Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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Involuntary movements (HP:0004305)help
..Starting node
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Myoclonus (HP:0001336)help
Term ID: 1336
Name: Myoclonus
Synonym: Involuntary jerking movements; Jerking; Myoclonic jerks
Definition: Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Comments:
Reference: HP:0001336
Genes and Diseases:
 
       Child Nodes:
........expandMyoclonic spasms (HP:0003739) help
................... HP:0010828 Hemifacial spasm
........expandMorning myoclonic jerks (HP:0007000) help
........expandPalatal myoclonus (HP:0010530) help
........expandSpinal myoclonus (HP:0010531) help
........expandSleep myoclonus (HP:0012323) help
........expandChin myoclonus (HP:0012462) help
........expandEyelid myoclonus (HP:0025097) help
........expandErratic myoclonus (HP:0025357) help
........expandCortical myoclonus (HP:0040148) help
........expandLimb myoclonus (HP:0045084) help

 Sister Nodes: 
..expandAthetosis (HP:0002305) help
..expandChorea (HP:0002072) help
..expandClonus (HP:0002169) help
..expandFasciculations (HP:0002380) help
..expandHemiballismus (HP:0100248) help
..expandIntermittent painful muscle spasms (HP:0011964) help
..expandMotor stereotypy (HP:0000733) help
..expandParoxysmal dyskinesia (HP:0007166) help
..expandSelf-mutilation of tongue and lips due to involuntary movements (HP:0008767) help
..expandTics (HP:0100033) help
..expandTremor (HP:0001337) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001336HP:0001336Myoclonus0AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001336HP:0001336Myoclonus0ABCA7 CL E G H1034737ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent3
HP:0001336HP:0001336Myoclonus0ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophy135
HP:0001336HP:0001336Myoclonus0ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0001336HP:0001336Myoclonus0ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional116
HP:0001336HP:0001336Myoclonus0ADCY5 CL E G H111236OMIM:619647DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR25
HP:0001336HP:0001336Myoclonus0ADCY5 CL E G H111236OMIM:606703Dyskinesia, familial, with facial myokymia25
HP:0001336HP:0001336Myoclonus0ADCY5 CL E G H111236ORPHA:324588Familial dyskinesia and facial myokymiaHP:0040282 - Frequent25
HP:0001336HP:0001336Myoclonus0ADCY5 CL E G H111236OMIM:619651NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD25
HP:0001336HP:0001336Myoclonus0ADRA2B CL E G H151282ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040281 - Very frequent3
HP:0001336HP:0001336Myoclonus0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency.118
HP:0001336HP:0001336Myoclonus0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0001336HP:0001336Myoclonus0AFG3L2 CL E G H10939315ORPHA:313772Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndromeHP:0040282 - Frequent86
HP:0001336HP:0001336Myoclonus0AFG3L2 CL E G H10939315OMIM:614487Spastic ataxia 5, autosomal recessive.86
HP:0001336HP:0001336Myoclonus0AKT1 CL E G H207391ORPHA:2495Meningioma54
HP:0001336HP:0001336Myoclonus0AKT3 CL E G H10000393ORPHA:99802HemimegalencephalyHP:0040283 - Occasional19
HP:0001336HP:0001336Myoclonus0AMT CL E G H275473OMIM:605899Glycine encephalopathy.56
HP:0001336HP:0001336Myoclonus0ANO3 CL E G H6398214004ORPHA:420485Cranio-cervical dystonia with laryngeal and upper-limb involvementHP:0040283 - Occasional17
HP:0001336HP:0001336Myoclonus0AP2M1 CL E G H1173564OMIM:618587INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0001336HP:0001336Myoclonus0AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional7
HP:0001336HP:0001336Myoclonus0AP5Z1 CL E G H990722197ORPHA:306511Autosomal recessive spastic paraplegia type 48HP:0040282 - Frequent165
HP:0001336HP:0001336Myoclonus0APOE CL E G H348613OMIM:607822Alzheimer disease 3.39
HP:0001336HP:0001336Myoclonus0APP CL E G H351620ORPHA:324708ABeta amyloidosis, Iowa typeHP:0040281 - Very frequent74
HP:0001336HP:0001336Myoclonus0APP CL E G H351620ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent74
HP:0001336HP:0001336Myoclonus0ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0001336HP:0001336Myoclonus0ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1166
HP:0001336HP:0001336Myoclonus0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0001336HP:0001336Myoclonus0ARX CL E G H17030218060ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent166
HP:0001336HP:0001336Myoclonus0ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040283 - Occasional78
HP:0001336HP:0001336Myoclonus0ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy.78
HP:0001336HP:0001336Myoclonus0ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndromeHP:0040281 - Very frequent78
HP:0001336HP:0001336Myoclonus0ATAD1 CL E G H8489625903ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent
HP:0001336HP:0001336Myoclonus0ATAD1 CL E G H8489625903OMIM:618011Hyperekplexia 4.
HP:0001336HP:0001336Myoclonus0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA.3267
HP:0001336HP:0001336Myoclonus0ATN1 CL E G H18223033ORPHA:101Dentatorubral pallidoluysian atrophyHP:0040282 - Frequent16
HP:0001336HP:0001336Myoclonus0ATN1 CL E G H18223033OMIM:125370Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia16
HP:0001336HP:0001336Myoclonus0ATP13A2 CL E G H2340030213ORPHA:314632ATP13A2-related juvenile neuronal ceroid lipofuscinosisHP:0040282 - Frequent100
HP:0001336HP:0001336Myoclonus0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040282 - Frequent100
HP:0001336HP:0001336Myoclonus0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0001336HP:0001336Myoclonus0ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional239
HP:0001336HP:0001336Myoclonus0ATP1A3 CL E G H478801OMIM:619606DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99150
HP:0001336HP:0001336Myoclonus0ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional150
HP:0001336HP:0001336Myoclonus0ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional
HP:0001336HP:0001336Myoclonus0ATP6 CL E G H45087414ORPHA:644NARP syndrome
HP:0001336HP:0001336Myoclonus0ATP6V0A1 CL E G H535865OMIM:6199711
HP:0001336HP:0001336Myoclonus0ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0001336HP:0001336Myoclonus0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040283 - Occasional5
HP:0001336HP:0001336Myoclonus0ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 2.11
HP:0001336HP:0001336Myoclonus0BAP1 CL E G H8314950ORPHA:2495Meningioma184
HP:0001336HP:0001336Myoclonus0BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemiaHP:0040283 - Occasional14
HP:0001336HP:0001336Myoclonus0BRAT1 CL E G H22192721701OMIM:614498Rigidity and multifocal seizure syndrome, lethal neonatal20
HP:0001336HP:0001336Myoclonus0BSCL2 CL E G H2658015832OMIM:615924Encephalopathy, progressive, with or without lipodystrophy.105
HP:0001336HP:0001336Myoclonus0BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophyHP:0040282 - Frequent105
HP:0001336HP:0001336Myoclonus0C9ORF72 CL E G H20322828337ORPHA:401901Huntington disease-like syndrome due to C9ORF72 expansionsHP:0040284 - Very rare56
HP:0001336HP:0001336Myoclonus0CACNA1A CL E G H7731388ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent449
HP:0001336HP:0001336Myoclonus0CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional449
HP:0001336HP:0001336Myoclonus0CACNA1B CL E G H7741389OMIM:618497Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements.5
HP:0001336HP:0001336Myoclonus0CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0001336HP:0001336Myoclonus0CACNA1E CL E G H7771392OMIM:618285Developmental and epileptic encephalopathy 69.11
HP:0001336HP:0001336Myoclonus0CACNA1H CL E G H89121395ORPHA:64280Childhood absence epilepsy75
HP:0001336HP:0001336Myoclonus0CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional59
HP:0001336HP:0001336Myoclonus0CACNB4 CL E G H7851404OMIM:607682Epilepsy, idiopathic generalized, susceptibility to, 9146
HP:0001336HP:0001336Myoclonus0CACNB4 CL E G H7851404OMIM:613855Episodic ataxia, type 5146
HP:0001336HP:0001336Myoclonus0CACNB4 CL E G H7851404ORPHA:307Juvenile myoclonic epilepsy146
HP:0001336HP:0001336Myoclonus0CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 27.35
HP:0001336HP:0001336Myoclonus0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional118
HP:0001336HP:0001336Myoclonus0CASR CL E G H8461514ORPHA:428Autosomal dominant hypocalcemia272
HP:0001336HP:0001336Myoclonus0CCDC88A CL E G H5570425523OMIM:617507Peho-Like syndrome.1
HP:0001336HP:0001336Myoclonus0CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001336HP:0001336Myoclonus0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndrome405
HP:0001336HP:0001336Myoclonus0CDKL5 CL E G H679211411OMIM:300672Developmental and epileptic encephalopathy 2405
HP:0001336HP:0001336Myoclonus0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional405
