Genes associated with “myoclonus”
How are genes scored? (0–100 composite)
Strong Candidates
15 genesmicrocephaly-capillary malformation syndrome
dystonia 28, childhood-onset
epilepsy, progressive myoclonic, 11
Consider
51 genesimmunodeficiency 23
spinal muscular atrophy-progressive myoclonic epilepsy syndrome
epilepsy, progressive myoclonic, 1B
neuraminidase 1
rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
solute carrier family 2 member 1
Alexander disease
neurodevelopmental disorder with hyperkinetic movements and dyskinesia
aromatic L-amino acid decarboxylase deficiency
ataxia telangiectasia
Joubert syndrome 1
MYOCLONUS, FAMILIAL, 1; MYOCL1
MYOCLONUS, FAMILIAL, 2; MYOCL2
MYOCLONUS, INTRACTABLE, NEONATAL; NEIMY
progressive myoclonic epilepsy type 8
Kufor-Rakeb syndrome
developmental and epileptic encephalopathy, 31B
multiple mitochondrial dysfunctions syndrome 7
developmental and epileptic encephalopathy 6B
neuronal ceroid lipofuscinosis 8
ceroid lipofuscinosis, neuronal, 6B (Kufs type)
transcription factor 20
glycine encephalopathy 1
adenylosuccinate lyase deficiency
neuronal ceroid lipofuscinosis 5
spinocerebellar ataxia type 2
NIPBL cohesin loading factor
developmental and epileptic encephalopathy, 27
guanidinoacetate methyltransferase deficiency
neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
T-box brain transcription factor 1
multiple congenital anomalies-hypotonia-seizures syndrome 2
GM3 synthase deficiency
neurodevelopmental disorder with epilepsy and brain atrophy
Gaucher disease due to saposin C deficiency
mitochondrial complex 2 deficiency, nuclear type 3
combined oxidative phosphorylation defect type 14
neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
Possible
183 genes — click to expand
spastic ataxia 5
spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia
syndromic X-linked intellectual disability 94
neuronal ceroid lipofuscinosis 2
neuronal ceroid lipofuscinosis 13
3-hydroxy-3-methylglutaric aciduria
pontocerebellar hypoplasia, type 1E
neuronal ceroid lipofuscinosis 3
autosomal recessive Parkinson disease 14
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
ALMS1 centrosome and basal body associated protein
PSAT deficiency
tenascin R
calcium/calmodulin dependent protein kinase IV
intellectual disability, autosomal recessive 6
epilepsy, familial adult myoclonic, 5
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
ceroid lipofuscinosis, neuronal, 4 (Kufs type)
spinocerebellar ataxia type 13
mitochondrial complex I deficiency, nuclear type 18
hyperekplexia 3
developmental and epileptic encephalopathy, 1
Charcot-Marie-Tooth disease, axonal, Type 2HH
pyruvate dehydrogenase E1-alpha deficiency
sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
developmental and epileptic encephalopathy, 69
mitochondrial complex I deficiency, nuclear type 4
dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
neonatal-onset encephalopathy with rigidity and seizures
TRAF2 and NCK interacting kinase
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
dihydropteridine reductase deficiency
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
pyridoxal phosphate-responsive seizures
developmental and epileptic encephalopathy, 2
intellectual disability, autosomal dominant 45
autosomal dominant Parkinson disease 1
developmental and epileptic encephalopathy 92
myoclonus, familial, 1
developmental and epileptic encephalopathy, 32
hyperekplexia 1
cadherin 8
DYSTONIA 11, MYOCLONIC; DYT11
Dystonia 23
DYSTONIA 26, MYOCLONIC; DYT26
EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE; EPM4
EPILEPSY, PROGRESSIVE MYOCLONIC, 6; EPM6
GAUCHER DISEASE, TYPE III; GD3
MUSCLE HYPERTROPHY; MSLHP
neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment
Alzheimer disease 4
combined oxidative phosphorylation defect type 27
RFT1-congenital disorder of glycosylation
lipoic acid synthetase deficiency
serine/arginine repetitive matrix 4
FUS RNA binding protein
coenzyme Q10 deficiency, primary, 1
Jaberi-Elahi syndrome
developmental and epileptic encephalopathy, 54
aniridia-cerebellar ataxia-intellectual disability syndrome
developmental and epileptic encephalopathy 103
multiple mitochondrial dysfunctions syndrome 1
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
tubulin tyrosine ligase like 12
polypeptide N-acetylgalactosaminyltransferase 17
COG8-congenital disorder of glycosylation
EGF like and discoidin domains 3
heparan sulfate-glucosamine 3-sulfotransferase 4
myoclonic dystonia 26
divergent protein kinase domain 1A
epilepsy, progressive myoclonic, 12
mitochondrial complex IV deficiency, nuclear type 12
CD38 molecule
catenin alpha 2
p21 (RAC1) activated kinase 1
adhesion G protein-coupled receptor L3
developmental and epileptic encephalopathy, 23
polypeptide N-acetylgalactosaminyltransferase like 6
LDL receptor related protein 1B
mitochondrial complex I deficiency, nuclear type 31
growth arrest specific 7
intellectual developmental disorder 60 with seizures
myosin light chain kinase
X-linked sideroblastic anemia with ataxia
NAD(P)HX dehydratase deficiency
Kohlschutter-Tonz syndrome-like
serine and arginine rich splicing factor 6
developmental and epileptic encephalopathy, 37
hypomyelinating leukodystrophy 11
gap junction protein gamma 1
interleukin 4
leucine rich repeat containing 70
intellectual disability, autosomal dominant 42
autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
developmental and epileptic encephalopathy 99
inositol-tetrakisphosphate 1-kinase
episodic ataxia type 5
sterile alpha motif domain containing 5
contactin 5
multiple mitochondrial dysfunctions syndrome 2
severe neurodegenerative syndrome with lipodystrophy
Jeffries-Lakhani neurodevelopmental syndrome
mitochondrial complex I deficiency, nuclear type 19
Gaucher disease type III
GM1 gangliosidosis type 3
alpha-N-acetylgalactosaminidase deficiency type 1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
combined oxidative phosphorylation defect type 11
Related phenotype searches
Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.