Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
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Abnormality of movement (HP:0100022)help
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Muscle fibrillation (HP:0010546)help
Term ID: 10546
Name: Muscle fibrillation
Synonym: EMG: fibrillations on electromyogram; Twitching
Definition: Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG.
Comments:
Reference: HP:0010546
Genes and Diseases:
 
       Child Nodes:
........expandTongue fasciculations (HP:0001308) help
........expandFacial-lingual fasciculations (HP:0007089) help
........expandLimb fasciculations (HP:0007289) help

 Sister Nodes: 
..expandAbnormal head movements (HP:0002457) help
..expandAbnormal posturing (HP:0002533) help
..expandAbnormal reflex (HP:0031826) help
..expandAstasia (HP:0020037) help
..expandAsterixis (HP:0012164) help
..expandBimanual synkinesia (HP:0001335) help
..expandCerebral palsy (HP:0100021) help
..expandDiminished movement (HP:0002374) help
..expandDyskinesia (HP:0100660) help
..expandDystonia (HP:0001332) help
..expandFrontal release signs (HP:0000743) help
..expandGait disturbance (HP:0001288) help
..expandHyperactivity (HP:0000752) help
..expandHyperkinetic movements (HP:0002487) help
..expandInvoluntary movements (HP:0004305) help
..expandMyokymia (HP:0002411) help
..expandPostural instability (HP:0002172) help
..expandPrimitive reflex (HP:0002476) help
..expandStooped posture (HP:0025403) 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:0010546HP:0010546Muscle fibrillation0ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0010546HP:0010546Muscle fibrillation0AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy1
HP:0010546HP:0010546Muscle fibrillation0AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0010546HP:0010546Muscle fibrillation0AIFM1 CL E G H91318768OMIM:300816Combined oxidative phosphorylation deficiency 660
HP:0010546HP:0010546Muscle fibrillation0AIFM1 CL E G H91318768ORPHA:238329Severe X-linked mitochondrial encephalomyopathy60
HP:0010546HP:0010546Muscle fibrillation0ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy78
HP:0010546HP:0010546Muscle fibrillation0ATP11A CL E G H2325013552OMIM:619851LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0010546HP:0010546Muscle fibrillation0ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraine239
HP:0010546HP:0010546Muscle fibrillation0ATXN10 CL E G H2581410549OMIM:603516Spinocerebellar ataxia 109
HP:0010546HP:0010546Muscle fibrillation0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease14
HP:0010546HP:0010546Muscle fibrillation0ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 114
HP:0010546HP:0010546Muscle fibrillation0ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 214
HP:0010546HP:0010546Muscle fibrillation0ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 314
HP:0010546HP:0010546Muscle fibrillation0BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent99
HP:0010546HP:0010546Muscle fibrillation0CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraine449
HP:0010546HP:0010546Muscle fibrillation0CCNF CL E G H8991591OMIM:619141FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0010546HP:0010546Muscle fibrillation0CFL2 CL E G H10731875OMIM:610687Nemaline myopathy 735
HP:0010546HP:0010546Muscle fibrillation0CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onset11
HP:0010546HP:0010546Muscle fibrillation0DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent167
HP:0010546HP:0010546Muscle fibrillation0DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0010546HP:0010546Muscle fibrillation0DYSF CL E G H82913097OMIM:254130Miyoshi muscular dystrophy 1.600
HP:0010546HP:0010546Muscle fibrillation0EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas58
HP:0010546HP:0010546Muscle fibrillation0EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0010546HP:0010546Muscle fibrillation0EXOSC3 CL E G H5101017944OMIM:614678Pontocerebellar hypoplasia, type 1B38
HP:0010546HP:0010546Muscle fibrillation0EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0010546HP:0010546Muscle fibrillation0EXOSC8 CL E G H1134017035OMIM:616081Pontocerebellar hypoplasia, type 1C4
HP:0010546HP:0010546Muscle fibrillation0EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0010546HP:0010546Muscle fibrillation0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D
HP:0010546HP:0010546Muscle fibrillation0FXR1 CL E G H80874023OMIM:618823MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0010546HP:0010546Muscle fibrillation0FXR1 CL E G H80874023OMIM:618822MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0010546HP:0010546Muscle fibrillation0GARS1 CL E G H26174162OMIM:619042SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0010546HP:0010546Muscle fibrillation0GYG1 CL E G H29924699OMIM:616199Polyglucosan body myopathy 218
HP:0010546HP:0010546Muscle fibrillation0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotonia12
HP:0010546HP:0010546Muscle fibrillation0HSPB1 CL E G H33155246ORPHA:99940Autosomal dominant Charcot-Marie-Tooth disease type 2F47