HP:0001336HP:0001336Myoclonus0CDKL5 CL E G H679211411ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent405
HP:0001336HP:0001336Myoclonus0CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001336HP:0001336Myoclonus0CERS1 CL E G H1071514253OMIM:616230Epilepsy, progressive myoclonic, 8.1
HP:0001336HP:0001336Myoclonus0CHD2 CL E G H11061917ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent227
HP:0001336HP:0001336Myoclonus0CHMP2B CL E G H2597824537OMIM:600795Frontotemporal dementia and/or amytrophic lateral sclerosis 7.42
HP:0001336HP:0001336Myoclonus0CIC CL E G H2315214214OMIM:617600Mental retardation, autosomal dominant 4539
HP:0001336HP:0001336Myoclonus0CILK1 CL E G H2285821219ORPHA:307Juvenile myoclonic epilepsy
HP:0001336HP:0001336Myoclonus0CIZ1 CL E G H2579216744ORPHA:420492Adult-onset cervical dystonia, DYT23 typeHP:0040282 - Frequent16
HP:0001336HP:0001336Myoclonus0CLCN2 CL E G H11812020ORPHA:307Juvenile myoclonic epilepsy44
HP:0001336HP:0001336Myoclonus0CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndromeHP:0040283 - Occasional45
HP:0001336HP:0001336Myoclonus0CLN3 CL E G H12012074OMIM:204200Ceroid lipofuscinosis, neuronal, 3.216
HP:0001336HP:0001336Myoclonus0CLN5 CL E G H12032076OMIM:256731Ceroid lipofuscinosis, neuronal, 5.141
HP:0001336HP:0001336Myoclonus0CLN6 CL E G H549822077OMIM:204300Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive.143
HP:0001336HP:0001336Myoclonus0CLN8 CL E G H20552079OMIM:600143Ceroid lipofuscinosis, neuronal, 8.111
HP:0001336HP:0001336Myoclonus0CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 7HP:0040282 - Frequent38
HP:0001336HP:0001336Myoclonus0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0001336HP:0001336Myoclonus0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 561
HP:0001336HP:0001336Myoclonus0CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0001336HP:0001336Myoclonus0CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional18
HP:0001336HP:0001336Myoclonus0CNPY3 CL E G H1069511968ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent
HP:0001336HP:0001336Myoclonus0CNTN2 CL E G H69002172ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040281 - Very frequent9
HP:0001336HP:0001336Myoclonus0COG8 CL E G H8434218623ORPHA:95428COG8-CDGHP:0040283 - Occasional39
HP:0001336HP:0001336Myoclonus0COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 154
HP:0001336HP:0001336Myoclonus0COQ5 CL E G H8427428722OMIM:619028COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0001336HP:0001336Myoclonus0COQ8A CL E G H5699716812ORPHA:139485Autosomal recessive ataxia due to ubiquinone deficiencyHP:0040283 - Occasional136
HP:0001336HP:0001336Myoclonus0COQ8A CL E G H5699716812OMIM:612016Coenzyme Q10 deficiency, primary, 4HP:0040283 - Occasional136
HP:0001336HP:0001336Myoclonus0COX1 CL E G H45127419ORPHA:550MELASHP:0040282 - Frequent
HP:0001336HP:0001336Myoclonus0COX2 CL E G H45137421ORPHA:550MELASHP:0040282 - Frequent
HP:0001336HP:0001336Myoclonus0COX3 CL E G H45147422ORPHA:550MELASHP:0040282 - Frequent
HP:0001336HP:0001336Myoclonus0COX4I1 CL E G H13272265OMIM:619060MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0001336HP:0001336Myoclonus0CPLX1 CL E G H108152309ORPHA:352582Familial infantile myoclonic epilepsy1
HP:0001336HP:0001336Myoclonus0CSTB CL E G H14762482OMIM:254800Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)51
HP:0001336HP:0001336Myoclonus0CSTB CL E G H14762482ORPHA:308Progressive myoclonic epilepsy type 1HP:0040281 - Very frequent51
HP:0001336HP:0001336Myoclonus0CTNND2 CL E G H15012516ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040281 - Very frequent15
HP:0001336HP:0001336Myoclonus0CTSF CL E G H87222531OMIM:615362Ceroid lipofuscinosis, neuronal, 13.20
HP:0001336HP:0001336Myoclonus0CUX2 CL E G H2331619347ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent
HP:0001336HP:0001336Myoclonus0CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0001336HP:0001336Myoclonus0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosis114
HP:0001336HP:0001336Myoclonus0DAB1 CL E G H16002661ORPHA:363710Spinocerebellar ataxia type 37HP:0040282 - Frequent4
HP:0001336HP:0001336Myoclonus0DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001336HP:0001336Myoclonus0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0001336HP:0001336Myoclonus0DENND5A CL E G H2325819344OMIM:617281Epileptic encephalopathy, early infantile, 49.6
HP:0001336HP:0001336Myoclonus0DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional47
HP:0001336HP:0001336Myoclonus0DHFR CL E G H17192861OMIM:613839Megaloblastic anemia due to dihydrofolate reductase deficiency7
HP:0001336HP:0001336Myoclonus0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0001336HP:0001336Myoclonus0DNAJC5 CL E G H8033116235OMIM:162350Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant.155
HP:0001336HP:0001336Myoclonus0DNAJC6 CL E G H982915469ORPHA:391411Atypical juvenile parkinsonismHP:0040283 - Occasional6
HP:0001336HP:0001336Myoclonus0DNM1 CL E G H17592972ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent72
HP:0001336HP:0001336Myoclonus0DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional72
HP:0001336HP:0001336Myoclonus0DOCK7 CL E G H8544019190ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndromeHP:0040283 - Occasional11
HP:0001336HP:0001336Myoclonus0DRD2 CL E G H18133023ORPHA:36899Myoclonus-dystonia syndromeHP:0040281 - Very frequent16
HP:0001336HP:0001336Myoclonus0DTYMK CL E G H18413061OMIM:619847
HP:0001336HP:0001336Myoclonus0EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional60
HP:0001336HP:0001336Myoclonus0EFHC1 CL E G H11432716406ORPHA:1941Juvenile absence epilepsyHP:0040284 - Very rare153
HP:0001336HP:0001336Myoclonus0EFHC1 CL E G H11432716406ORPHA:307Juvenile myoclonic epilepsy153
HP:0001336HP:0001336Myoclonus0EFHC1 CL E G H11432716406OMIM:254770Myoclonic epilepsy, juvenile, susceptibility to, 1153
HP:0001336HP:0001336Myoclonus0EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0001336HP:0001336Myoclonus0EPM2A CL E G H79573413ORPHA:501Lafora diseaseHP:0040283 - Occasional83
HP:0001336HP:0001336Myoclonus0EPM2A CL E G H79573413OMIM:254780Myoclonic epilepsy of lafora.83
HP:0001336HP:0001336Myoclonus0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 77HP:0040283 - Occasional36
HP:0001336HP:0001336Myoclonus0FARS2 CL E G H1066721062OMIM:614946Combined oxidative phosphorylation deficiency 14.36
HP:0001336HP:0001336Myoclonus0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0001336HP:0001336Myoclonus0FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent36
HP:0001336HP:0001336Myoclonus0FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0001336HP:0001336Myoclonus0FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0001336HP:0001336Myoclonus0FOXRED1 CL E G H5557226927OMIM:618241Mitochondrial complex I deficiency, nuclear type 19.61
HP:0001336HP:0001336Myoclonus0FRMD5 CL E G H8497828214OMIM:620094
HP:0001336HP:0001336Myoclonus0FRRS1L CL E G H237321362OMIM:616981Epileptic encephalopathy, early infantile, 37.4
HP:0001336HP:0001336Myoclonus0FTL CL E G H25123999ORPHA:157846Neuroferritinopathy33
HP:0001336HP:0001336Myoclonus0FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001336HP:0001336Myoclonus0GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndrome5
HP:0001336HP:0001336Myoclonus0GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0001336HP:0001336Myoclonus0GABRA1 CL E G H25544075ORPHA:64280Childhood absence epilepsy134
HP:0001336HP:0001336Myoclonus0GABRA1 CL E G H25544075ORPHA:33069Dravet syndromeHP:0040282 - Frequent134
HP:0001336HP:0001336Myoclonus0GABRA1 CL E G H25544075ORPHA:307Juvenile myoclonic epilepsy134
HP:0001336HP:0001336Myoclonus0GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional4
HP:0001336HP:0001336Myoclonus0GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001336HP:0001336Myoclonus0GABRB2 CL E G H25614082OMIM:617829Epileptic encephalopathy, infantile or early childhood, 2.44
HP:0001336HP:0001336Myoclonus0GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional44
HP:0001336HP:0001336Myoclonus0GABRB3 CL E G H25624083ORPHA:64280Childhood absence epilepsy57
HP:0001336HP:0001336Myoclonus0GABRB3 CL E G H25624083ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent57
HP:0001336HP:0001336Myoclonus0GABRD CL E G H25634084ORPHA:307Juvenile myoclonic epilepsy10
HP:0001336HP:0001336Myoclonus0GABRG2 CL E G H25664087ORPHA:64280Childhood absence epilepsy139
HP:0001336HP:0001336Myoclonus0GABRG2 CL E G H25664087ORPHA:33069Dravet syndromeHP:0040282 - Frequent139
HP:0001336HP:0001336Myoclonus0GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional139
HP:0001336HP:0001336Myoclonus0GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional160
HP:0001336HP:0001336Myoclonus0GAMT CL E G H25934136OMIM:612736Cerebral creatine deficiency syndrome 2.91
HP:0001336HP:0001336Myoclonus0GBA1 CL E G H26294177OMIM:231000Gaucher disease, type III.
