Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of movement (HP:0100022)help
Parent Node:
expand
Involuntary movements (HP:0004305)help
..Starting node
..expand
Fasciculations (HP:0002380)help
Term ID: 2380
Name: Fasciculations
Synonym: Fasciculation; Muscle fasciculation; Muscle twitch
Definition: Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.
Comments:
Reference: HP:0002380
Genes and Diseases:
 
       Child Nodes:
........expandTongue fasciculations (HP:0001308) help
........expandFacial-lingual fasciculations (HP:0007089) help
........expandLimb fasciculations (HP:0007289) help

 Sister Nodes: 
..expandAthetosis (HP:0002305) help
..expandChorea (HP:0002072) help
..expandClonus (HP:0002169) help
..expandHemiballismus (HP:0100248) help
..expandIntermittent painful muscle spasms (HP:0011964) help
..expandMyoclonus (HP:0001336) help
..expandParoxysmal dyskinesia (HP:0007166) help
..expandSelf-mutilation of tongue and lips due to involuntary movements (HP:0008767) help
..expandStereotypy (HP:0000733) help
..expandTics (HP:0100033) help
..expandTremor (HP:0001337) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002380HP:0002380Fasciculations0AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM14508768300169
HP:0002380HP:0002380Fasciculations0AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM14138768300169
HP:0002380HP:0002380Fasciculations0ANO10 CL E G H55129284289ORPHA121425519613726
HP:0002380HP:0002380Fasciculations0ANO10 CL E G H55129284289ORPHA122225519613726
HP:0002380HP:0002380Fasciculations0ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM122225519613726
HP:0002380HP:0002380Fasciculations0ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM121425519613726
HP:0002380HP:0002380Fasciculations0AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1525644313700
HP:0002380HP:0002380Fasciculations0AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1479644313700
HP:0002380HP:0002380Fasciculations0ATAD1 CL E G H848963197Lateral body wall defectORPHA17625903614452
HP:0002380HP:0002380Fasciculations0ATAD1 CL E G H848963197Lateral body wall defectORPHA12725903614452
HP:0002380HP:0002380Fasciculations0ATXN2 CL E G H631198756ORPHA15210555601517
HP:0002380HP:0002380Fasciculations0ATXN2 CL E G H631198756ORPHA15010555601517
HP:0002380HP:0002380Fasciculations0ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15210555601517
HP:0002380HP:0002380Fasciculations0ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15010555601517
HP:0002380HP:0002380Fasciculations0CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM123015559615903
HP:0002380HP:0002380Fasciculations0CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM120515559615903
HP:0002380HP:0002380Fasciculations0CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM113024537609512
HP:0002380HP:0002380Fasciculations0CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM111024537609512
HP:0002380HP:0002380Fasciculations0EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM11089137606180
HP:0002380HP:0002380Fasciculations0EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM1489137606180
HP:0002380HP:0002380Fasciculations0FBXO38 CL E G H81545615575Distal hereditary motor neuronopathy 2D615575C3711384OMIM137228844608533
HP:0002380HP:0002380Fasciculations0FBXO38 CL E G H81545615575Distal hereditary motor neuronopathy 2D615575C3711384OMIM131928844608533
HP:0002380HP:0002380Fasciculations0FUS CL E G H2521608030Amyotrophic lateral sclerosis type 6608030C1842675OMIM13394010137070
HP:0002380HP:0002380Fasciculations0FUS CL E G H2521608030Amyotrophic lateral sclerosis type 6608030C1842675OMIM13234010137070
HP:0002380HP:0002380Fasciculations0GLA CL E G H2717301500Fabry disease301500C0002986OMIM19484296300644
HP:0002380HP:0002380Fasciculations0GLA CL E G H2717301500Fabry disease301500C0002986OMIM18994296300644
HP:0002380HP:0002380Fasciculations0GLRA1 CL E G H27413197Lateral body wall defectORPHA13424326138491
HP:0002380HP:0002380Fasciculations0GLRA1 CL E G H27413197Lateral body wall defectORPHA12994326138491
HP:0002380HP:0002380Fasciculations0GLRB CL E G H27433197Lateral body wall defectORPHA12394329138492
HP:0002380HP:0002380Fasciculations0GLRB CL E G H27433197Lateral body wall defectORPHA11574329138492
HP:0002380HP:0002380Fasciculations0GPHN CL E G H102433197Lateral body wall defectORPHA137415465603930
HP:0002380HP:0002380Fasciculations0GPHN CL E G H102433197Lateral body wall defectORPHA127615465603930
HP:0002380HP:0002380Fasciculations0HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM13974879606873
HP:0002380HP:0002380Fasciculations0HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM13614879606873
HP:0002380HP:0002380Fasciculations0HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11254912601314
HP:0002380HP:0002380Fasciculations0HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11144912601314
HP:0002380HP:0002380Fasciculations0HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM12995246602195
HP:0002380HP:0002380Fasciculations0HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM12725246602195
HP:0002380HP:0002380Fasciculations0KIF1C CL E G H10749397946ORPHA13356317603060
HP:0002380HP:0002380Fasciculations0KIF1C CL E G H10749397946ORPHA12866317603060
HP:0002380HP:0002380Fasciculations0KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM13356317603060
HP:0002380HP:0002380Fasciculations0KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM12866317603060
HP:0002380HP:0002380Fasciculations0LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM162725135610933
HP:0002380HP:0002380Fasciculations0LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM156325135610933
HP:0002380HP:0002380Fasciculations0MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM147923573616661
HP:0002380HP:0002380Fasciculations0MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM142523573616661
HP:0002380HP:0002380Fasciculations0PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM1768881176610
HP:0002380HP:0002380Fasciculations0PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM1708881176610
HP:0002380HP:0002380Fasciculations0PNPLA2 CL E G H5710498908ORPHA139130802609059
HP:0002380HP:0002380Fasciculations0PNPLA2 CL E G H5710498908ORPHA133430802609059
HP:0002380HP:0002380Fasciculations0PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM139130802609059
HP:0002380HP:0002380Fasciculations0PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM133430802609059
HP:0002380HP:0002380Fasciculations0PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM15029498176801
HP:0002380HP:0002380Fasciculations0PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM13909498176801
HP:0002380HP:0002380Fasciculations0SCN4A CL E G H6329682ORPHA1124110591603967
HP:0002380HP:0002380Fasciculations0SCN4A CL E G H6329682ORPHA1108110591603967
HP:0002380HP:0002380Fasciculations0SCO2 CL E G H9997521411ORPHA137010604604272
HP:0002380HP:0002380Fasciculations0SCO2 CL E G H9997521411ORPHA144510604604272
HP:0002380HP:0002380Fasciculations0SLC6A5 CL E G H91523197Lateral body wall defectORPHA140411051604159
HP:0002380HP:0002380Fasciculations0SLC6A5 CL E G H91523197Lateral body wall defectORPHA122311051604159
HP:0002380HP:0002380Fasciculations0SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM120811179147450
HP:0002380HP:0002380Fasciculations0SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM123211179147450
HP:0002380HP:0002380Fasciculations0SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1186611226610844
HP:0002380HP:0002380Fasciculations0SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1149411226610844
HP:0002380HP:0002380Fasciculations0SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM147311280601530
HP:0002380HP:0002380Fasciculations0SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM138311280601530
HP:0002380HP:0002380Fasciculations0TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM126911584604834