HP:0010546HP:0010546Muscle fibrillation0IFRD1 CL E G H34755456ORPHA:98771Spinocerebellar ataxia type 18HP:0040282 - Frequent1
HP:0010546HP:0010546Muscle fibrillation0KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel type4
HP:0010546HP:0010546Muscle fibrillation0LGI3 CL E G H20319018711OMIM:620007
HP:0010546HP:0010546Muscle fibrillation0MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset158
HP:0010546HP:0010546Muscle fibrillation0MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas134
HP:0010546HP:0010546Muscle fibrillation0MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent7
HP:0010546HP:0010546Muscle fibrillation0MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0010546HP:0010546Muscle fibrillation0MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent19
HP:0010546HP:0010546Muscle fibrillation0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0010546HP:0010546Muscle fibrillation0NOP56 CL E G H1052815911OMIM:614153Spinocerebellar ataxia 369
HP:0010546HP:0010546Muscle fibrillation0NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 369
HP:0010546HP:0010546Muscle fibrillation0OPTN CL E G H1013317142OMIM:613435Amyotrophic lateral sclerosis 1262
HP:0010546HP:0010546Muscle fibrillation0PMP22 CL E G H53769118OMIM:145900Hypertrophic neuropathy of dejerine-sottas79
HP:0010546HP:0010546Muscle fibrillation0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0010546HP:0010546Muscle fibrillation0PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraine94
HP:0010546HP:0010546Muscle fibrillation0PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0010546HP:0010546Muscle fibrillation0PRX CL E G H5771613797OMIM:145900Hypertrophic neuropathy of dejerine-sottas170
HP:0010546HP:0010546Muscle fibrillation0RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 1126
HP:0010546HP:0010546Muscle fibrillation0RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent1200
HP:0010546HP:0010546Muscle fibrillation0SBF1 CL E G H630510542OMIM:615284Charcot-Marie-Tooth disease, type 4B316
HP:0010546HP:0010546Muscle fibrillation0SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraine1053
HP:0010546HP:0010546Muscle fibrillation0SETX CL E G H23064445OMIM:602433Amyotrophic lateral sclerosis 4, juvenile162
HP:0010546HP:0010546Muscle fibrillation0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4C493
HP:0010546HP:0010546Muscle fibrillation0SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C493
HP:0010546HP:0010546Muscle fibrillation0SLC25A21 CL E G H8987414411OMIM:618811MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0010546HP:0010546Muscle fibrillation0SLC25A46 CL E G H9113725198ORPHA:2254Pontocerebellar hypoplasia type 114
HP:0010546HP:0010546Muscle fibrillation0SLC52A2 CL E G H7958130224OMIM:614707Brown-Vialetto-Van laere syndrome 247
HP:0010546HP:0010546Muscle fibrillation0SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 151
HP:0010546HP:0010546Muscle fibrillation0SMN1 CL E G H660611117OMIM:253300Spinal muscular atrophy, type I22
HP:0010546HP:0010546Muscle fibrillation0SMN1 CL E G H660611117OMIM:253550Spinal muscular atrophy, type II22
HP:0010546HP:0010546Muscle fibrillation0SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III22
HP:0010546HP:0010546Muscle fibrillation0SMN1 CL E G H660611117OMIM:271150Spinal muscular atrophy, type IV22
HP:0010546HP:0010546Muscle fibrillation0SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III1
HP:0010546HP:0010546Muscle fibrillation0SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA54
HP:0010546HP:0010546Muscle fibrillation0SYT2 CL E G H12783311510OMIM:619461MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B4
HP:0010546HP:0010546Muscle fibrillation0TBC1D24 CL E G H5746529203OMIM:605021Myoclonic epilepsy, familial infantile271
HP:0010546HP:0010546Muscle fibrillation0TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0010546HP:0010546Muscle fibrillation0TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa typeHP:0040282 - Frequent18
HP:0010546HP:0010546Muscle fibrillation0TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0010546HP:0010546Muscle fibrillation0TRAK1 CL E G H2290629947OMIM:618201Epileptic encephalopathy, early infantile, 68.
HP:0010546HP:0010546Muscle fibrillation0TSPYL1 CL E G H725912382OMIM:608800Sudden infant death with dysgenesis of the testes syndrome1
HP:0010546HP:0010546Muscle fibrillation0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0010546HP:0010546Muscle fibrillation0UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophy35
HP:0010546HP:0010546Muscle fibrillation0UBA1 CL E G H731712469OMIM:301830Spinal muscular atrophy, X-linked 235
HP:0010546HP:0010546Muscle fibrillation0VCP CL E G H741512666ORPHA:329475Spastic paraplegia-Paget disease of bone syndrome63
HP:0010546HP:0010546Muscle fibrillation0VRK1 CL E G H744312718ORPHA:2254Pontocerebellar hypoplasia type 132
HP:0010546HP:0010546Muscle fibrillation0VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A32
HP:0010546HP:0010546Muscle fibrillation0VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0010546HP:0001308Tongue fasciculations1ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures.