HP:0001336HP:0001336Myoclonus0GCSH CL E G H26534208OMIM:605899Glycine encephalopathy.5
HP:0001336HP:0001336Myoclonus0GFAP CL E G H26704235OMIM:203450Alexander disease188
HP:0001336HP:0001336Myoclonus0GFAP CL E G H26704235ORPHA:363717Alexander disease type I188
HP:0001336HP:0001336Myoclonus0GFAP CL E G H26704235ORPHA:363722Alexander disease type II188
HP:0001336HP:0001336Myoclonus0GLDC CL E G H27314313OMIM:605899Glycine encephalopathy.166
HP:0001336HP:0001336Myoclonus0GLRA1 CL E G H27414326ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent63
HP:0001336HP:0001336Myoclonus0GLRA1 CL E G H27414326OMIM:149400Hyperekplexia 1.63
HP:0001336HP:0001336Myoclonus0GLRB CL E G H27434329ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent46
HP:0001336HP:0001336Myoclonus0GLRB CL E G H27434329OMIM:614619Hyperekplexia 2.46
HP:0001336HP:0001336Myoclonus0GLRX5 CL E G H5121820134ORPHA:401866Childhood-onset spasticity with hyperglycinemiaHP:0040283 - Occasional17
HP:0001336HP:0001336Myoclonus0GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIA.6
HP:0001336HP:0001336Myoclonus0GLYCTK CL E G H13215824247ORPHA:941D-glyceric aciduriaHP:0040283 - Occasional6
HP:0001336HP:0001336Myoclonus0GNA11 CL E G H27674379ORPHA:428Autosomal dominant hypocalcemia16
HP:0001336HP:0001336Myoclonus0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional36
HP:0001336HP:0001336Myoclonus0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0001336HP:0001336Myoclonus0GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1B101
HP:0001336HP:0001336Myoclonus0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1C101
HP:0001336HP:0001336Myoclonus0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0001336HP:0001336Myoclonus0GOSR2 CL E G H95704431OMIM:614018Epilepsy, progressive myoclonic, 6.88
HP:0001336HP:0001336Myoclonus0GPHN CL E G H1024315465ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent18
HP:0001336HP:0001336Myoclonus0GPHN CL E G H1024315465OMIM:149400Hyperekplexia 1.18
HP:0001336HP:0001336Myoclonus0GRIA3 CL E G H28924573OMIM:300699Mental retardation, X-linked 9430
HP:0001336HP:0001336Myoclonus0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0001336HP:0001336Myoclonus0GRIK2 CL E G H28984580OMIM:611092Mental retardation, autosomal recessive 6HP:0040283 - Occasional32
HP:0001336HP:0001336Myoclonus0GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyria108
HP:0001336HP:0001336Myoclonus0GRIN1 CL E G H29024584OMIM:619814DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101108
HP:0001336HP:0001336Myoclonus0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional108
HP:0001336HP:0001336Myoclonus0GRIN1 CL E G H29024584OMIM:614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant.108
HP:0001336HP:0001336Myoclonus0GRIN2A CL E G H29034585ORPHA:289266Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutationHP:0040283 - Occasional434
HP:0001336HP:0001336Myoclonus0GRIN2B CL E G H29044586OMIM:616139Epileptic encephalopathy, early infantile, 27274
HP:0001336HP:0001336Myoclonus0GRIN2B CL E G H29044586ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent274
HP:0001336HP:0001336Myoclonus0GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0001336HP:0001336Myoclonus0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional5
HP:0001336HP:0001336Myoclonus0GUF1 CL E G H6055825799OMIM:617065Epileptic encephalopathy, early infantile, 40.2
HP:0001336HP:0001336Myoclonus0GUF1 CL E G H6055825799ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent2
HP:0001336HP:0001336Myoclonus0HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional54
HP:0001336HP:0001336Myoclonus0HEXB CL E G H30744879ORPHA:309155Sandhoff disease, infantile form80
HP:0001336HP:0001336Myoclonus0HIBCH CL E G H262754908OMIM:2506203-Hydroxyisobutyryl-Coa hydrolase deficiency.32
HP:0001336HP:0001336Myoclonus0HLA-DQB1 CL E G H31194944OMIM:123400Creutzfeldt-Jakob disease.
HP:0001336HP:0001336Myoclonus0HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduriaHP:0040283 - Occasional35
HP:0001336HP:0001336Myoclonus0HMGCL CL E G H31555005OMIM:2464503-Hydroxy-3-Methylglutaryl-Coa lyase deficiency.35
HP:0001336HP:0001336Myoclonus0HNRNPU CL E G H31925048OMIM:617391Epileptic encephalopathy, early infantile, 5439
HP:0001336HP:0001336Myoclonus0HTT CL E G H30644851ORPHA:399Huntington diseaseHP:0040282 - Frequent12
HP:0001336HP:0001336Myoclonus0HTT CL E G H30644851ORPHA:248111Juvenile Huntington diseaseHP:0040283 - Occasional12
HP:0001336HP:0001336Myoclonus0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0001336HP:0001336Myoclonus0IRF4 CL E G H36626119ORPHA:3452Whipple diseaseHP:0040281 - Very frequent1
HP:0001336HP:0001336Myoclonus0JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0001336HP:0001336Myoclonus0JRK CL E G H86296199ORPHA:64280Childhood absence epilepsy
HP:0001336HP:0001336Myoclonus0JRK CL E G H86296199ORPHA:307Juvenile myoclonic epilepsy
HP:0001336HP:0001336Myoclonus0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional145
HP:0001336HP:0001336Myoclonus0KCNA2 CL E G H37376220OMIM:616366Epileptic encephalopathy, early infantile, 32.13
HP:0001336HP:0001336Myoclonus0KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0001336HP:0001336Myoclonus0KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional65
HP:0001336HP:0001336Myoclonus0KCNC1 CL E G H37466233OMIM:616187Epilepsy, progressive myoclonic 7.6
HP:0001336HP:0001336Myoclonus0KCNC2 CL E G H37476234OMIM:619913
HP:0001336HP:0001336Myoclonus0KCNC3 CL E G H37486235OMIM:605259Spinocerebellar ataxia 1317
HP:0001336HP:0001336Myoclonus0KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 13HP:0040283 - Occasional17
HP:0001336HP:0001336Myoclonus0KCND3 CL E G H37526239OMIM:607346Spinocerebellar ataxia 19.35
HP:0001336HP:0001336Myoclonus0KCNN2 CL E G H37816291OMIM:619724DYSTONIA 34, MYOCLONIC; DYT34
HP:0001336HP:0001336Myoclonus0KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0001336HP:0001336Myoclonus0KCNQ2 CL E G H37856296ORPHA:306Benign familial infantile epilepsy528
HP:0001336HP:0001336Myoclonus0KCNQ2 CL E G H37856296ORPHA:1949Benign familial neonatal epilepsy528
HP:0001336HP:0001336Myoclonus0KCNQ3 CL E G H37866297ORPHA:306Benign familial infantile epilepsy302
HP:0001336HP:0001336Myoclonus0KCNQ3 CL E G H37866297ORPHA:1949Benign familial neonatal epilepsy302
HP:0001336HP:0001336Myoclonus0KCNQ3 CL E G H37866297ORPHA:307Juvenile myoclonic epilepsy302
HP:0001336HP:0001336Myoclonus0KCTD17 CL E G H7973425705OMIM:616398Dystonia 26, myoclonic.1
HP:0001336HP:0001336Myoclonus0KCTD17 CL E G H7973425705ORPHA:36899Myoclonus-dystonia syndromeHP:0040281 - Very frequent1
HP:0001336HP:0001336Myoclonus0KCTD7 CL E G H15488121957ORPHA:263516Progressive myoclonic epilepsy type 3HP:0040282 - Frequent106
HP:0001336HP:0001336Myoclonus0KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to.202
HP:0001336HP:0001336Myoclonus0KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 5838
HP:0001336HP:0001336Myoclonus0KIF5A CL E G H37986323OMIM:617235Myoclonus, intractable, neonatal.93
HP:0001336HP:0001336Myoclonus0KMT2B CL E G H975715840OMIM:617284Dystonia 28, childhood-onsetHP:0040283 - Occasional11
HP:0001336HP:0001336Myoclonus0LIAS CL E G H1101916429OMIM:614462Hyperglycinemia, lactic acidosis, and seizures.31
HP:0001336HP:0001336Myoclonus0LIG3 CL E G H39806600OMIM:619780MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS201
HP:0001336HP:0001336Myoclonus0LMNB2 CL E G H848236638OMIM:616540Epilepsy, progressive myoclonic, 9.11
HP:0001336HP:0001336Myoclonus0MAPK10 CL E G H56026872ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent61
HP:0001336HP:0001336Myoclonus0MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndrome140
HP:0001336HP:0001336Myoclonus0MARCHF6 CL E G H1029930550ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040281 - Very frequent
HP:0001336HP:0001336Myoclonus0MARCHF6 CL E G H1029930550OMIM:613608Epilepsy, familial adult myoclonic, 3.HP:0003581 - Adult onset
HP:0001336HP:0001336Myoclonus0MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndrome950
HP:0001336HP:0001336Myoclonus0MECP2 CL E G H42046990OMIM:300673Encephalopathy, neonatal severe, due to mecp2 mutations.950
HP:0001336HP:0001336Myoclonus0MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities.6
HP:0001336HP:0001336Myoclonus0MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0001336HP:0001336Myoclonus0MINPP1 CL E G H95627102ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040283 - Occasional3
HP:0001336HP:0001336Myoclonus0MOCS1 CL E G H43377190OMIM:252150Molybdenum cofactor deficiency, complementation group A96
HP:0001336HP:0001336Myoclonus0MOCS2 CL E G H43387193OMIM:252160Molybdenum cofactor deficiency, complementation group B26
HP:0001336HP:0001336Myoclonus0MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorderHP:0040283 - Occasional532
HP:0001336HP:0001336Myoclonus0MTOR CL E G H24753942ORPHA:99802HemimegalencephalyHP:0040283 - Occasional68
HP:0001336HP:0001336Myoclonus0MTPAP CL E G H5514925532ORPHA:254343Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndromeHP:0040282 - Frequent19
HP:0001336HP:0001336Myoclonus0NAGA CL E G H46687631ORPHA:79279Alpha-N-acetylgalactosaminidase deficiency type 1HP:0040282 - Frequent47
HP:0001336HP:0001336Myoclonus0NAGA CL E G H46687631OMIM:609241Schindler disease, type I.47
HP:0001336HP:0001336Myoclonus0NARS1 CL E G H46777643OMIM:619092NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0001336HP:0001336Myoclonus0NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0001336HP:0001336Myoclonus0ND1 CL E G H45357455ORPHA:550MELASHP:0040282 - Frequent
HP:0001336HP:0001336Myoclonus0ND4 CL E G H45387459ORPHA:550MELASHP:0040282 - Frequent
HP:0001336HP:0001336Myoclonus0ND5 CL E G H45407461ORPHA:550MELASHP:0040282 - Frequent
HP:0001336HP:0001336Myoclonus0ND6 CL E G H45417462ORPHA:550MELASHP:0040282 - Frequent
HP:0001336HP:0001336Myoclonus0NDUFA4 CL E G H46977687OMIM:619065MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN214
HP:0001336HP:0001336Myoclonus0NDUFAF3 CL E G H2591529918OMIM:618240Mitochondrial complex I deficiency, nuclear type 18.31
HP:0001336HP:0001336Myoclonus0NDUFV1 CL E G H47237716OMIM:618225Mitochondrial complex I deficiency, nuclear type 4.74
HP:0001336HP:0001336Myoclonus0NECAP1 CL E G H2597724539ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0001336HP:0001336Myoclonus0NEU1 CL E G H47587758ORPHA:93400Congenital sialidosis type 2HP:0040283 - Occasional43
HP:0001336HP:0001336Myoclonus0NEU1 CL E G H47587758ORPHA:93399Juvenile sialidosis type 2HP:0040283 - Occasional43
HP:0001336HP:0001336Myoclonus0NEU1 CL E G H47587758OMIM:256550Neuraminidase deficiency.43
HP:0001336HP:0001336Myoclonus0NEU1 CL E G H47587758ORPHA:812Sialidosis type 1HP:0040281 - Very frequent43
HP:0001336HP:0001336Myoclonus0NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional
HP:0001336HP:0001336Myoclonus0NF2 CL E G H47717773ORPHA:2495Meningioma220
HP:0001336HP:0001336Myoclonus0NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction.