HP:0002380HP:0002380Fasciculations0TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM120611584604834
HP:0002380HP:0002380Fasciculations0TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM126311758602498
HP:0002380HP:0002380Fasciculations0TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM123711758602498
HP:0002380HP:0002380Fasciculations0UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM19712513191342
HP:0002380HP:0002380Fasciculations0UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM18312513191342
HP:0002380HP:0002380Fasciculations0VAPB CL E G H9217182980Adult proximal spinal muscular atrophy, autosomal dominant182980C1866777OMIM129012649605704
HP:0002380HP:0002380Fasciculations0VAPB CL E G H9217182980Adult proximal spinal muscular atrophy, autosomal dominant182980C1866777OMIM127512649605704
HP:0002380HP:0002380Fasciculations0VCP CL E G H7415329478ORPHA135612666601023
HP:0002380HP:0002380Fasciculations0VCP CL E G H7415329478ORPHA139512666601023
HP:0002380HP:0002380Fasciculations0VCP CL E G H7415613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia613954C3151403OMIM139512666601023
HP:0002380HP:0002380Fasciculations0VCP CL E G H7415613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia613954C3151403OMIM135612666601023
HP:0002380HP:0002380Fasciculations0VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM126623595608877
HP:0002380HP:0002380Fasciculations0VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM119123595608877
HP:0002380HP:0002380Fasciculations0VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM132112718602168
HP:0002380HP:0002380Fasciculations0VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM127812718602168
HP:0002380HP:0007289Limb fasciculations1AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM14508768300169
HP:0002380HP:0007289Limb fasciculations1AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM14138768300169
HP:0002380HP:0001308Tongue fasciculations1AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM14508768300169
HP:0002380HP:0007089Facial-lingual fasciculations1AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM14508768300169
HP:0002380HP:0007089Facial-lingual fasciculations1AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM14138768300169
HP:0002380HP:0001308Tongue fasciculations1AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM14138768300169
HP:0002380HP:0001308Tongue fasciculations1ANO10 CL E G H55129284289ORPHA121425519613726
HP:0002380HP:0007089Facial-lingual fasciculations1ANO10 CL E G H55129284289ORPHA121425519613726
HP:0002380HP:0007289Limb fasciculations1ANO10 CL E G H55129284289ORPHA122225519613726
HP:0002380HP:0007289Limb fasciculations1ANO10 CL E G H55129284289ORPHA121425519613726
HP:0002380HP:0001308Tongue fasciculations1ANO10 CL E G H55129284289ORPHA122225519613726
HP:0002380HP:0007089Facial-lingual fasciculations1ANO10 CL E G H55129284289ORPHA122225519613726
HP:0002380HP:0007089Facial-lingual fasciculations1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM122225519613726
HP:0002380HP:0001308Tongue fasciculations1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM122225519613726
HP:0002380HP:0007089Facial-lingual fasciculations1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM121425519613726
HP:0002380HP:0001308Tongue fasciculations1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM121425519613726
HP:0002380HP:0007289Limb fasciculations1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM122225519613726
HP:0002380HP:0007289Limb fasciculations1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM121425519613726
HP:0002380HP:0007289Limb fasciculations1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1525644313700
HP:0002380HP:0007289Limb fasciculations1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1479644313700
HP:0002380HP:0001308Tongue fasciculations1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1525644313700
HP:0002380HP:0007089Facial-lingual fasciculations1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1525644313700
HP:0002380HP:0001308Tongue fasciculations1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1479644313700
HP:0002380HP:0007089Facial-lingual fasciculations1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1479644313700
HP:0002380HP:0001308Tongue fasciculations1ATAD1 CL E G H848963197Lateral body wall defectORPHA17625903614452
HP:0002380HP:0007089Facial-lingual fasciculations1ATAD1 CL E G H848963197Lateral body wall defectORPHA17625903614452
HP:0002380HP:0001308Tongue fasciculations1ATAD1 CL E G H848963197Lateral body wall defectORPHA12725903614452
HP:0002380HP:0007089Facial-lingual fasciculations1ATAD1 CL E G H848963197Lateral body wall defectORPHA12725903614452
HP:0002380HP:0007289Limb fasciculations1ATAD1 CL E G H848963197Lateral body wall defectORPHA17625903614452
HP:0002380HP:0007289Limb fasciculations1ATAD1 CL E G H848963197Lateral body wall defectORPHA12725903614452
HP:0002380HP:0007289Limb fasciculations1ATXN2 CL E G H631198756ORPHA15210555601517
HP:0002380HP:0007289Limb fasciculations1ATXN2 CL E G H631198756ORPHA15010555601517
HP:0002380HP:0001308Tongue fasciculations1ATXN2 CL E G H631198756ORPHA15210555601517
HP:0002380HP:0007089Facial-lingual fasciculations1ATXN2 CL E G H631198756ORPHA15210555601517
HP:0002380HP:0001308Tongue fasciculations1ATXN2 CL E G H631198756ORPHA15010555601517
HP:0002380HP:0007089Facial-lingual fasciculations1ATXN2 CL E G H631198756ORPHA15010555601517
HP:0002380HP:0007289Limb fasciculations1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15210555601517
HP:0002380HP:0007289Limb fasciculations1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15010555601517
HP:0002380HP:0007089Facial-lingual fasciculations1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15210555601517
HP:0002380HP:0001308Tongue fasciculations1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15210555601517
HP:0002380HP:0007089Facial-lingual fasciculations1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15010555601517
HP:0002380HP:0001308Tongue fasciculations1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15010555601517
HP:0002380HP:0007289Limb fasciculations1CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM123015559615903
HP:0002380HP:0007289Limb fasciculations1CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM120515559615903
HP:0002380HP:0001308Tongue fasciculations1CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM123015559615903
HP:0002380HP:0007089Facial-lingual fasciculations1CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM123015559615903
HP:0002380HP:0001308Tongue fasciculations1CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM120515559615903
HP:0002380HP:0007089Facial-lingual fasciculations1CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM120515559615903
HP:0002380HP:0007289Limb fasciculations1CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM113024537609512
HP:0002380HP:0007289Limb fasciculations1CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM111024537609512
HP:0002380HP:0001308Tongue fasciculations1CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM113024537609512
HP:0002380HP:0007089Facial-lingual fasciculations1CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM113024537609512
HP:0002380HP:0001308Tongue fasciculations1CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM111024537609512
HP:0002380HP:0007089Facial-lingual fasciculations1CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM111024537609512
HP:0002380HP:0001308Tongue fasciculations1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM11089137606180
HP:0002380HP:0007089Facial-lingual fasciculations1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM11089137606180
HP:0002380HP:0001308Tongue fasciculations1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM1489137606180