HP:0010546HP:0001308Tongue fasciculations1AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophyHP:0040284 - Very rare1
HP:0010546HP:0001308Tongue fasciculations1AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0010546HP:0001308Tongue fasciculations1AIFM1 CL E G H91318768OMIM:300816Combined oxidative phosphorylation deficiency 660
HP:0010546HP:0001308Tongue fasciculations1AIFM1 CL E G H91318768ORPHA:238329Severe X-linked mitochondrial encephalomyopathyHP:0040282 - Frequent60
HP:0010546HP:0001308Tongue fasciculations1ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy.78
HP:0010546HP:0001308Tongue fasciculations1ATP11A CL E G H2325013552OMIM:619851LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0010546HP:0001308Tongue fasciculations1ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent239
HP:0010546HP:0007289Limb fasciculations1ATXN10 CL E G H2581410549OMIM:603516Spinocerebellar ataxia 109
HP:0010546HP:0007089Facial-lingual fasciculations1ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease.14
HP:0010546HP:0007089Facial-lingual fasciculations1ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 1HP:0040282 - Frequent14
HP:0010546HP:0007089Facial-lingual fasciculations1ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 2HP:0040282 - Frequent14
HP:0010546HP:0007089Facial-lingual fasciculations1ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 3HP:0040282 - Frequent14
HP:0010546HP:0001308Tongue fasciculations1CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent449
HP:0010546HP:0001308Tongue fasciculations1CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onsetHP:0040283 - Occasional11
HP:0010546HP:0001308Tongue fasciculations1EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas58
HP:0010546HP:0001308Tongue fasciculations1EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0010546HP:0001308Tongue fasciculations1EXOSC3 CL E G H5101017944OMIM:614678Pontocerebellar hypoplasia, type 1B.38
HP:0010546HP:0001308Tongue fasciculations1EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0010546HP:0001308Tongue fasciculations1EXOSC8 CL E G H1134017035OMIM:616081Pontocerebellar hypoplasia, type 1C4
HP:0010546HP:0001308Tongue fasciculations1EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0010546HP:0001308Tongue fasciculations1EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D
HP:0010546HP:0001308Tongue fasciculations1FXR1 CL E G H80874023OMIM:618823MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0010546HP:0001308Tongue fasciculations1FXR1 CL E G H80874023OMIM:618822MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0010546HP:0007289Limb fasciculations1HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040282 - Frequent12
HP:0010546HP:0007289Limb fasciculations1HSPB1 CL E G H33155246ORPHA:99940Autosomal dominant Charcot-Marie-Tooth disease type 2FHP:0040281 - Very frequent47
HP:0010546HP:0001308Tongue fasciculations1KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel typeHP:0040283 - Occasional4
HP:0010546HP:0001308Tongue fasciculations1LGI3 CL E G H20319018711OMIM:620007
HP:0010546HP:0001308Tongue fasciculations1MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset158
HP:0010546HP:0001308Tongue fasciculations1MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas134
HP:0010546HP:0001308Tongue fasciculations1NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0010546HP:0001308Tongue fasciculations1NOP56 CL E G H1052815911OMIM:614153Spinocerebellar ataxia 369
HP:0010546HP:0001308Tongue fasciculations1NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 36HP:0040282 - Frequent9
HP:0010546HP:0001308Tongue fasciculations1OPTN CL E G H1013317142OMIM:613435Amyotrophic lateral sclerosis 12.62
HP:0010546HP:0001308Tongue fasciculations1PMP22 CL E G H53769118OMIM:145900Hypertrophic neuropathy of dejerine-sottas79
HP:0010546HP:0001308Tongue fasciculations1PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent94
HP:0010546HP:0001308Tongue fasciculations1PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0010546HP:0001308Tongue fasciculations1PRX CL E G H5771613797OMIM:145900Hypertrophic neuropathy of dejerine-sottas170
HP:0010546HP:0001308Tongue fasciculations1RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 11HP:0040283 - Occasional26