HP:0001336HP:0001336Myoclonus0NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 134
HP:0001336HP:0001336Myoclonus0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040283 - Occasional32
HP:0001336HP:0001336Myoclonus0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation.32
HP:0001336HP:0001336Myoclonus0NHLRC1 CL E G H37888421576ORPHA:501Lafora diseaseHP:0040283 - Occasional77
HP:0001336HP:0001336Myoclonus0NHLRC1 CL E G H37888421576OMIM:254780Myoclonic epilepsy of lafora.77
HP:0001336HP:0001336Myoclonus0NHLRC2 CL E G H37435424731OMIM:618278Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0001336HP:0001336Myoclonus0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040283 - Occasional51
HP:0001336HP:0001336Myoclonus0NOL3 CL E G H89967869OMIM:614937Myoclonus, familial cortical.1
HP:0001336HP:0001336Myoclonus0NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 369
HP:0001336HP:0001336Myoclonus0NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndrome1
HP:0001336HP:0001336Myoclonus0NTRK2 CL E G H49158032ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent8
HP:0001336HP:0001336Myoclonus0NTRK2 CL E G H49158032ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional8
HP:0001336HP:0001336Myoclonus0NUP214 CL E G H80218064OMIM:618426Encephalopathy, acute, infection-induced, susceptibility to, 9.1
HP:0001336HP:0001336Myoclonus0NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional7
HP:0001336HP:0001336Myoclonus0NUS1 CL E G H11615021042ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0001336HP:0001336Myoclonus0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040283 - Occasional121
HP:0001336HP:0001336Myoclonus0PARS2 CL E G H2597330563ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional14
HP:0001336HP:0001336Myoclonus0PCDH19 CL E G H5752614270ORPHA:33069Dravet syndromeHP:0040282 - Frequent225
HP:0001336HP:0001336Myoclonus0PDGFB CL E G H51558800ORPHA:2495Meningioma9
HP:0001336HP:0001336Myoclonus0PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency88
HP:0001336HP:0001336Myoclonus0PET100 CL E G H10013180140038OMIM:619055MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN126
HP:0001336HP:0001336Myoclonus0PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional8
HP:0001336HP:0001336Myoclonus0PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional20
HP:0001336HP:0001336Myoclonus0PGM3 CL E G H52388907OMIM:615816Immunodeficiency 2315
HP:0001336HP:0001336Myoclonus0PGM3 CL E G H52388907ORPHA:443811PGM3-CDGHP:0040283 - Occasional15
HP:0001336HP:0001336Myoclonus0PHACTR1 CL E G H22169220990ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent1
HP:0001336HP:0001336Myoclonus0PIGA CL E G H52778957ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent46
HP:0001336HP:0001336Myoclonus0PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0001336HP:0001336Myoclonus0PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional36
HP:0001336HP:0001336Myoclonus0PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional84
HP:0001336HP:0001336Myoclonus0PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional2
HP:0001336HP:0001336Myoclonus0PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0001336HP:0001336Myoclonus0PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional57
HP:0001336HP:0001336Myoclonus0PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional6
HP:0001336HP:0001336Myoclonus0PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional2
HP:0001336HP:0001336Myoclonus0PIK3CA CL E G H52908975ORPHA:99802HemimegalencephalyHP:0040283 - Occasional162
HP:0001336HP:0001336Myoclonus0PIK3CA CL E G H52908975ORPHA:2495Meningioma162
HP:0001336HP:0001336Myoclonus0PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonismHP:0040283 - Occasional133
HP:0001336HP:0001336Myoclonus0PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0001336HP:0001336Myoclonus0PLCB1 CL E G H2323615917ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent119
HP:0001336HP:0001336Myoclonus0PLPBP CL E G H112129457OMIM:617290Epilepsy, early-onset, vitamin b6-dependent.6
HP:0001336HP:0001336Myoclonus0PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional244
HP:0001336HP:0001336Myoclonus0PNPO CL E G H5516330260ORPHA:79096Pyridoxal phosphate-responsive seizuresHP:0040282 - Frequent92
HP:0001336HP:0001336Myoclonus0PNPO CL E G H5516330260OMIM:610090Pyridoxamine 5-prime-phosphate oxidase deficiency.92
HP:0001336HP:0001336Myoclonus0PODXL CL E G H54209171ORPHA:391411Atypical juvenile parkinsonismHP:0040283 - Occasional6
HP:0001336HP:0001336Myoclonus0POLG CL E G H54289179ORPHA:726Alpers-Huttenlocher syndromeHP:0040282 - Frequent464
HP:0001336HP:0001336Myoclonus0POLG CL E G H54289179OMIM:203700Mitochondrial DNA depletion syndrome 4A (Alpers type).464
HP:0001336HP:0001336Myoclonus0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.464
HP:0001336HP:0001336Myoclonus0POLG CL E G H54289179ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndromeHP:0040282 - Frequent464
HP:0001336HP:0001336Myoclonus0POLR1C CL E G H953320194OMIM:616494Leukodystrophy, hypomyelinating, 1138
HP:0001336HP:0001336Myoclonus0POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3.180
HP:0001336HP:0001336Myoclonus0PPP3CA CL E G H55309314ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0001336HP:0001336Myoclonus0PPT1 CL E G H55389325OMIM:256730Ceroid lipofuscinosis, neuronal, 1.172
HP:0001336HP:0001336Myoclonus0PRDM8 CL E G H5697813993ORPHA:324290Early-onset Lafora body diseaseHP:0040281 - Very frequent1
HP:0001336HP:0001336Myoclonus0PRDM8 CL E G H5697813993OMIM:616640Epilepsy, progressive myoclonic, 101
HP:0001336HP:0001336Myoclonus0PRDX3 CL E G H109359354OMIM:619862
HP:0001336HP:0001336Myoclonus0PRICKLE1 CL E G H14416517019ORPHA:308Progressive myoclonic epilepsy type 1HP:0040281 - Very frequent133
HP:0001336HP:0001336Myoclonus0PRKCG CL E G H55829402ORPHA:98763Spinocerebellar ataxia type 14HP:0040283 - Occasional83
HP:0001336HP:0001336Myoclonus0PRNP CL E G H56219449OMIM:123400Creutzfeldt-Jakob disease.69
HP:0001336HP:0001336Myoclonus0PRNP CL E G H56219449OMIM:600072Fatal familial insomnia.69
HP:0001336HP:0001336Myoclonus0PRNP CL E G H56219449OMIM:137440Gerstmann-Straussler disease.69
HP:0001336HP:0001336Myoclonus0PRNP CL E G H56219449ORPHA:356Gerstmann-Straussler-Scheinker syndrome69
HP:0001336HP:0001336Myoclonus0PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob diseaseHP:0040282 - Frequent69
HP:0001336HP:0001336Myoclonus0PRRT2 CL E G H11247630500ORPHA:306Benign familial infantile epilepsy94
HP:0001336HP:0001336Myoclonus0PSAP CL E G H56609498OMIM:611721Combined saposin deficiency.81
HP:0001336HP:0001336Myoclonus0PSAP CL E G H56609498ORPHA:139406Encephalopathy due to prosaposin deficiencyHP:0040281 - Very frequent81
HP:0001336HP:0001336Myoclonus0PSAP CL E G H56609498OMIM:610539Gaucher disease, atypical81
HP:0001336HP:0001336Myoclonus0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional81
HP:0001336HP:0001336Myoclonus0PSAT1 CL E G H2996819129OMIM:610992Phosphoserine aminotransferase deficiency27
HP:0001336HP:0001336Myoclonus0PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile formHP:0040283 - Occasional27
HP:0001336HP:0001336Myoclonus0PSEN1 CL E G H56639508OMIM:607822Alzheimer disease 3.241
HP:0001336HP:0001336Myoclonus0PSEN1 CL E G H56639508ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent241
HP:0001336HP:0001336Myoclonus0PSEN2 CL E G H56649509ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent59
HP:0001336HP:0001336Myoclonus0PTCD3 CL E G H5503724717OMIM:619057COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0001336HP:0001336Myoclonus0PTS CL E G H58059689ORPHA:136-pyruvoyl-tetrahydropterin synthase deficiencyHP:0040283 - Occasional19
HP:0001336HP:0001336Myoclonus0PURA CL E G H58139701OMIM:616158Mental retardation, autosomal dominant 31.53
HP:0001336HP:0001336Myoclonus0PURA CL E G H58139701ORPHA:314655Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletionHP:0040283 - Occasional53
HP:0001336HP:0001336Myoclonus0QDPR CL E G H58609752OMIM:261630Hyperphenylalaninemia, bh4-deficient, C.43
HP:0001336HP:0001336Myoclonus0RAPGEF2 CL E G H969316854OMIM:618075EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7; FAME7
HP:0001336HP:0001336Myoclonus0RFT1 CL E G H9186930220OMIM:612015Congenital disorder of glycosylation, type IN.92
HP:0001336HP:0001336Myoclonus0RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 11HP:0040283 - Occasional26
HP:0001336HP:0001336Myoclonus0RORA CL E G H609510258OMIM:618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA1
HP:0001336HP:0001336Myoclonus0RORB CL E G H609610259OMIM:618357Epilepsy, idiopathic generalized, susceptibility to, 15.3
HP:0001336HP:0001336Myoclonus0SAMD12 CL E G H40147431750ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040281 - Very frequent2
HP:0001336HP:0001336Myoclonus0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001336HP:0001336Myoclonus0SC5D CL E G H630910547ORPHA:46059LathosterolosisHP:0040282 - Frequent80
HP:0001336HP:0001336Myoclonus0SCARB2 CL E G H9501665OMIM:254900Epilepsy, progressive myoclonic, 4, with or without renal failure.77