HP:0002380HP:0007089Facial-lingual fasciculations1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM1489137606180
HP:0002380HP:0007289Limb fasciculations1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM11089137606180
HP:0002380HP:0007289Limb fasciculations1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM1489137606180
HP:0002380HP:0001308Tongue fasciculations1FBXO38 CL E G H81545615575Distal hereditary motor neuronopathy 2D615575C3711384OMIM137228844608533
HP:0002380HP:0007089Facial-lingual fasciculations1FBXO38 CL E G H81545615575Distal hereditary motor neuronopathy 2D615575C3711384OMIM137228844608533
HP:0002380HP:0001308Tongue fasciculations1FBXO38 CL E G H81545615575Distal hereditary motor neuronopathy 2D615575C3711384OMIM131928844608533
HP:0002380HP:0007089Facial-lingual fasciculations1FBXO38 CL E G H81545615575Distal hereditary motor neuronopathy 2D615575C3711384OMIM131928844608533
HP:0002380HP:0007289Limb fasciculations1FBXO38 CL E G H81545615575Distal hereditary motor neuronopathy 2D615575C3711384OMIM137228844608533
HP:0002380HP:0007289Limb fasciculations1FBXO38 CL E G H81545615575Distal hereditary motor neuronopathy 2D615575C3711384OMIM131928844608533
HP:0002380HP:0007289Limb fasciculations1FUS CL E G H2521608030Amyotrophic lateral sclerosis type 6608030C1842675OMIM13394010137070
HP:0002380HP:0007289Limb fasciculations1FUS CL E G H2521608030Amyotrophic lateral sclerosis type 6608030C1842675OMIM13234010137070
HP:0002380HP:0001308Tongue fasciculations1FUS CL E G H2521608030Amyotrophic lateral sclerosis type 6608030C1842675OMIM13394010137070
HP:0002380HP:0007089Facial-lingual fasciculations1FUS CL E G H2521608030Amyotrophic lateral sclerosis type 6608030C1842675OMIM13394010137070
HP:0002380HP:0001308Tongue fasciculations1FUS CL E G H2521608030Amyotrophic lateral sclerosis type 6608030C1842675OMIM13234010137070
HP:0002380HP:0007089Facial-lingual fasciculations1FUS CL E G H2521608030Amyotrophic lateral sclerosis type 6608030C1842675OMIM13234010137070
HP:0002380HP:0001308Tongue fasciculations1GLA CL E G H2717301500Fabry disease301500C0002986OMIM19484296300644
HP:0002380HP:0007089Facial-lingual fasciculations1GLA CL E G H2717301500Fabry disease301500C0002986OMIM19484296300644
HP:0002380HP:0001308Tongue fasciculations1GLA CL E G H2717301500Fabry disease301500C0002986OMIM18994296300644
HP:0002380HP:0007089Facial-lingual fasciculations1GLA CL E G H2717301500Fabry disease301500C0002986OMIM18994296300644
HP:0002380HP:0007289Limb fasciculations1GLA CL E G H2717301500Fabry disease301500C0002986OMIM19484296300644
HP:0002380HP:0007289Limb fasciculations1GLA CL E G H2717301500Fabry disease301500C0002986OMIM18994296300644
HP:0002380HP:0007289Limb fasciculations1GLRA1 CL E G H27413197Lateral body wall defectORPHA13424326138491
HP:0002380HP:0007289Limb fasciculations1GLRA1 CL E G H27413197Lateral body wall defectORPHA12994326138491
HP:0002380HP:0001308Tongue fasciculations1GLRA1 CL E G H27413197Lateral body wall defectORPHA13424326138491
HP:0002380HP:0007089Facial-lingual fasciculations1GLRA1 CL E G H27413197Lateral body wall defectORPHA13424326138491
HP:0002380HP:0007089Facial-lingual fasciculations1GLRA1 CL E G H27413197Lateral body wall defectORPHA12994326138491
HP:0002380HP:0001308Tongue fasciculations1GLRA1 CL E G H27413197Lateral body wall defectORPHA12994326138491
HP:0002380HP:0001308Tongue fasciculations1GLRB CL E G H27433197Lateral body wall defectORPHA12394329138492
HP:0002380HP:0007089Facial-lingual fasciculations1GLRB CL E G H27433197Lateral body wall defectORPHA12394329138492
HP:0002380HP:0001308Tongue fasciculations1GLRB CL E G H27433197Lateral body wall defectORPHA11574329138492
HP:0002380HP:0007089Facial-lingual fasciculations1GLRB CL E G H27433197Lateral body wall defectORPHA11574329138492
HP:0002380HP:0007289Limb fasciculations1GLRB CL E G H27433197Lateral body wall defectORPHA12394329138492
HP:0002380HP:0007289Limb fasciculations1GLRB CL E G H27433197Lateral body wall defectORPHA11574329138492
HP:0002380HP:0007289Limb fasciculations1GPHN CL E G H102433197Lateral body wall defectORPHA137415465603930
HP:0002380HP:0007289Limb fasciculations1GPHN CL E G H102433197Lateral body wall defectORPHA127615465603930
HP:0002380HP:0001308Tongue fasciculations1GPHN CL E G H102433197Lateral body wall defectORPHA137415465603930
HP:0002380HP:0007089Facial-lingual fasciculations1GPHN CL E G H102433197Lateral body wall defectORPHA137415465603930
HP:0002380HP:0001308Tongue fasciculations1GPHN CL E G H102433197Lateral body wall defectORPHA127615465603930
HP:0002380HP:0007089Facial-lingual fasciculations1GPHN CL E G H102433197Lateral body wall defectORPHA127615465603930
HP:0002380HP:0001308Tongue fasciculations1HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM13974879606873
HP:0002380HP:0007089Facial-lingual fasciculations1HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM13974879606873
HP:0002380HP:0001308Tongue fasciculations1HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM13614879606873
HP:0002380HP:0007089Facial-lingual fasciculations1HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM13614879606873
HP:0002380HP:0007289Limb fasciculations1HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM13974879606873
HP:0002380HP:0007289Limb fasciculations1HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM13614879606873
HP:0002380HP:0007289Limb fasciculations1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11254912601314
HP:0002380HP:0007289Limb fasciculations1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11144912601314
HP:0002380HP:0007089Facial-lingual fasciculations1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11254912601314
HP:0002380HP:0001308Tongue fasciculations1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11254912601314
HP:0002380HP:0007089Facial-lingual fasciculations1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11144912601314
HP:0002380HP:0001308Tongue fasciculations1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11144912601314
HP:0002380HP:0001308Tongue fasciculations1HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM12995246602195
HP:0002380HP:0007089Facial-lingual fasciculations1HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM12995246602195
HP:0002380HP:0001308Tongue fasciculations1HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM12725246602195
HP:0002380HP:0007089Facial-lingual fasciculations1HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM12725246602195
HP:0002380HP:0007289Limb fasciculations1HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM12995246602195
HP:0002380HP:0007289Limb fasciculations1HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM12725246602195
HP:0002380HP:0007289Limb fasciculations1KIF1C CL E G H10749397946ORPHA12866317603060
HP:0002380HP:0001308Tongue fasciculations1KIF1C CL E G H10749397946ORPHA13356317603060
HP:0002380HP:0007089Facial-lingual fasciculations1KIF1C CL E G H10749397946ORPHA13356317603060
HP:0002380HP:0001308Tongue fasciculations1KIF1C CL E G H10749397946ORPHA12866317603060
HP:0002380HP:0007089Facial-lingual fasciculations1KIF1C CL E G H10749397946ORPHA12866317603060
HP:0002380HP:0007289Limb fasciculations1KIF1C CL E G H10749397946ORPHA13356317603060
HP:0002380HP:0007089Facial-lingual fasciculations1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM13356317603060
HP:0002380HP:0001308Tongue fasciculations1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM13356317603060
HP:0002380HP:0007089Facial-lingual fasciculations1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM12866317603060
HP:0002380HP:0001308Tongue fasciculations1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM12866317603060
HP:0002380HP:0007289Limb fasciculations1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM13356317603060
HP:0002380HP:0007289Limb fasciculations1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM12866317603060
