused by mutation in AMPD2 •PCH9 |
Motor neuron disorder |
AMPD2 adenosine monophosphate deaminase 2 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| X-linked myopathy with excessive autophagy X-linked recessive |
•Autophagic vacuolar myopathy •Vacuolar myopathy •myopathy, X-linked, with excessive autophagy, X-linked recessive •XMEA |
Muscular dystrophies |
VMA21 vacuolar ATPase assembly factor VMA21 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Brown-Vialetto-van Laere syndrome 2 Autosomal recessive |
•Riboflavin transporter deficiency type 2 |
Motor neuron disorder |
SLC52A2 solute carrier family 52 member 2 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Myopathy, tubular aggregate, 1 Autosomal dominant |
•Tubular aggregate myopathy •myopathy, tubular aggregate, type 1 |
Skeletal muscle disorders |
STIM1 stromal interaction molecule 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Fibrosis of extraocular muscles, congenital, 2 Autosomal recessive |
•PHOX2A-related congenital fibrosis of the extraocular muscles •congenital fibrosis of the extraocular muscles 2 •FEOM2 locus •fibrosis of extraocular muscles, congenital, autosomal recessive |
Muscular dystrophies |
PHOX2A paired like homeobox 2A |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Congenital fibrosis of extraocular muscles type 1 Autosomal dominant |
•Blepharoptosis with absent eye movements •congenital fibrosis of extraocular muscles •congenital fibrosis of the extraocular muscles •FEOM •fibrosis of extraocular muscles, congenital •fibrosis of extraocular muscles, congenital, type 1 •congenital fibrosis of the extraocular muscles 1a •FEOM1 Locus •KIF21A-related congenital fibrosis of the extraocular muscles •ophthalmoplegia, congenital |
Muscular dystrophies |
KIF21A kinesin family member 21A |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Hereditary liability to pressure palsies Autosomal dominant |
•Hereditary neuropathy with liability to pressure palsies •current pressure-sensitive neuropathy •familial recurrent polyneuropathy •hereditary liability to pressure palsies •heterozygous microdeletion 17p11.2p12 •HNPP •neuropathy, recurrent, with pressure palsies •potato-grubbing palsy •tomaculous neuropathy •tulip-bulb digger's palsy •hereditary neuropathy with liability to pressure palsy •polyneuropathy, familial recurrent |
Peripheral neuropathy |
PMP22 peripheral myelin protein 22 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Multiminicore myopathy Autosomal dominant, Autosomal recessive |
•Multiminicore disease •MmD •multicore disease •multicore myopathy |
Skeletal muscle disorders |
RYR1 ryanodine receptor 1 TTN titin |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Amyotrophic neuralgia Autosomal dominant |
•hereditary brachial plexus neuropathy •amyotrophy, hereditary neuralgic •amyotrophy, hereditary neuralgic, with predilection for brachial plexus •brachial plexus neuropathy, hereditary •hereditary neuralgic amyotrophy •neuritis with brachial predilection |
Peripheral neuropathy |
SEPTIN9 septin 9 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Myoclonic dystonia 11 Autosomal dominant |
•Alcohol-responsive dystonia •SGCE myoclonus-dystonia syndrome •dystonia-11, myoclonic •myoclonic dystonia type 11 •myoclonus-dystonia syndrome caused by mutation in SGCE •DYT-SGCE •Dystonia 11 •Dystonia, alcohol responsive •Hereditary essential myoclonus •Myoclonic dystonia |
Movement disorders |
SGCE sarcoglycan epsilon |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Merosin deficient congenital muscular dystrophy Autosomal recessive |
•Congenital merosin-deficient muscular dystrophy 1A •Muscular dystrophy congenital, merosin negative •CMD1A •congenital merosin-deficient muscular dystrophy type 1A •congenital muscular dystrophy caused by mutation in LAMA2 •congenital muscular dystrophy due to laminin alpha2 deficiency •LAMA2 congenital muscular dystrophy •MDC1A •merosin-deficient congenital muscular dystrophy type 1A •merosin-negative congenital muscular dystrophy •muscular dystrophy, congenital merosin-deficient, type 1A •muscular dystrophy, congenital, merosin deficient or partially deficient |
Skeletal muscle disorders |
LAMA2 laminin subunit alpha 2 |
Reports Updated as of Feb 04, 2025 |
PubMed |
| LAMA2-related muscular dystrophy Autosomal recessive |
•Congenital merosin-deficient muscular dystrophy 1A •LAMA2 congenital muscular dystrophy •congenital merosin-deficient muscular dystrophy type 1A •congenital muscular dystrophy caused by mutation in LAMA2 •congenital muscular dystrophy due to laminin alpha2 deficiency •merosin-deficient congenital muscular dystrophy type 1A •merosin-negative congenital muscular dystrophy •muscular dystrophy, congenital merosin-deficient, type 1A •muscular dystrophy, congenital, merosin deficient or partially deficient •Laminin Alpha-2 Deficiency •Laminin alpha 2-related dystrophy •Merosin deficient congenital muscular dystrophy •Congenital merosin-deficient muscular dystrophy 1A •Muscular dystrophy congenital, merosin negative •CMD1A •MDC1A |
Muscular dystrophies |
LAMA2 laminin subunit alpha 2 |
Reports Updated as of Feb 26, 2025 |
PubMed |
| Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive |
•Calpainopathy •Leyden-Moebius muscular dystrophy •autosomal recessive limb-girdle muscular dystrophy caused by mutation in CAPN3 •CAPN3 autosomal recessive limb-girdle muscular dystrophy •limb-girdle muscular dystrophy due to calpain deficiency •limb-girdle muscular dystrophy type 2A •muscular dystrophy, limb-girdle, autosomal recessive 1 •muscular dystrophy, limb-girdle, type 2A •pelvofemoral muscular dystrophy •primary calpainopathy •LGMD2A |
Muscular dystrophies |
CAPN3 calpain 3 |
Reports Updated as of Feb 26, 2025 |
PubMed |
| Congenital myotonia, autosomal dominant form Autosomal dominant |
•Becker generalized myotonia •Becker disease •Becker's disease •Myotonia congenita autosomal recessive •Myotonia generalized |
Skeletal muscle disorders |
CLCN1 chloride voltage-gated channel 1 |
Reports Updated as of Feb 26, 2025 |
PubMed |