HP:0001336HP:0001336Myoclonus0SCARB2 CL E G H9501665ORPHA:308Progressive myoclonic epilepsy type 1HP:0040281 - Very frequent77
HP:0001336HP:0001336Myoclonus0SCN1A CL E G H632310585OMIM:619317DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B1053
HP:0001336HP:0001336Myoclonus0SCN1A CL E G H632310585ORPHA:33069Dravet syndromeHP:0040282 - Frequent1053
HP:0001336HP:0001336Myoclonus0SCN1A CL E G H632310585ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent1053
HP:0001336HP:0001336Myoclonus0SCN1B CL E G H632410586ORPHA:33069Dravet syndromeHP:0040282 - Frequent126
HP:0001336HP:0001336Myoclonus0SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional126
HP:0001336HP:0001336Myoclonus0SCN2A CL E G H632610588ORPHA:306Benign familial infantile epilepsy427
HP:0001336HP:0001336Myoclonus0SCN2A CL E G H632610588ORPHA:33069Dravet syndromeHP:0040282 - Frequent427
HP:0001336HP:0001336Myoclonus0SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional427
HP:0001336HP:0001336Myoclonus0SCN2A CL E G H632610588ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent427
HP:0001336HP:0001336Myoclonus0SCN3A CL E G H632810590ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional70
HP:0001336HP:0001336Myoclonus0SCN8A CL E G H633410596ORPHA:306Benign familial infantile epilepsy357
HP:0001336HP:0001336Myoclonus0SCN8A CL E G H633410596OMIM:618364MYOCLONUS, FAMILIAL, 2; MYOCL2357
HP:0001336HP:0001336Myoclonus0SCN8A CL E G H633410596ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional357
HP:0001336HP:0001336Myoclonus0SCN9A CL E G H633510597ORPHA:33069Dravet syndromeHP:0040282 - Frequent318
HP:0001336HP:0001336Myoclonus0SDHA CL E G H638910680OMIM:252011Mitochondrial complex II deficiency.304
HP:0001336HP:0001336Myoclonus0SDHD CL E G H639210683OMIM:619167MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3129
HP:0001336HP:0001336Myoclonus0SEMA6B CL E G H1050110739OMIM:618876EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0001336HP:0001336Myoclonus0SERPINI1 CL E G H52748943OMIM:604218Encephalopathy, familial, with neuroserpin inclusion bodies.28
HP:0001336HP:0001336Myoclonus0SGCE CL E G H891010808OMIM:159900Dystonia 11, myoclonic.49
HP:0001336HP:0001336Myoclonus0SGCE CL E G H891010808ORPHA:36899Myoclonus-dystonia syndromeHP:0040281 - Very frequent49
HP:0001336HP:0001336Myoclonus0SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional11
HP:0001336HP:0001336Myoclonus0SIK1 CL E G H15009411142ORPHA:1935Early myoclonic encephalopathyHP:0040281 - Very frequent11
HP:0001336HP:0001336Myoclonus0SIK1 CL E G H15009411142ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent11
HP:0001336HP:0001336Myoclonus0SLC13A5 CL E G H28411123089ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional73
HP:0001336HP:0001336Myoclonus0SLC1A2 CL E G H650610940ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0001336HP:0001336Myoclonus0SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome4
HP:0001336HP:0001336Myoclonus0SLC25A10 CL E G H146810980OMIM:618972MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0001336HP:0001336Myoclonus0SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0001336HP:0001336Myoclonus0SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0001336HP:0001336Myoclonus0SLC25A22 CL E G H7975119954ORPHA:1935Early myoclonic encephalopathyHP:0040281 - Very frequent166
HP:0001336HP:0001336Myoclonus0SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB.14
HP:0001336HP:0001336Myoclonus0SLC25A46 CL E G H9113725198OMIM:619303PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E14
HP:0001336HP:0001336Myoclonus0SLC2A1 CL E G H651311005ORPHA:64280Childhood absence epilepsy255
HP:0001336HP:0001336Myoclonus0SLC2A1 CL E G H651311005ORPHA:71277Classic glucose transporter type 1 deficiency syndromeHP:0040283 - Occasional255
HP:0001336HP:0001336Myoclonus0SLC2A1 CL E G H651311005OMIM:606777Glut1 deficiency syndrome 1.255
HP:0001336HP:0001336Myoclonus0SLC2A3 CL E G H651511007ORPHA:399Huntington diseaseHP:0040282 - Frequent1
HP:0001336HP:0001336Myoclonus0SLC38A3 CL E G H1099118044ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001336HP:0001336Myoclonus0SLC6A1 CL E G H652911042OMIM:616421Myoclonic-Atonic epilepsy29
HP:0001336HP:0001336Myoclonus0SLC6A5 CL E G H915211051ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent81
HP:0001336HP:0001336Myoclonus0SLC6A5 CL E G H915211051OMIM:614618Hyperekplexia 381
HP:0001336HP:0001336Myoclonus0SLC7A6OS CL E G H8413825807OMIM:619191EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12
HP:0001336HP:0001336Myoclonus0SMARCB1 CL E G H659811103ORPHA:2495Meningioma87
HP:0001336HP:0001336Myoclonus0SMARCE1 CL E G H660511109ORPHA:2495Meningioma47
HP:0001336HP:0001336Myoclonus0SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndrome135
HP:0001336HP:0001336Myoclonus0SMO CL E G H660811119ORPHA:2495Meningioma22
HP:0001336HP:0001336Myoclonus0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040283 - Occasional19
HP:0001336HP:0001336Myoclonus0SNCA CL E G H662211138OMIM:168601Parkinson disease 1, autosomal dominant.65
HP:0001336HP:0001336Myoclonus0SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent65
HP:0001336HP:0001336Myoclonus0SORL1 CL E G H665311185ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent3
HP:0001336HP:0001336Myoclonus0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0001336HP:0001336Myoclonus0SPTAN1 CL E G H670911273ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent416
HP:0001336HP:0001336Myoclonus0ST3GAL3 CL E G H648710866ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent41
HP:0001336HP:0001336Myoclonus0ST3GAL5 CL E G H886910872OMIM:609056Salt and pepper developmental regression syndrome.47
HP:0001336HP:0001336Myoclonus0STAMBP CL E G H1061716950OMIM:614261Microcephaly-Capillary malformation syndrome.24
HP:0001336HP:0001336Myoclonus0STARD7 CL E G H5691018063OMIM:607876Epilepsy, familial adult myoclonic, 2
HP:0001336HP:0001336Myoclonus0STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1B86
HP:0001336HP:0001336Myoclonus0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040283 - Occasional60
HP:0001336HP:0001336Myoclonus0SUFU CL E G H5168416466ORPHA:2495Meningioma124
HP:0001336HP:0001336Myoclonus0SYNGAP1 CL E G H883111497ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional108
HP:0001336HP:0001336Myoclonus0SYNJ1 CL E G H886711503ORPHA:391411Atypical juvenile parkinsonismHP:0040283 - Occasional9
HP:0001336HP:0001336Myoclonus0SYNJ1 CL E G H886711503ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional9
HP:0001336HP:0001336Myoclonus0SZT2 CL E G H2333429040ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional123
HP:0001336HP:0001336Myoclonus0TAF1 CL E G H687211535OMIM:314250Dystonia 3, torsion, X-linked.21
HP:0001336HP:0001336Myoclonus0TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonismHP:0040282 - Frequent21
HP:0001336HP:0001336Myoclonus0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040283 - Occasional271
HP:0001336HP:0001336Myoclonus0TBC1D24 CL E G H5746529203OMIM:608105Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp.271
HP:0001336HP:0001336Myoclonus0TBC1D24 CL E G H5746529203OMIM:615338Epileptic encephalopathy, early infantile, 16.271
HP:0001336HP:0001336Myoclonus0TBC1D24 CL E G H5746529203ORPHA:352582Familial infantile myoclonic epilepsy271
HP:0001336HP:0001336Myoclonus0TBC1D24 CL E G H5746529203ORPHA:352596Progressive myoclonic epilepsy with dystoniaHP:0040281 - Very frequent271
HP:0001336HP:0001336Myoclonus0TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 17.7
HP:0001336HP:0001336Myoclonus0TERT CL E G H701511730ORPHA:2495Meningioma238
HP:0001336HP:0001336Myoclonus0TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent80
HP:0001336HP:0001336Myoclonus0TH CL E G H705411782OMIM:605407Segawa syndrome, autosomal recessive80
HP:0001336HP:0001336Myoclonus0THAP1 CL E G H5514520856OMIM:602629Dystonia 6, torsionHP:0040283 - Occasional42
HP:0001336HP:0001336Myoclonus0TIMMDC1 CL E G H513001321OMIM:618251MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN311
HP:0001336HP:0001336Myoclonus0TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 3HP:0040282 - Frequent33
HP:0001336HP:0001336Myoclonus0TNRC6A CL E G H2732711969OMIM:618074EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6
HP:0001336HP:0001336Myoclonus0TOE1 CL E G H11403415954ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040283 - Occasional6
HP:0001336HP:0001336Myoclonus0TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 7.6
HP:0001336HP:0001336Myoclonus0TOMM40 CL E G H1045218001ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent
HP:0001336HP:0001336Myoclonus0TOR1A CL E G H18613098ORPHA:36899Myoclonus-dystonia syndromeHP:0040281 - Very frequent47
HP:0001336HP:0001336Myoclonus0TPP1 CL E G H12002073OMIM:204500Ceroid lipofuscinosis, neuronal, 2.203
HP:0001336HP:0001336Myoclonus0TRAF7 CL E G H8423120456ORPHA:2495Meningioma
HP:0001336HP:0001336Myoclonus0TRAK1 CL E G H2290629947OMIM:618201Epileptic encephalopathy, early infantile, 68.