HP:0002380HP:0001308Tongue fasciculations1LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM162725135610933
HP:0002380HP:0007089Facial-lingual fasciculations1LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM162725135610933
HP:0002380HP:0001308Tongue fasciculations1LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM156325135610933
HP:0002380HP:0007089Facial-lingual fasciculations1LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM156325135610933
HP:0002380HP:0007289Limb fasciculations1LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM162725135610933
HP:0002380HP:0007289Limb fasciculations1LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM156325135610933
HP:0002380HP:0007289Limb fasciculations1MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM147923573616661
HP:0002380HP:0007289Limb fasciculations1MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM142523573616661
HP:0002380HP:0007089Facial-lingual fasciculations1MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM147923573616661
HP:0002380HP:0001308Tongue fasciculations1MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM147923573616661
HP:0002380HP:0007089Facial-lingual fasciculations1MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM142523573616661
HP:0002380HP:0001308Tongue fasciculations1MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM142523573616661
HP:0002380HP:0001308Tongue fasciculations1PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM1768881176610
HP:0002380HP:0007089Facial-lingual fasciculations1PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM1768881176610
HP:0002380HP:0001308Tongue fasciculations1PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM1708881176610
HP:0002380HP:0007089Facial-lingual fasciculations1PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM1708881176610
HP:0002380HP:0007289Limb fasciculations1PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM1768881176610
HP:0002380HP:0007289Limb fasciculations1PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM1708881176610
HP:0002380HP:0007089Facial-lingual fasciculations1PNPLA2 CL E G H5710498908ORPHA139130802609059
HP:0002380HP:0001308Tongue fasciculations1PNPLA2 CL E G H5710498908ORPHA139130802609059
HP:0002380HP:0007089Facial-lingual fasciculations1PNPLA2 CL E G H5710498908ORPHA133430802609059
HP:0002380HP:0001308Tongue fasciculations1PNPLA2 CL E G H5710498908ORPHA133430802609059
HP:0002380HP:0007289Limb fasciculations1PNPLA2 CL E G H5710498908ORPHA139130802609059
HP:0002380HP:0007289Limb fasciculations1PNPLA2 CL E G H5710498908ORPHA133430802609059
HP:0002380HP:0007289Limb fasciculations1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM139130802609059
HP:0002380HP:0007289Limb fasciculations1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM133430802609059
HP:0002380HP:0001308Tongue fasciculations1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM139130802609059
HP:0002380HP:0007089Facial-lingual fasciculations1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM139130802609059
HP:0002380HP:0001308Tongue fasciculations1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM133430802609059
HP:0002380HP:0007089Facial-lingual fasciculations1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM133430802609059
HP:0002380HP:0007289Limb fasciculations1PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM15029498176801
HP:0002380HP:0007289Limb fasciculations1PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM13909498176801
HP:0002380HP:0001308Tongue fasciculations1PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM15029498176801
HP:0002380HP:0007089Facial-lingual fasciculations1PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM15029498176801
HP:0002380HP:0001308Tongue fasciculations1PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM13909498176801
HP:0002380HP:0007089Facial-lingual fasciculations1PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM13909498176801
HP:0002380HP:0007289Limb fasciculations1SCN4A CL E G H6329682ORPHA1124110591603967
HP:0002380HP:0007289Limb fasciculations1SCN4A CL E G H6329682ORPHA1108110591603967
HP:0002380HP:0007089Facial-lingual fasciculations1SCN4A CL E G H6329682ORPHA1124110591603967
HP:0002380HP:0001308Tongue fasciculations1SCN4A CL E G H6329682ORPHA1124110591603967
HP:0002380HP:0007089Facial-lingual fasciculations1SCN4A CL E G H6329682ORPHA1108110591603967
HP:0002380HP:0001308Tongue fasciculations1SCN4A CL E G H6329682ORPHA1108110591603967
HP:0002380HP:0001308Tongue fasciculations1SCO2 CL E G H9997521411ORPHA137010604604272
HP:0002380HP:0007089Facial-lingual fasciculations1SCO2 CL E G H9997521411ORPHA137010604604272
HP:0002380HP:0007289Limb fasciculations1SCO2 CL E G H9997521411ORPHA144510604604272
HP:0002380HP:0007289Limb fasciculations1SCO2 CL E G H9997521411ORPHA137010604604272
HP:0002380HP:0001308Tongue fasciculations1SCO2 CL E G H9997521411ORPHA144510604604272
HP:0002380HP:0007089Facial-lingual fasciculations1SCO2 CL E G H9997521411ORPHA144510604604272
HP:0002380HP:0001308Tongue fasciculations1SLC6A5 CL E G H91523197Lateral body wall defectORPHA140411051604159
HP:0002380HP:0007089Facial-lingual fasciculations1SLC6A5 CL E G H91523197Lateral body wall defectORPHA140411051604159
HP:0002380HP:0001308Tongue fasciculations1SLC6A5 CL E G H91523197Lateral body wall defectORPHA122311051604159
HP:0002380HP:0007089Facial-lingual fasciculations1SLC6A5 CL E G H91523197Lateral body wall defectORPHA122311051604159
HP:0002380HP:0007289Limb fasciculations1SLC6A5 CL E G H91523197Lateral body wall defectORPHA140411051604159
HP:0002380HP:0007289Limb fasciculations1SLC6A5 CL E G H91523197Lateral body wall defectORPHA122311051604159
HP:0002380HP:0001308Tongue fasciculations1SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM120811179147450
HP:0002380HP:0007089Facial-lingual fasciculations1SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM120811179147450
HP:0002380HP:0007289Limb fasciculations1SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM123211179147450
HP:0002380HP:0007289Limb fasciculations1SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM120811179147450
HP:0002380HP:0001308Tongue fasciculations1SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM123211179147450
HP:0002380HP:0007089Facial-lingual fasciculations1SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM123211179147450
HP:0002380HP:0001308Tongue fasciculations1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1186611226610844
HP:0002380HP:0007089Facial-lingual fasciculations1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1186611226610844
HP:0002380HP:0001308Tongue fasciculations1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1149411226610844
HP:0002380HP:0007089Facial-lingual fasciculations1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1149411226610844
HP:0002380HP:0007289Limb fasciculations1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1186611226610844
HP:0002380HP:0007289Limb fasciculations1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1149411226610844
HP:0002380HP:0007289Limb fasciculations1SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM147311280601530
HP:0002380HP:0007289Limb fasciculations1SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM138311280601530
HP:0002380HP:0007089Facial-lingual fasciculations1SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM147311280601530
HP:0002380HP:0001308Tongue fasciculations1SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM147311280601530
HP:0002380HP:0001308Tongue fasciculations1SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM138311280601530
HP:0002380HP:0007089Facial-lingual fasciculations1SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM138311280601530
HP:0002380HP:0001308Tongue fasciculations1TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM126911584604834