HP:0010546HP:0001308Tongue fasciculations1SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent1053
HP:0010546HP:0001308Tongue fasciculations1SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4CHP:0040283 - Occasional493
HP:0010546HP:0001308Tongue fasciculations1SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C.493
HP:0010546HP:0001308Tongue fasciculations1SLC25A21 CL E G H8987414411OMIM:618811MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0010546HP:0001308Tongue fasciculations1SLC25A46 CL E G H9113725198ORPHA:2254Pontocerebellar hypoplasia type 114
HP:0010546HP:0001308Tongue fasciculations1SLC52A2 CL E G H7958130224OMIM:614707Brown-Vialetto-Van laere syndrome 2.47
HP:0010546HP:0001308Tongue fasciculations1SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 1.51
HP:0010546HP:0001308Tongue fasciculations1SMN1 CL E G H660611117OMIM:253300Spinal muscular atrophy, type I.22
HP:0010546HP:0001308Tongue fasciculations1SMN1 CL E G H660611117OMIM:253550Spinal muscular atrophy, type II.22
HP:0010546HP:0001308Tongue fasciculations1SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III.22
HP:0010546HP:0007289Limb fasciculations1SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III.22
HP:0010546HP:0001308Tongue fasciculations1SMN1 CL E G H660611117OMIM:271150Spinal muscular atrophy, type IV.22
HP:0010546HP:0007289Limb fasciculations1SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III.1
HP:0010546HP:0001308Tongue fasciculations1SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III.1
HP:0010546HP:0001308Tongue fasciculations1SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA54
HP:0010546HP:0001308Tongue fasciculations1SYT2 CL E G H12783311510OMIM:619461MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B4
HP:0010546HP:0001308Tongue fasciculations1TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0010546HP:0007289Limb fasciculations1TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa typeHP:0040282 - Frequent18
HP:0010546HP:0001308Tongue fasciculations1TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0010546HP:0001308Tongue fasciculations1TSPYL1 CL E G H725912382OMIM:608800Sudden infant death with dysgenesis of the testes syndrome.1
HP:0010546HP:0001308Tongue fasciculations1UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophyHP:0040283 - Occasional35
HP:0010546HP:0001308Tongue fasciculations1UBA1 CL E G H731712469OMIM:301830Spinal muscular atrophy, X-linked 2.35
HP:0010546HP:0001308Tongue fasciculations1VCP CL E G H741512666ORPHA:329475Spastic paraplegia-Paget disease of bone syndromeHP:0040282 - Frequent63
HP:0010546HP:0007289Limb fasciculations1VCP CL E G H741512666ORPHA:329475Spastic paraplegia-Paget disease of bone syndromeHP:0040282 - Frequent63
HP:0010546HP:0001308Tongue fasciculations1VRK1 CL E G H744312718ORPHA:2254Pontocerebellar hypoplasia type 132
HP:0010546HP:0001308Tongue fasciculations1VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A32
HP:0010546HP:0001308Tongue fasciculations1VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0010546HP:0032507Labiomental fasciculations2 CL E G H


Genes (64) :ADPRS AGTPBP1 AIFM1 ASAH1 ATP11A ATP1A2 ATXN10 ATXN3 BIN1 CACNA1A CCNF CFL2 CHCHD10 DNM2 DYSF EGR2 EXOSC3 EXOSC8 EXOSC9 FXR1 GARS1 GYG1 HINT1 HSPB1 IFRD1 KCNK9 LGI3 MEGF10 MPZ MTMR14 MYF6 NDUFS4 NOP56 OPTN PMP22 POLG PRRT2 PRUNE1 PRX RMND1 RYR1 SBF1 SCN1A SETX SH3TC2 SLC25A21 SLC25A46 SLC52A2 SLC52A3 SMN1 SMN2 SPTLC1 SYT2 TBC1D24 TBCD TFG TOE1 TRAK1 TSPYL1 TWNK UBA1 VCP VRK1 VWA1

Diseases (64) :OMIM:618170 OMIM:618276 ORPHA:2254 OMIM:300816 ORPHA:238329 OMIM:159950 OMIM:619851 ORPHA:569 OMIM:603516 OMIM:109150 ORPHA:276238 ORPHA:276241 ORPHA:276244 ORPHA:169189 OMIM:619141 OMIM:610687 ORPHA:276435 OMIM:160150 OMIM:254130 OMIM:145900 OMIM:614678 OMIM:616081 OMIM:618065 OMIM:618823 OMIM:618822 OMIM:619042 OMIM:616199 ORPHA:324442 ORPHA:99940 ORPHA:98771 ORPHA:166108 OMIM:620007 OMIM:614399 OMIM:252010 OMIM:614153 ORPHA:276198 OMIM:613435 OMIM:607459 ORPHA:544469 OMIM:614922 OMIM:615284 OMIM:602433 ORPHA:99949 OMIM:601596 OMIM:618811 OMIM:614707 OMIM:211530 OMIM:253300 OMIM:253550 OMIM:253400 OMIM:271150 OMIM:162400 OMIM:619461 OMIM:605021 OMIM:617193 ORPHA:90117 OMIM:614969 OMIM:618201 OMIM:608800 ORPHA:1145 OMIM:301830 ORPHA:329475 OMIM:607596 OMIM:619216
 

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