HP:0001336HP:0001336Myoclonus0TRAK1 CL E G H2290629947ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001336HP:0001336Myoclonus0TRAPPC12 CL E G H5111224284ORPHA:500144Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndromeHP:0040282 - Frequent2
HP:0001336HP:0001336Myoclonus0TRAPPC12 CL E G H5111224284OMIM:617669Encephalopathy, progressive, early-onset, with brain atrophy and spasticity.2
HP:0001336HP:0001336Myoclonus0TREM2 CL E G H5420917761ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent31
HP:0001336HP:0001336Myoclonus0TREM2 CL E G H5420917761OMIM:618193POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL231
HP:0001336HP:0001336Myoclonus0TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional1
HP:0001336HP:0001336Myoclonus0TRNF CL E G H45587481ORPHA:550MELASHP:0040282 - Frequent
HP:0001336HP:0001336Myoclonus0TRNF CL E G H45587481OMIM:545000Myoclonic epilepsy associated with ragged-red fibers.
HP:0001336HP:0001336Myoclonus0TRNH CL E G H45647487ORPHA:550MELASHP:0040282 - Frequent
HP:0001336HP:0001336Myoclonus0TRNI CL E G H45657488OMIM:545000Myoclonic epilepsy associated with ragged-red fibers.
HP:0001336HP:0001336Myoclonus0TRNK CL E G H45667489OMIM:545000Myoclonic epilepsy associated with ragged-red fibers.
HP:0001336HP:0001336Myoclonus0TRNL1 CL E G H45677490ORPHA:550MELASHP:0040282 - Frequent
HP:0001336HP:0001336Myoclonus0TRNL1 CL E G H45677490OMIM:545000Myoclonic epilepsy associated with ragged-red fibers.
HP:0001336HP:0001336Myoclonus0TRNP CL E G H45717494OMIM:545000Myoclonic epilepsy associated with ragged-red fibers.
HP:0001336HP:0001336Myoclonus0TRNQ CL E G H45727495ORPHA:550MELASHP:0040282 - Frequent
HP:0001336HP:0001336Myoclonus0TRNS1 CL E G H45747497ORPHA:550MELASHP:0040282 - Frequent
HP:0001336HP:0001336Myoclonus0TRNS2 CL E G H45757498ORPHA:550MELASHP:0040282 - Frequent
HP:0001336HP:0001336Myoclonus0TRNW CL E G H45787501ORPHA:550MELASHP:0040282 - Frequent
HP:0001336HP:0001336Myoclonus0TSEN54 CL E G H28398927561ORPHA:166063Pontocerebellar hypoplasia type 4HP:0040282 - Frequent102
HP:0001336HP:0001336Myoclonus0TSEN54 CL E G H28398927561OMIM:225753Pontocerebellar hypoplasia, type 4.102
HP:0001336HP:0001336Myoclonus0TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent2
HP:0001336HP:0001336Myoclonus0TSPYL1 CL E G H725912382ORPHA:168593Sudden infant death-dysgenesis of the testes syndromeHP:0040282 - Frequent1
HP:0001336HP:0001336Myoclonus0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.113
HP:0001336HP:0001336Myoclonus0TWNK CL E G H566521160ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndromeHP:0040282 - Frequent113
HP:0001336HP:0001336Myoclonus0TXN2 CL E G H2582817772ORPHA:478029Combined oxidative phosphorylation defect type 291
HP:0001336HP:0001336Myoclonus0TYROBP CL E G H730512449OMIM:221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy.22
HP:0001336HP:0001336Myoclonus0UBA5 CL E G H7987623230ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0001336HP:0001336Myoclonus0UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040283 - Occasional278
HP:0001336HP:0001336Myoclonus0VPS13D CL E G H5518723595ORPHA:95434Autosomal recessive cerebellar ataxia-movement disorder syndromeHP:0040283 - Occasional
HP:0001336HP:0001336Myoclonus0VPS13D CL E G H5518723595OMIM:607317Spinocerebellar ataxia, autosomal recessive 4.
HP:0001336HP:0001336Myoclonus0VPS41 CL E G H2707212713ORPHA:95434Autosomal recessive cerebellar ataxia-movement disorder syndromeHP:0040283 - Occasional
HP:0001336HP:0001336Myoclonus0VPS53 CL E G H5527525608OMIM:615851Pontocerebellar hypoplasia, type 2E26
HP:0001336HP:0001336Myoclonus0WDR45 CL E G H1115228912ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent51
HP:0001336HP:0001336Myoclonus0WWOX CL E G H5174112799ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional149
HP:0001336HP:0001336Myoclonus0YEATS2 CL E G H5568925489ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040281 - Very frequent1
HP:0001336HP:0001336Myoclonus0YEATS2 CL E G H5568925489OMIM:615127Epilepsy, familial adult myoclonic, 4.1
HP:0001336HP:0001336Myoclonus0YRDC CL E G H7969328905OMIM:619609GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0001336HP:0001336Myoclonus0YWHAG CL E G H753212852ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001336HP:0001336Myoclonus0ZNHIT3 CL E G H932612309OMIM:260565Peho syndrome.1
HP:0001336HP:0012323Sleep myoclonus1 CL E G H
HP:0001336HP:0045084Limb myoclonus1ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophyHP:0040283 - Occasional135
HP:0001336HP:0003739Myoclonic spasms1AKT1 CL E G H207391ORPHA:2495Meningioma54
HP:0001336HP:0025357Erratic myoclonus1ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1166
HP:0001336HP:0025097Eyelid myoclonus1ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndromeHP:0040283 - Occasional78
HP:0001336HP:0045084Limb myoclonus1ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndromeHP:0040283 - Occasional78
HP:0001336HP:0025097Eyelid myoclonus1ATP1A3 CL E G H478801OMIM:619606DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99150
HP:0001336HP:0003739Myoclonic spasms1ATP6 CL E G H45087414ORPHA:644NARP syndromeHP:0040282 - Frequent
HP:0001336HP:0025357Erratic myoclonus1ATP6V0A1 CL E G H535865OMIM:6199711
HP:0001336HP:0003739Myoclonic spasms1BAP1 CL E G H8314950ORPHA:2495Meningioma184
HP:0001336HP:0003739Myoclonic spasms1BRAT1 CL E G H22192721701OMIM:614498Rigidity and multifocal seizure syndrome, lethal neonatal.20
HP:0001336HP:0045084Limb myoclonus1CACNA1H CL E G H89121395ORPHA:64280Childhood absence epilepsyHP:0040284 - Very rare75
HP:0001336HP:0007000Morning myoclonic jerks1CACNB4 CL E G H7851404OMIM:607682Epilepsy, idiopathic generalized, susceptibility to, 9.146
HP:0001336HP:0007000Morning myoclonic jerks1CACNB4 CL E G H7851404ORPHA:307Juvenile myoclonic epilepsyHP:0040281 - Very frequent146
HP:0001336HP:0040148Cortical myoclonus1CASR CL E G H8461514ORPHA:428Autosomal dominant hypocalcemiaHP:0040281 - Very frequent272
HP:0001336HP:0045084Limb myoclonus1CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent405
HP:0001336HP:0034360Action myoclonus1CERS1 CL E G H1071514253OMIM:616230Epilepsy, progressive myoclonic, 81
HP:0001336HP:0007000Morning myoclonic jerks1CILK1 CL E G H2285821219ORPHA:307Juvenile myoclonic epilepsyHP:0040281 - Very frequent
HP:0001336HP:0007000Morning myoclonic jerks1CLCN2 CL E G H11812020ORPHA:307Juvenile myoclonic epilepsyHP:0040281 - Very frequent44
HP:0001336HP:0045084Limb myoclonus1CPLX1 CL E G H108152309ORPHA:352582Familial infantile myoclonic epilepsyHP:0040283 - Occasional1
HP:0001336HP:0007000Morning myoclonic jerks1CSTB CL E G H14762482ORPHA:308Progressive myoclonic epilepsy type 1HP:0040281 - Very frequent51
HP:0001336HP:0010530Palatal tremor1CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040284 - Very rare114
HP:0001336HP:0025097Eyelid myoclonus1DHFR CL E G H17192861OMIM:613839Megaloblastic anemia due to dihydrofolate reductase deficiency.7
HP:0001336HP:0010531Spinal myoclonus1DRD2 CL E G H18133023ORPHA:36899Myoclonus-dystonia syndromeHP:0040281 - Very frequent16
HP:0001336HP:0045084Limb myoclonus1DRD2 CL E G H18133023ORPHA:36899Myoclonus-dystonia syndromeHP:0040281 - Very frequent16
HP:0001336HP:0007000Morning myoclonic jerks1EFHC1 CL E G H11432716406ORPHA:307Juvenile myoclonic epilepsyHP:0040281 - Very frequent153
HP:0001336HP:0007000Morning myoclonic jerks1EFHC1 CL E G H11432716406OMIM:254770Myoclonic epilepsy, juvenile, susceptibility to, 1.153
HP:0001336HP:0025357Erratic myoclonus1EPM2A CL E G H79573413ORPHA:501Lafora diseaseHP:0040282 - Frequent83
HP:0001336HP:0010530Palatal tremor1FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040283 - Occasional33