HP:0002380HP:0007089Facial-lingual fasciculations1TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM126911584604834
HP:0002380HP:0001308Tongue fasciculations1TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM120611584604834
HP:0002380HP:0007089Facial-lingual fasciculations1TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM120611584604834
HP:0002380HP:0007289Limb fasciculations1TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM126911584604834
HP:0002380HP:0007289Limb fasciculations1TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM120611584604834
HP:0002380HP:0007289Limb fasciculations1TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM126311758602498
HP:0002380HP:0007289Limb fasciculations1TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM123711758602498
HP:0002380HP:0001308Tongue fasciculations1TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM126311758602498
HP:0002380HP:0007089Facial-lingual fasciculations1TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM126311758602498
HP:0002380HP:0001308Tongue fasciculations1TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM123711758602498
HP:0002380HP:0007089Facial-lingual fasciculations1TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM123711758602498
HP:0002380HP:0007289Limb fasciculations1UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM19712513191342
HP:0002380HP:0007289Limb fasciculations1UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM18312513191342
HP:0002380HP:0001308Tongue fasciculations1UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM19712513191342
HP:0002380HP:0007089Facial-lingual fasciculations1UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM19712513191342
HP:0002380HP:0001308Tongue fasciculations1UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM18312513191342
HP:0002380HP:0007089Facial-lingual fasciculations1UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM18312513191342
HP:0002380HP:0001308Tongue fasciculations1VAPB CL E G H9217182980Adult proximal spinal muscular atrophy, autosomal dominant182980C1866777OMIM129012649605704
HP:0002380HP:0007089Facial-lingual fasciculations1VAPB CL E G H9217182980Adult proximal spinal muscular atrophy, autosomal dominant182980C1866777OMIM129012649605704
HP:0002380HP:0001308Tongue fasciculations1VAPB CL E G H9217182980Adult proximal spinal muscular atrophy, autosomal dominant182980C1866777OMIM127512649605704
HP:0002380HP:0007089Facial-lingual fasciculations1VAPB CL E G H9217182980Adult proximal spinal muscular atrophy, autosomal dominant182980C1866777OMIM127512649605704
HP:0002380HP:0007289Limb fasciculations1VAPB CL E G H9217182980Adult proximal spinal muscular atrophy, autosomal dominant182980C1866777OMIM129012649605704
HP:0002380HP:0007289Limb fasciculations1VAPB CL E G H9217182980Adult proximal spinal muscular atrophy, autosomal dominant182980C1866777OMIM127512649605704
HP:0002380HP:0001308Tongue fasciculations1VCP CL E G H7415329478ORPHA135612666601023
HP:0002380HP:0007089Facial-lingual fasciculations1VCP CL E G H7415329478ORPHA135612666601023
HP:0002380HP:0007289Limb fasciculations1VCP CL E G H7415329478ORPHA139512666601023
HP:0002380HP:0007289Limb fasciculations1VCP CL E G H7415329478ORPHA135612666601023
HP:0002380HP:0001308Tongue fasciculations1VCP CL E G H7415329478ORPHA139512666601023
HP:0002380HP:0007089Facial-lingual fasciculations1VCP CL E G H7415329478ORPHA139512666601023
HP:0002380HP:0007289Limb fasciculations1VCP CL E G H7415613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia613954C3151403OMIM139512666601023
HP:0002380HP:0007289Limb fasciculations1VCP CL E G H7415613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia613954C3151403OMIM135612666601023
HP:0002380HP:0001308Tongue fasciculations1VCP CL E G H7415613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia613954C3151403OMIM139512666601023
HP:0002380HP:0007089Facial-lingual fasciculations1VCP CL E G H7415613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia613954C3151403OMIM139512666601023
HP:0002380HP:0001308Tongue fasciculations1VCP CL E G H7415613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia613954C3151403OMIM135612666601023
HP:0002380HP:0007089Facial-lingual fasciculations1VCP CL E G H7415613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia613954C3151403OMIM135612666601023
HP:0002380HP:0007289Limb fasciculations1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM126623595608877
HP:0002380HP:0007289Limb fasciculations1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM119123595608877
HP:0002380HP:0001308Tongue fasciculations1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM126623595608877
HP:0002380HP:0007089Facial-lingual fasciculations1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM126623595608877
HP:0002380HP:0001308Tongue fasciculations1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM119123595608877
HP:0002380HP:0007089Facial-lingual fasciculations1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM119123595608877
HP:0002380HP:0001308Tongue fasciculations1VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM132112718602168
HP:0002380HP:0007089Facial-lingual fasciculations1VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM132112718602168
HP:0002380HP:0001308Tongue fasciculations1VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM127812718602168
HP:0002380HP:0007089Facial-lingual fasciculations1VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM127812718602168
HP:0002380HP:0007289Limb fasciculations1VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM132112718602168
HP:0002380HP:0007289Limb fasciculations1VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM127812718602168
HP:0002380HP:0032507Labiomental fasciculations2AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM14508768300169
HP:0002380HP:0032507Labiomental fasciculations2AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM14138768300169
HP:0002380HP:0032507Labiomental fasciculations2ANO10 CL E G H55129284289ORPHA122225519613726
HP:0002380HP:0032507Labiomental fasciculations2ANO10 CL E G H55129284289ORPHA121425519613726
HP:0002380HP:0032507Labiomental fasciculations2ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM122225519613726
HP:0002380HP:0032507Labiomental fasciculations2ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM121425519613726
HP:0002380HP:0032507Labiomental fasciculations2AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1525644313700
HP:0002380HP:0032507Labiomental fasciculations2AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1479644313700
HP:0002380HP:0032507Labiomental fasciculations2ATAD1 CL E G H848963197Lateral body wall defectORPHA17625903614452
HP:0002380HP:0032507Labiomental fasciculations2ATAD1 CL E G H848963197Lateral body wall defectORPHA12725903614452
HP:0002380HP:0032507Labiomental fasciculations2ATXN2 CL E G H631198756ORPHA15210555601517
HP:0002380HP:0032507Labiomental fasciculations2ATXN2 CL E G H631198756ORPHA15010555601517
HP:0002380HP:0032507Labiomental fasciculations2ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15210555601517
HP:0002380HP:0032507Labiomental fasciculations2ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15010555601517
HP:0002380HP:0032507Labiomental fasciculations2CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM123015559615903
HP:0002380HP:0032507Labiomental fasciculations2CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM120515559615903
HP:0002380HP:0032507Labiomental fasciculations2CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM113024537609512
HP:0002380HP:0032507Labiomental fasciculations2CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM111024537609512
HP:0002380HP:0032507Labiomental fasciculations2EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM11089137606180