HP:0001336HP:0045084Limb myoclonus1GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent5
HP:0001336HP:0045084Limb myoclonus1GABRA1 CL E G H25544075ORPHA:64280Childhood absence epilepsyHP:0040284 - Very rare134
HP:0001336HP:0007000Morning myoclonic jerks1GABRA1 CL E G H25544075ORPHA:307Juvenile myoclonic epilepsyHP:0040281 - Very frequent134
HP:0001336HP:0045084Limb myoclonus1GABRB3 CL E G H25624083ORPHA:64280Childhood absence epilepsyHP:0040284 - Very rare57
HP:0001336HP:0007000Morning myoclonic jerks1GABRD CL E G H25634084ORPHA:307Juvenile myoclonic epilepsyHP:0040281 - Very frequent10
HP:0001336HP:0045084Limb myoclonus1GABRG2 CL E G H25664087ORPHA:64280Childhood absence epilepsyHP:0040284 - Very rare139
HP:0001336HP:0010530Palatal tremor1GFAP CL E G H26704235OMIM:203450Alexander disease188
HP:0001336HP:0010530Palatal tremor1GFAP CL E G H26704235ORPHA:363717Alexander disease type I188
HP:0001336HP:0010530Palatal tremor1GFAP CL E G H26704235ORPHA:363722Alexander disease type II188
HP:0001336HP:0040148Cortical myoclonus1GNA11 CL E G H27674379ORPHA:428Autosomal dominant hypocalcemiaHP:0040281 - Very frequent16
HP:0001336HP:0003739Myoclonic spasms1GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0001336HP:0003739Myoclonic spasms1GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040283 - Occasional101
HP:0001336HP:0003739Myoclonic spasms1GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040283 - Occasional101
HP:0001336HP:0025097Eyelid myoclonus1GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyriaHP:0040283 - Occasional108
HP:0001336HP:0003739Myoclonic spasms1INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0001336HP:0031986Polyminimyoclonus1JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0001336HP:0045084Limb myoclonus1JRK CL E G H86296199ORPHA:64280Childhood absence epilepsyHP:0040284 - Very rare
HP:0001336HP:0007000Morning myoclonic jerks1JRK CL E G H86296199ORPHA:307Juvenile myoclonic epilepsyHP:0040281 - Very frequent
HP:0001336HP:0025097Eyelid myoclonus1KCNC2 CL E G H37476234OMIM:619913
HP:0001336HP:0045084Limb myoclonus1KCNQ2 CL E G H37856296ORPHA:306Benign familial infantile epilepsyHP:0040283 - Occasional528
HP:0001336HP:0045084Limb myoclonus1KCNQ2 CL E G H37856296ORPHA:1949Benign familial neonatal epilepsyHP:0040282 - Frequent528
HP:0001336HP:0045084Limb myoclonus1KCNQ3 CL E G H37866297ORPHA:306Benign familial infantile epilepsyHP:0040283 - Occasional302
HP:0001336HP:0045084Limb myoclonus1KCNQ3 CL E G H37866297ORPHA:1949Benign familial neonatal epilepsyHP:0040282 - Frequent302
HP:0001336HP:0007000Morning myoclonic jerks1KCNQ3 CL E G H37866297ORPHA:307Juvenile myoclonic epilepsyHP:0040281 - Very frequent302
HP:0001336HP:0010531Spinal myoclonus1KCTD17 CL E G H7973425705ORPHA:36899Myoclonus-dystonia syndromeHP:0040281 - Very frequent1
HP:0001336HP:0045084Limb myoclonus1KCTD17 CL E G H7973425705ORPHA:36899Myoclonus-dystonia syndromeHP:0040281 - Very frequent1
HP:0001336HP:0012462Chin myoclonus1KCTD7 CL E G H15488121957ORPHA:263516Progressive myoclonic epilepsy type 3HP:0040283 - Occasional106
HP:0001336HP:0045084Limb myoclonus1KCTD7 CL E G H15488121957ORPHA:263516Progressive myoclonic epilepsy type 3HP:0040283 - Occasional106
HP:0001336HP:0025357Erratic myoclonus1KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040282 - Frequent38
HP:0001336HP:0045084Limb myoclonus1MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndromeHP:0040282 - Frequent140
HP:0001336HP:0045084Limb myoclonus1MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent950
HP:0001336HP:0003739Myoclonic spasms1MOCS1 CL E G H43377190OMIM:252150Molybdenum cofactor deficiency, complementation group A.96
HP:0001336HP:0003739Myoclonic spasms1MOCS2 CL E G H43387193OMIM:252160Molybdenum cofactor deficiency, complementation group B.26
HP:0001336HP:0003739Myoclonic spasms1NF2 CL E G H47717773ORPHA:2495Meningioma220
HP:0001336HP:0025357Erratic myoclonus1NHLRC1 CL E G H37888421576ORPHA:501Lafora diseaseHP:0040282 - Frequent77
HP:0001336HP:0045084Limb myoclonus1NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 36HP:0040284 - Very rare9
HP:0001336HP:0045084Limb myoclonus1NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent1
HP:0001336HP:0003739Myoclonic spasms1PDGFB CL E G H51558800ORPHA:2495Meningioma9
HP:0001336HP:0040148Cortical myoclonus1PGM3 CL E G H52388907OMIM:615816Immunodeficiency 2315
HP:0001336HP:0040148Cortical myoclonus1PGM3 CL E G H52388907ORPHA:443811PGM3-CDGHP:0040283 - Occasional15
HP:0001336HP:0003739Myoclonic spasms1PIK3CA CL E G H52908975ORPHA:2495Meningioma162
HP:0001336HP:0025097Eyelid myoclonus1PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0001336HP:0045084Limb myoclonus1PRDX3 CL E G H109359354OMIM:619862
HP:0001336HP:0007000Morning myoclonic jerks1PRICKLE1 CL E G H14416517019ORPHA:308Progressive myoclonic epilepsy type 1HP:0040281 - Very frequent133
HP:0001336HP:0045084Limb myoclonus1PRNP CL E G H56219449ORPHA:356Gerstmann-Straussler-Scheinker syndromeHP:0040283 - Occasional69
HP:0001336HP:0045084Limb myoclonus1PRRT2 CL E G H11247630500ORPHA:306Benign familial infantile epilepsyHP:0040283 - Occasional94
HP:0001336HP:0040148Cortical myoclonus1RAPGEF2 CL E G H969316854OMIM:618075EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7; FAME7
HP:0001336HP:0025097Eyelid myoclonus1RORA CL E G H609510258OMIM:618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA1
HP:0001336HP:0025097Eyelid myoclonus1RORB CL E G H609610259OMIM:618357Epilepsy, idiopathic generalized, susceptibility to, 15.3
HP:0001336HP:0007000Morning myoclonic jerks1SCARB2 CL E G H9501665ORPHA:308Progressive myoclonic epilepsy type 1HP:0040281 - Very frequent77
HP:0001336HP:0045084Limb myoclonus1SCN2A CL E G H632610588ORPHA:306Benign familial infantile epilepsyHP:0040283 - Occasional427
HP:0001336HP:0045084Limb myoclonus1SCN8A CL E G H633410596ORPHA:306Benign familial infantile epilepsyHP:0040283 - Occasional357
HP:0001336HP:0045084Limb myoclonus1SCN8A CL E G H633410596OMIM:618364MYOCLONUS, FAMILIAL, 2; MYOCL2357
HP:0001336HP:0010531Spinal myoclonus1SGCE CL E G H891010808ORPHA:36899Myoclonus-dystonia syndromeHP:0040281 - Very frequent49
HP:0001336HP:0045084Limb myoclonus1SGCE CL E G H891010808ORPHA:36899Myoclonus-dystonia syndromeHP:0040281 - Very frequent49
HP:0001336HP:0003739Myoclonic spasms1SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndromeHP:0040283 - Occasional4
HP:0001336HP:0045084Limb myoclonus1SLC2A1 CL E G H651311005ORPHA:64280Childhood absence epilepsyHP:0040284 - Very rare255
HP:0001336HP:0025097Eyelid myoclonus1SLC6A1 CL E G H652911042OMIM:616421Myoclonic-Atonic epilepsy.29
HP:0001336HP:0003739Myoclonic spasms1SMARCB1 CL E G H659811103ORPHA:2495Meningioma87
HP:0001336HP:0003739Myoclonic spasms1SMARCE1 CL E G H660511109ORPHA:2495Meningioma47
HP:0001336HP:0045084Limb myoclonus1SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent135
HP:0001336HP:0003739Myoclonic spasms1SMO CL E G H660811119ORPHA:2495Meningioma22
HP:0001336HP:0003739Myoclonic spasms1STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040283 - Occasional86
HP:0001336HP:0003739Myoclonic spasms1SUFU CL E G H5168416466ORPHA:2495Meningioma124
HP:0001336HP:0045084Limb myoclonus1TBC1D24 CL E G H5746529203ORPHA:352582Familial infantile myoclonic epilepsyHP:0040283 - Occasional271
HP:0001336HP:0003739Myoclonic spasms1TERT CL E G H701511730ORPHA:2495Meningioma238
HP:0001336HP:0040148Cortical myoclonus1TNRC6A CL E G H2732711969OMIM:618074EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6
HP:0001336HP:0010531Spinal myoclonus1TOR1A CL E G H18613098ORPHA:36899Myoclonus-dystonia syndromeHP:0040281 - Very frequent47