HP:0002380HP:0032507Labiomental fasciculations2EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM1489137606180
HP:0002380HP:0032507Labiomental fasciculations2FBXO38 CL E G H81545615575Distal hereditary motor neuronopathy 2D615575C3711384OMIM137228844608533
HP:0002380HP:0032507Labiomental fasciculations2FBXO38 CL E G H81545615575Distal hereditary motor neuronopathy 2D615575C3711384OMIM131928844608533
HP:0002380HP:0032507Labiomental fasciculations2FUS CL E G H2521608030Amyotrophic lateral sclerosis type 6608030C1842675OMIM13394010137070
HP:0002380HP:0032507Labiomental fasciculations2FUS CL E G H2521608030Amyotrophic lateral sclerosis type 6608030C1842675OMIM13234010137070
HP:0002380HP:0032507Labiomental fasciculations2GLA CL E G H2717301500Fabry disease301500C0002986OMIM19484296300644
HP:0002380HP:0032507Labiomental fasciculations2GLA CL E G H2717301500Fabry disease301500C0002986OMIM18994296300644
HP:0002380HP:0032507Labiomental fasciculations2GLRA1 CL E G H27413197Lateral body wall defectORPHA13424326138491
HP:0002380HP:0032507Labiomental fasciculations2GLRA1 CL E G H27413197Lateral body wall defectORPHA12994326138491
HP:0002380HP:0032507Labiomental fasciculations2GLRB CL E G H27433197Lateral body wall defectORPHA12394329138492
HP:0002380HP:0032507Labiomental fasciculations2GLRB CL E G H27433197Lateral body wall defectORPHA11574329138492
HP:0002380HP:0032507Labiomental fasciculations2GPHN CL E G H102433197Lateral body wall defectORPHA137415465603930
HP:0002380HP:0032507Labiomental fasciculations2GPHN CL E G H102433197Lateral body wall defectORPHA127615465603930
HP:0002380HP:0032507Labiomental fasciculations2HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM13974879606873
HP:0002380HP:0032507Labiomental fasciculations2HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM13614879606873
HP:0002380HP:0032507Labiomental fasciculations2HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11254912601314
HP:0002380HP:0032507Labiomental fasciculations2HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11144912601314
HP:0002380HP:0032507Labiomental fasciculations2HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM12995246602195
HP:0002380HP:0032507Labiomental fasciculations2HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM12725246602195
HP:0002380HP:0032507Labiomental fasciculations2KIF1C CL E G H10749397946ORPHA12866317603060
HP:0002380HP:0032507Labiomental fasciculations2KIF1C CL E G H10749397946ORPHA13356317603060
HP:0002380HP:0032507Labiomental fasciculations2KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM13356317603060
HP:0002380HP:0032507Labiomental fasciculations2KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM12866317603060
HP:0002380HP:0032507Labiomental fasciculations2LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM162725135610933
HP:0002380HP:0032507Labiomental fasciculations2LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM156325135610933
HP:0002380HP:0032507Labiomental fasciculations2MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM147923573616661
HP:0002380HP:0032507Labiomental fasciculations2MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM142523573616661
HP:0002380HP:0032507Labiomental fasciculations2PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM1768881176610
HP:0002380HP:0032507Labiomental fasciculations2PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM1708881176610
HP:0002380HP:0032507Labiomental fasciculations2PNPLA2 CL E G H5710498908ORPHA139130802609059
HP:0002380HP:0032507Labiomental fasciculations2PNPLA2 CL E G H5710498908ORPHA133430802609059
HP:0002380HP:0032507Labiomental fasciculations2PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM139130802609059
HP:0002380HP:0032507Labiomental fasciculations2PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM133430802609059
HP:0002380HP:0032507Labiomental fasciculations2PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM15029498176801
HP:0002380HP:0032507Labiomental fasciculations2PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM13909498176801
HP:0002380HP:0032507Labiomental fasciculations2SCN4A CL E G H6329682ORPHA1124110591603967
HP:0002380HP:0032507Labiomental fasciculations2SCN4A CL E G H6329682ORPHA1108110591603967
HP:0002380HP:0032507Labiomental fasciculations2SCO2 CL E G H9997521411ORPHA144510604604272
HP:0002380HP:0032507Labiomental fasciculations2SCO2 CL E G H9997521411ORPHA137010604604272
HP:0002380HP:0032507Labiomental fasciculations2SLC6A5 CL E G H91523197Lateral body wall defectORPHA140411051604159
HP:0002380HP:0032507Labiomental fasciculations2SLC6A5 CL E G H91523197Lateral body wall defectORPHA122311051604159
HP:0002380HP:0032507Labiomental fasciculations2SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM123211179147450
HP:0002380HP:0032507Labiomental fasciculations2SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM120811179147450
HP:0002380HP:0032507Labiomental fasciculations2SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1186611226610844
HP:0002380HP:0032507Labiomental fasciculations2SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1149411226610844
HP:0002380HP:0032507Labiomental fasciculations2SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM147311280601530
HP:0002380HP:0032507Labiomental fasciculations2SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM138311280601530
HP:0002380HP:0032507Labiomental fasciculations2TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM126911584604834
HP:0002380HP:0032507Labiomental fasciculations2TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM120611584604834
HP:0002380HP:0032507Labiomental fasciculations2TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM126311758602498
HP:0002380HP:0032507Labiomental fasciculations2TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM123711758602498
HP:0002380HP:0032507Labiomental fasciculations2UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM19712513191342
HP:0002380HP:0032507Labiomental fasciculations2UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM18312513191342
HP:0002380HP:0032507Labiomental fasciculations2VAPB CL E G H9217182980Adult proximal spinal muscular atrophy, autosomal dominant182980C1866777OMIM129012649605704
HP:0002380HP:0032507Labiomental fasciculations2VAPB CL E G H9217182980Adult proximal spinal muscular atrophy, autosomal dominant182980C1866777OMIM127512649605704
HP:0002380HP:0032507Labiomental fasciculations2VCP CL E G H7415329478ORPHA139512666601023
HP:0002380HP:0032507Labiomental fasciculations2VCP CL E G H7415329478ORPHA135612666601023
HP:0002380HP:0032507Labiomental fasciculations2VCP CL E G H7415613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia613954C3151403OMIM139512666601023
HP:0002380HP:0032507Labiomental fasciculations2VCP CL E G H7415613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia613954C3151403OMIM135612666601023
HP:0002380HP:0032507Labiomental fasciculations2VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM126623595608877
HP:0002380HP:0032507Labiomental fasciculations2VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM119123595608877
HP:0002380HP:0032507Labiomental fasciculations2VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM132112718602168
HP:0002380HP:0032507Labiomental fasciculations2VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM127812718602168
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002380HP:0002380Fasciculations0ATXN1 CL E G H631098755ORPHA07810548601556
HP:0002380HP:0002380Fasciculations0ATXN1 CL E G H631098755ORPHA07610548601556
HP:0002380HP:0002380Fasciculations0ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0447106607047
HP:0002380HP:0002380Fasciculations0BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM050617208609797
HP:0002380HP:0002380Fasciculations0BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM044517208609797
HP:0002380HP:0002380Fasciculations0C9orf72 CL E G H203228275864ORPHA016128337614260
HP:0002380HP:0002380Fasciculations0C9orf72 CL E G H203228275872ORPHA016528337614260
HP:0002380HP:0002380Fasciculations0C9orf72 CL E G H203228275872ORPHA016128337614260
HP:0002380HP:0002380Fasciculations0C9orf72 CL E G H203228275864ORPHA016528337614260
HP:0002380HP:0002380Fasciculations0CEP126 CL E G H5756265684ORPHA03029264614634
HP:0002380HP:0002380Fasciculations0CEP126 CL E G H5756265684ORPHA02829264614634
HP:0002380HP:0002380Fasciculations0CHCHD10 CL E G H400916275872ORPHA020515559615903
HP:0002380HP:0002380Fasciculations0CHCHD10 CL E G H400916275872ORPHA023015559615903
HP:0002380HP:0002380Fasciculations0CHMP2B CL E G H25978275864ORPHA013024537609512
HP:0002380HP:0002380Fasciculations0CHMP2B CL E G H25978275864ORPHA011024537609512
HP:0002380HP:0002380Fasciculations0CPLANE1 CL E G H6525065684ORPHA0123925801614571
HP:0002380HP:0002380Fasciculations0CPLANE1 CL E G H6525065684ORPHA082425801614571
HP:0002380HP:0002380Fasciculations0ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM021314415605512
HP:0002380HP:0002380Fasciculations0ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM017814415605512
HP:0002380HP:0002380Fasciculations0FUS CL E G H2521275872ORPHA03394010137070
HP:0002380HP:0002380Fasciculations0FUS CL E G H2521275872ORPHA03234010137070
HP:0002380HP:0002380Fasciculations0GRN CL E G H2896275864ORPHA03024601138945
HP:0002380HP:0002380Fasciculations0GRN CL E G H2896275864ORPHA03584601138945
HP:0002380HP:0002380Fasciculations0HNRNPA1 CL E G H317852430ORPHA0605031164017
HP:0002380HP:0002380Fasciculations0HNRNPA1 CL E G H317852430ORPHA0595031164017
HP:0002380HP:0002380Fasciculations0HNRNPA2B1 CL E G H318152430ORPHA01555033600124
HP:0002380HP:0002380Fasciculations0HNRNPA2B1 CL E G H318152430ORPHA01265033600124
HP:0002380HP:0002380Fasciculations0MAPT CL E G H4137275864ORPHA04886893157140
HP:0002380HP:0002380Fasciculations0MAPT CL E G H4137275864ORPHA04656893157140
HP:0002380HP:0002380Fasciculations0PSEN1 CL E G H5663275864ORPHA04089508104311
HP:0002380HP:0002380Fasciculations0PSEN1 CL E G H5663275864ORPHA04319508104311
HP:0002380HP:0002380Fasciculations0RYR1 CL E G H6261324581ORPHA0460410483180901
HP:0002380HP:0002380Fasciculations0RYR1 CL E G H6261324581ORPHA0410110483180901
HP:0002380HP:0002380Fasciculations0SQSTM1 CL E G H8878275872ORPHA038311280601530
HP:0002380HP:0002380Fasciculations0SQSTM1 CL E G H8878275864ORPHA047311280601530
HP:0002380HP:0002380Fasciculations0SQSTM1 CL E G H8878275864ORPHA038311280601530
HP:0002380HP:0002380Fasciculations0SQSTM1 CL E G H8878275872ORPHA047311280601530
HP:0002380HP:0002380Fasciculations0TARDBP CL E G H23435275872ORPHA022511571605078
HP:0002380HP:0002380Fasciculations0TARDBP CL E G H23435275872ORPHA021411571605078
HP:0002380HP:0002380Fasciculations0TBK1 CL E G H29110275872ORPHA020611584604834
HP:0002380HP:0002380Fasciculations0TBK1 CL E G H29110275872ORPHA026911584604834
HP:0002380HP:0002380Fasciculations0TMEM106B CL E G H54664275864ORPHA06222407613413
HP:0002380HP:0002380Fasciculations0TMEM106B CL E G H54664275864ORPHA07422407613413
HP:0002380HP:0002380Fasciculations0TREM2 CL E G H54209275864ORPHA09417761605086
HP:0002380HP:0002380Fasciculations0TREM2 CL E G H54209275864ORPHA06417761605086
HP:0002380HP:0002380Fasciculations0VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM029012649605704
HP:0002380HP:0002380Fasciculations0VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM027512649605704
HP:0002380HP:0002380Fasciculations0VCP CL E G H7415275864ORPHA035612666601023
HP:0002380HP:0002380Fasciculations0VCP CL E G H7415275872ORPHA039512666601023
HP:0002380HP:0002380Fasciculations0VCP CL E G H7415275872ORPHA035612666601023
HP:0002380HP:0002380Fasciculations0VCP CL E G H741552430ORPHA039512666601023
HP:0002380HP:0002380Fasciculations0VCP CL E G H7415275864ORPHA039512666601023
HP:0002380HP:0002380Fasciculations0VCP CL E G H741552430ORPHA035612666601023
HP:0002380HP:0007089Facial-lingual fasciculations1ATXN1 CL E G H631098755ORPHA07810548601556
HP:0002380HP:0001308Tongue fasciculations1ATXN1 CL E G H631098755ORPHA07810548601556
HP:0002380HP:0007089Facial-lingual fasciculations1ATXN1 CL E G H631098755ORPHA07610548601556
HP:0002380HP:0001308Tongue fasciculations1ATXN1 CL E G H631098755ORPHA07610548601556
HP:0002380HP:0007289Limb fasciculations1ATXN1 CL E G H631098755ORPHA07810548601556
HP:0002380HP:0007289Limb fasciculations1ATXN1 CL E G H631098755ORPHA07610548601556
HP:0002380HP:0007089Facial-lingual fasciculations1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0447106607047
HP:0002380HP:0007289Limb fasciculations1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0447106607047
HP:0002380HP:0001308Tongue fasciculations1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0447106607047
HP:0002380HP:0001308Tongue fasciculations1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM050617208609797
HP:0002380HP:0007089Facial-lingual fasciculations1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM050617208609797
HP:0002380HP:0001308Tongue fasciculations1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM044517208609797
HP:0002380HP:0007089Facial-lingual fasciculations1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM044517208609797
HP:0002380HP:0007289Limb fasciculations1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM050617208609797
HP:0002380HP:0007289Limb fasciculations1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM044517208609797
HP:0002380HP:0007289Limb fasciculations1C9orf72 CL E G H203228275872ORPHA016128337614260
HP:0002380HP:0007289Limb fasciculations1C9orf72 CL E G H203228275864ORPHA016528337614260
HP:0002380HP:0001308Tongue fasciculations1C9orf72 CL E G H203228275872ORPHA016528337614260
HP:0002380HP:0007089Facial-lingual fasciculations1C9orf72 CL E G H203228275872ORPHA016528337614260
HP:0002380HP:0007289Limb fasciculations1C9orf72 CL E G H203228275864ORPHA016128337614260
HP:0002380HP:0001308Tongue fasciculations1C9orf72 CL E G H203228275872ORPHA016128337614260
HP:0002380HP:0007089Facial-lingual fasciculations1C9orf72 CL E G H203228275872ORPHA016128337614260
HP:0002380HP:0001308Tongue fasciculations1C9orf72 CL E G H203228275864ORPHA016528337614260
HP:0002380HP:0007089Facial-lingual fasciculations1C9orf72 CL E G H203228275864ORPHA016528337614260
HP:0002380HP:0007289Limb fasciculations1C9orf72 CL E G H203228275872ORPHA016528337614260
HP:0002380HP:0001308Tongue fasciculations1C9orf72 CL E G H203228275864ORPHA016128337614260
HP:0002380HP:0007089Facial-lingual fasciculations1C9orf72 CL E G H203228275864ORPHA016128337614260
HP:0002380HP:0007089Facial-lingual fasciculations1CEP126 CL E G H5756265684ORPHA03029264614634
HP:0002380HP:0001308Tongue fasciculations1CEP126 CL E G H5756265684ORPHA03029264614634
HP:0002380HP:0001308Tongue fasciculations1CEP126 CL E G H5756265684ORPHA02829264614634
HP:0002380HP:0007089Facial-lingual fasciculations1CEP126 CL E G H5756265684ORPHA02829264614634
HP:0002380HP:0007289Limb fasciculations1CEP126 CL E G H5756265684ORPHA03029264614634
HP:0002380HP:0007289Limb fasciculations1CEP126 CL E G H5756265684ORPHA02829264614634
HP:0002380HP:0007089Facial-lingual fasciculations1CHCHD10 CL E G H400916275872ORPHA020515559615903
HP:0002380HP:0001308Tongue fasciculations1CHCHD10 CL E G H400916275872ORPHA020515559615903
HP:0002380HP:0007289Limb fasciculations1CHCHD10 CL E G H400916275872ORPHA023015559615903
HP:0002380HP:0007289Limb fasciculations1CHCHD10 CL E G H400916275872ORPHA020515559615903
HP:0002380HP:0007089Facial-lingual fasciculations1CHCHD10 CL E G H400916275872ORPHA023015559615903
HP:0002380HP:0001308Tongue fasciculations1CHCHD10 CL E G H400916275872ORPHA023015559615903
HP:0002380HP:0007289Limb fasciculations1CHMP2B CL E G H25978275864ORPHA011024537609512
HP:0002380HP:0001308Tongue fasciculations1CHMP2B CL E G H25978275864ORPHA013024537609512