HP:0001336HP:0045084Limb myoclonus1TOR1A CL E G H18613098ORPHA:36899Myoclonus-dystonia syndromeHP:0040281 - Very frequent47
HP:0001336HP:0003739Myoclonic spasms1TRAF7 CL E G H8423120456ORPHA:2495Meningioma
HP:0001336HP:0003739Myoclonic spasms1TXN2 CL E G H2582817772ORPHA:478029Combined oxidative phosphorylation defect type 29HP:0040281 - Very frequent1
HP:0001336HP:0010828Hemifacial spasm2AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040284 - Very rare54
HP:0001336HP:0010828Hemifacial spasm2BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040284 - Very rare184
HP:0001336HP:0010828Hemifacial spasm2INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1.111
HP:0001336HP:0010828Hemifacial spasm2NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040284 - Very rare220
HP:0001336HP:0010828Hemifacial spasm2PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040284 - Very rare9
HP:0001336HP:0010828Hemifacial spasm2PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040284 - Very rare162
HP:0001336HP:0033054Myoclonic tremor2RAPGEF2 CL E G H969316854OMIM:618075EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7; FAME7
HP:0001336HP:0010828Hemifacial spasm2SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040284 - Very rare87
HP:0001336HP:0010828Hemifacial spasm2SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040284 - Very rare47
HP:0001336HP:0010828Hemifacial spasm2SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040284 - Very rare22
HP:0001336HP:0010828Hemifacial spasm2SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040284 - Very rare124
HP:0001336HP:0010828Hemifacial spasm2TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040284 - Very rare238
HP:0001336HP:0033054Myoclonic tremor2TNRC6A CL E G H2732711969OMIM:618074EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6
HP:0001336HP:0010828Hemifacial spasm2TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040284 - Very rare


Genes (352) :AARS1 ABCA7 ABCD1 ACTL6B ADAR ADCY5 ADRA2B ADSL AFF3 AFG3L2 AKT1 AKT3 AMT ANO3 AP2M1 AP3B2 AP5Z1 APOE APP ARV1 ARX ASAH1 ATAD1 ATM ATN1 ATP13A2 ATP1A2 ATP1A3 ATP6 ATP6V0A1 ATP6V1A ATP6V1B2 ATXN2 BAP1 BOLA3 BRAT1 BSCL2 C9ORF72 CACNA1A CACNA1B CACNA1E CACNA1H CACNA2D1 CACNB4 CARS2 CASK CASR CCDC88A CDK19 CDKL5 CELF2 CERS1 CHD2 CHMP2B CIC CILK1 CIZ1 CLCN2 CLCN4 CLN3 CLN5 CLN6 CLN8 CLPB CLTC CNKSR2 CNPY3 CNTN2 COG8 COQ2 COQ5 COQ8A COX1 COX2 COX3 COX4I1 CPLX1 CSTB CTNND2 CTSF CUX2 CYFIP2 CYP27A1 DAB1 DALRD3 DDC DENND5A DHDDS DHFR DMXL2 DNAJC5 DNAJC6 DNM1 DOCK7 DRD2 DTYMK EEF1A2 EFHC1 EIF2AK2 EPM2A FARS2 FBXO28 FBXO7 FGF12 FGF13 FOXRED1 FRMD5 FRRS1L FTL FZR1 GABBR2 GABRA1 GABRA2 GABRA5 GABRB2 GABRB3 GABRD GABRG2 GALC GAMT GBA1 GCSH GFAP GLDC GLRA1 GLRB GLRX5 GLYCTK GNA11 GNAO1 GNAS GNB1 GOSR2 GPHN GRIA3 GRIK2 GRIN1 GRIN2A GRIN2B GRIN2D GRM7 GUF1 HCN1 HEXB HIBCH HLA-DQB1 HMGCL HNRNPU HTT INPP5E IRF4 JAG1 JRK KCNA1 KCNA2 KCNB1 KCNC1 KCNC2 KCNC3 KCND3 KCNN2 KCNQ2 KCNQ3 KCTD17 KCTD7 KIF1B KIF1C KIF5A KMT2B LIAS LIG3 LMNB2 MAPK10 MAPT MARCHF6 MECP2 MECR MINPP1 MOCS1 MOCS2 MRE11 MTOR MTPAP NAGA NARS1 NAXD ND1 ND4 ND5 ND6 NDUFA4 NDUFAF3 NDUFV1 NECAP1 NEU1 NEUROD2 NF2 NFASC NFU1 NGLY1 NHLRC1 NHLRC2 NKX2-1 NOL3 NOP56 NTNG1 NTRK2 NUP214 NUP62 NUS1 OCA2 PARS2 PCDH19 PDGFB PDHA1 PET100 PGAP2 PGAP3 PGM3 PHACTR1 PIGA PIGL PIGO PIGP PIGQ PIGV PIGW PIGY PIK3CA PLA2G6 PLCB1 PLPBP PNKP PNPO PODXL POLG POLR1C POMGNT1 PPP3CA PPT1 PRDM8 PRDX3 PRICKLE1 PRKCG PRNP PRRT2 PSAP PSAT1 PSEN1 PSEN2 PTCD3 PTS PURA QDPR RAPGEF2 RFT1 RMND1 RORA RORB SAMD12 SATB1 SC5D SCARB2 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SDHA SDHD SEMA6B SERPINI1 SGCE SIK1 SLC13A5 SLC1A2 SLC1A4 SLC25A10 SLC25A12 SLC25A22 SLC25A46 SLC2A1 SLC2A3 SLC38A3 SLC6A1 SLC6A5 SLC7A6OS SMARCB1 SMARCE1 SMC1A SMO SMS SNCA SORL1 SOX10 SPTAN1 ST3GAL3 ST3GAL5 STAMBP STARD7 STX16 SUCLG1 SUFU SYNGAP1 SYNJ1 SZT2 TAF1 TBC1D24 TBP TERT TH THAP1 TIMMDC1 TMEM231 TNRC6A TOE1 TOMM40 TOR1A TPP1 TRAF7 TRAK1 TRAPPC12 TREM2 TRIM8 TRNF TRNH TRNI TRNK TRNL1 TRNP TRNQ TRNS1 TRNS2 TRNW TSEN54 TSPOAP1 TSPYL1 TWNK TXN2 TYROBP UBA5 UBE3A VPS13D VPS41 VPS53 WDR45 WWOX YEATS2 YRDC YWHAG ZNHIT3

Diseases (290) :ORPHA:442835 ORPHA:1020 ORPHA:139396 ORPHA:225154 OMIM:619647 OMIM:606703 ORPHA:324588 OMIM:619651 ORPHA:86814 OMIM:103050 OMIM:619297 ORPHA:313772 OMIM:614487 ORPHA:2495 ORPHA:99802 OMIM:605899 ORPHA:420485 OMIM:618587 ORPHA:306511 OMIM:607822 ORPHA:324708 OMIM:308350 ORPHA:1934 ORPHA:3451 ORPHA:333 OMIM:159950 ORPHA:2590 ORPHA:3197 OMIM:618011 OMIM:208900 ORPHA:101 OMIM:125370 ORPHA:314632 ORPHA:306674 OMIM:606693 OMIM:619606 ORPHA:644 OMIM:619971 ORPHA:79500 OMIM:183090 OMIM:614299 OMIM:614498 OMIM:615924 ORPHA:363400 ORPHA:401901 ORPHA:2382 OMIM:618497 OMIM:618285 ORPHA:64280 OMIM:607682 OMIM:613855 ORPHA:307 OMIM:616672 ORPHA:428 OMIM:617507 ORPHA:3095 OMIM:300672 OMIM:616230 OMIM:600795 OMIM:617600 ORPHA:420492 ORPHA:485350 OMIM:204200 OMIM:256731 OMIM:204300 OMIM:600143 ORPHA:445038 OMIM:616271 OMIM:617854 ORPHA:95428 OMIM:607426 OMIM:619028 ORPHA:139485 OMIM:612016 ORPHA:550 OMIM:619060 ORPHA:352582 OMIM:254800 ORPHA:308 OMIM:615362 ORPHA:909 ORPHA:363710 OMIM:608643 OMIM:617281 OMIM:613839 OMIM:162350 ORPHA:391411 ORPHA:411986 ORPHA:36899 OMIM:619847 ORPHA:1941 OMIM:254770 OMIM:618877 ORPHA:501 OMIM:254780 ORPHA:466722 OMIM:614946 OMIM:619777 ORPHA:171695 OMIM:618241 OMIM:620094 OMIM:616981 ORPHA:157846 ORPHA:33069 OMIM:617829 ORPHA:206436 OMIM:612736 OMIM:231000 OMIM:203450 ORPHA:363717 ORPHA:363722 OMIM:149400 OMIM:614619 ORPHA:401866 OMIM:220120 ORPHA:941 ORPHA:79443 ORPHA:94089 ORPHA:79444 OMIM:616973 OMIM:614018 OMIM:300699 ORPHA:364028 OMIM:611092 ORPHA:208447 OMIM:619814 OMIM:614254 ORPHA:289266 OMIM:616139 OMIM:617065 ORPHA:309155 OMIM:250620 OMIM:123400 ORPHA:20 OMIM:246450 OMIM:617391 ORPHA:399 ORPHA:248111 OMIM:213300 ORPHA:3452 OMIM:619574 OMIM:616366 OMIM:616187 OMIM:619913 OMIM:605259 ORPHA:98768 OMIM:607346 OMIM:619724 OMIM:619725 ORPHA:306 ORPHA:1949 OMIM:616398 ORPHA:263516 OMIM:256700 ORPHA:397946 OMIM:617235 OMIM:617284 OMIM:614462 OMIM:619780 OMIM:616540 ORPHA:240103 OMIM:613608 OMIM:300673 OMIM:617282 ORPHA:508093 ORPHA:284339 OMIM:252150 OMIM:252160 ORPHA:251347 ORPHA:254343 ORPHA:79279 OMIM:609241 OMIM:619092 OMIM:618321 OMIM:619065 OMIM:618240 OMIM:618225 ORPHA:93400 ORPHA:93399 OMIM:256550 ORPHA:812 OMIM:618356 OMIM:605711 ORPHA:404454 OMIM:615273 OMIM:618278 ORPHA:209905 OMIM:614937 ORPHA:276198 OMIM:618426 ORPHA:98794 OMIM:312170 OMIM:619055 ORPHA:247262 OMIM:615816 ORPHA:443811 OMIM:301072 ORPHA:199351 OMIM:612953 OMIM:617290 ORPHA:79096 OMIM:610090 ORPHA:726 OMIM:203700 OMIM:607459 ORPHA:70595 OMIM:616494 OMIM:253280 OMIM:256730 ORPHA:324290 OMIM:616640 OMIM:619862 ORPHA:98763 OMIM:600072 OMIM:137440 ORPHA:356 ORPHA:282166 OMIM:611721 ORPHA:139406 OMIM:610539 OMIM:610992 ORPHA:284417 OMIM:619057 ORPHA:13 OMIM:616158 ORPHA:314655 OMIM:261630 OMIM:618075 OMIM:612015 OMIM:614922 OMIM:618060 OMIM:618357 OMIM:619229 ORPHA:46059 OMIM:254900 OMIM:619317 OMIM:618364 OMIM:252011 OMIM:619167 OMIM:618876 OMIM:604218 OMIM:159900 ORPHA:1935 ORPHA:447997 OMIM:618972 OMIM:612949 OMIM:616505 OMIM:619303 ORPHA:71277 OMIM:606777 OMIM:616421 OMIM:614618 OMIM:619191 ORPHA:3063 OMIM:168601 OMIM:609136 OMIM:609056 OMIM:614261 OMIM:607876 ORPHA:17 OMIM:314250 ORPHA:53351 OMIM:608105 OMIM:615338 ORPHA:352596 OMIM:607136 ORPHA:101150 OMIM:605407 OMIM:602629 OMIM:618251 ORPHA:2752 OMIM:618074 OMIM:614969 OMIM:204500 OMIM:618201 ORPHA:500144 OMIM:617669 OMIM:618193 OMIM:545000 ORPHA:166063 OMIM:225753 ORPHA:168593 ORPHA:478029 OMIM:221770 ORPHA:95434 OMIM:607317 OMIM:615851 OMIM:615127 OMIM:619609 OMIM:260565
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.