HP:0002380HP:0007089Facial-lingual fasciculations1CHMP2B CL E G H25978275864ORPHA013024537609512
HP:0002380HP:0007089Facial-lingual fasciculations1CHMP2B CL E G H25978275864ORPHA011024537609512
HP:0002380HP:0001308Tongue fasciculations1CHMP2B CL E G H25978275864ORPHA011024537609512
HP:0002380HP:0007289Limb fasciculations1CHMP2B CL E G H25978275864ORPHA013024537609512
HP:0002380HP:0007289Limb fasciculations1CPLANE1 CL E G H6525065684ORPHA0123925801614571
HP:0002380HP:0007289Limb fasciculations1CPLANE1 CL E G H6525065684ORPHA082425801614571
HP:0002380HP:0001308Tongue fasciculations1CPLANE1 CL E G H6525065684ORPHA0123925801614571
HP:0002380HP:0007089Facial-lingual fasciculations1CPLANE1 CL E G H6525065684ORPHA0123925801614571
HP:0002380HP:0001308Tongue fasciculations1CPLANE1 CL E G H6525065684ORPHA082425801614571
HP:0002380HP:0007089Facial-lingual fasciculations1CPLANE1 CL E G H6525065684ORPHA082425801614571
HP:0002380HP:0001308Tongue fasciculations1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM021314415605512
HP:0002380HP:0007089Facial-lingual fasciculations1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM021314415605512
HP:0002380HP:0001308Tongue fasciculations1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM017814415605512
HP:0002380HP:0007089Facial-lingual fasciculations1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM017814415605512
HP:0002380HP:0007289Limb fasciculations1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM021314415605512
HP:0002380HP:0007289Limb fasciculations1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM017814415605512
HP:0002380HP:0007289Limb fasciculations1FUS CL E G H2521275872ORPHA03234010137070
HP:0002380HP:0001308Tongue fasciculations1FUS CL E G H2521275872ORPHA03394010137070
HP:0002380HP:0007089Facial-lingual fasciculations1FUS CL E G H2521275872ORPHA03394010137070
HP:0002380HP:0001308Tongue fasciculations1FUS CL E G H2521275872ORPHA03234010137070
HP:0002380HP:0007089Facial-lingual fasciculations1FUS CL E G H2521275872ORPHA03234010137070
HP:0002380HP:0007289Limb fasciculations1FUS CL E G H2521275872ORPHA03394010137070
HP:0002380HP:0001308Tongue fasciculations1GRN CL E G H2896275864ORPHA03024601138945
HP:0002380HP:0007089Facial-lingual fasciculations1GRN CL E G H2896275864ORPHA03024601138945
HP:0002380HP:0007289Limb fasciculations1GRN CL E G H2896275864ORPHA03584601138945
HP:0002380HP:0007289Limb fasciculations1GRN CL E G H2896275864ORPHA03024601138945
HP:0002380HP:0001308Tongue fasciculations1GRN CL E G H2896275864ORPHA03584601138945
HP:0002380HP:0007089Facial-lingual fasciculations1GRN CL E G H2896275864ORPHA03584601138945
HP:0002380HP:0007289Limb fasciculations1HNRNPA1 CL E G H317852430ORPHA0605031164017
HP:0002380HP:0007289Limb fasciculations1HNRNPA1 CL E G H317852430ORPHA0595031164017
HP:0002380HP:0001308Tongue fasciculations1HNRNPA1 CL E G H317852430ORPHA0605031164017
HP:0002380HP:0007089Facial-lingual fasciculations1HNRNPA1 CL E G H317852430ORPHA0605031164017
HP:0002380HP:0001308Tongue fasciculations1HNRNPA1 CL E G H317852430ORPHA0595031164017
HP:0002380HP:0007089Facial-lingual fasciculations1HNRNPA1 CL E G H317852430ORPHA0595031164017
HP:0002380HP:0001308Tongue fasciculations1HNRNPA2B1 CL E G H318152430ORPHA01555033600124
HP:0002380HP:0007089Facial-lingual fasciculations1HNRNPA2B1 CL E G H318152430ORPHA01555033600124
HP:0002380HP:0001308Tongue fasciculations1HNRNPA2B1 CL E G H318152430ORPHA01265033600124
HP:0002380HP:0007089Facial-lingual fasciculations1HNRNPA2B1 CL E G H318152430ORPHA01265033600124
HP:0002380HP:0007289Limb fasciculations1HNRNPA2B1 CL E G H318152430ORPHA01555033600124
HP:0002380HP:0007289Limb fasciculations1HNRNPA2B1 CL E G H318152430ORPHA01265033600124
HP:0002380HP:0007289Limb fasciculations1MAPT CL E G H4137275864ORPHA04656893157140
HP:0002380HP:0001308Tongue fasciculations1MAPT CL E G H4137275864ORPHA04886893157140
HP:0002380HP:0007089Facial-lingual fasciculations1MAPT CL E G H4137275864ORPHA04886893157140
HP:0002380HP:0001308Tongue fasciculations1MAPT CL E G H4137275864ORPHA04656893157140
HP:0002380HP:0007089Facial-lingual fasciculations1MAPT CL E G H4137275864ORPHA04656893157140
HP:0002380HP:0007289Limb fasciculations1MAPT CL E G H4137275864ORPHA04886893157140
HP:0002380HP:0001308Tongue fasciculations1PSEN1 CL E G H5663275864ORPHA04089508104311
HP:0002380HP:0007089Facial-lingual fasciculations1PSEN1 CL E G H5663275864ORPHA04089508104311
HP:0002380HP:0007289Limb fasciculations1PSEN1 CL E G H5663275864ORPHA04319508104311
HP:0002380HP:0007289Limb fasciculations1PSEN1 CL E G H5663275864ORPHA04089508104311
HP:0002380HP:0001308Tongue fasciculations1PSEN1 CL E G H5663275864ORPHA04319508104311
HP:0002380HP:0007089Facial-lingual fasciculations1PSEN1 CL E G H5663275864ORPHA04319508104311
HP:0002380HP:0007289Limb fasciculations1RYR1 CL E G H6261324581ORPHA0410110483180901
HP:0002380HP:0001308Tongue fasciculations1RYR1 CL E G H6261324581ORPHA0460410483180901
HP:0002380HP:0007089Facial-lingual fasciculations1RYR1 CL E G H6261324581ORPHA0460410483180901
HP:0002380HP:0001308Tongue fasciculations1RYR1 CL E G H6261324581ORPHA0410110483180901
HP:0002380HP:0007089Facial-lingual fasciculations1RYR1 CL E G H6261324581ORPHA0410110483180901
HP:0002380HP:0007289Limb fasciculations1RYR1 CL E G H6261324581ORPHA0460410483180901
HP:0002380HP:0007089Facial-lingual fasciculations1SQSTM1 CL E G H8878275872ORPHA038311280601530
HP:0002380HP:0007289Limb fasciculations1SQSTM1 CL E G H8878275864ORPHA038311280601530
HP:0002380HP:0001308Tongue fasciculations1SQSTM1 CL E G H8878275872ORPHA038311280601530
HP:0002380HP:0007289Limb fasciculations1SQSTM1 CL E G H8878275872ORPHA047311280601530
HP:0002380HP:0001308Tongue fasciculations1SQSTM1 CL E G H8878275864ORPHA047311280601530
HP:0002380HP:0007089Facial-lingual fasciculations1SQSTM1 CL E G H8878275864ORPHA047311280601530
HP:0002380HP:0007289Limb fasciculations1SQSTM1 CL E G H8878275872ORPHA038311280601530
HP:0002380HP:0001308Tongue fasciculations1SQSTM1 CL E G H8878275864ORPHA038311280601530
HP:0002380HP:0007089Facial-lingual fasciculations1SQSTM1 CL E G H8878275864ORPHA038311280601530
HP:0002380HP:0007089Facial-lingual fasciculations1SQSTM1 CL E G H8878275872ORPHA047311280601530
HP:0002380HP:0007289Limb fasciculations1SQSTM1 CL E G H8878275864ORPHA047311280601530
HP:0002380HP:0001308Tongue fasciculations1SQSTM1 CL E G H8878275872ORPHA047311280601530
HP:0002380HP:0007289Limb fasciculations1TARDBP CL E G H23435275872ORPHA021411571605078
HP:0002380HP:0001308Tongue fasciculations1TARDBP CL E G H23435275872ORPHA022511571605078
HP:0002380HP:0007089Facial-lingual fasciculations1TARDBP CL E G H23435275872ORPHA022511571605078
HP:0002380HP:0001308Tongue fasciculations1TARDBP CL E G H23435275872ORPHA021411571605078
HP:0002380HP:0007089Facial-lingual fasciculations1TARDBP CL E G H23435275872ORPHA021411571605078
HP:0002380HP:0007289Limb fasciculations1TARDBP CL E G H23435275872ORPHA022511571605078
HP:0002380HP:0007089Facial-lingual fasciculations1TBK1 CL E G H29110275872ORPHA020611584604834
HP:0002380HP:0001308Tongue fasciculations1TBK1 CL E G H29110275872ORPHA020611584604834
HP:0002380HP:0007289Limb fasciculations1TBK1 CL E G H29110275872ORPHA026911584604834
HP:0002380HP:0007289Limb fasciculations1TBK1 CL E G H29110275872ORPHA020611584604834
HP:0002380HP:0001308Tongue fasciculations1TBK1 CL E G H29110275872ORPHA026911584604834
HP:0002380HP:0007089Facial-lingual fasciculations1TBK1 CL E G H29110275872ORPHA026911584604834
HP:0002380HP:0001308Tongue fasciculations1TMEM106B CL E G H54664275864ORPHA06222407613413
HP:0002380HP:0007089Facial-lingual fasciculations1TMEM106B CL E G H54664275864ORPHA06222407613413
HP:0002380HP:0007289Limb fasciculations1TMEM106B CL E G H54664275864ORPHA07422407613413
HP:0002380HP:0007289Limb fasciculations1TMEM106B CL E G H54664275864ORPHA06222407613413
HP:0002380HP:0001308Tongue fasciculations1TMEM106B CL E G H54664275864ORPHA07422407613413
HP:0002380HP:0007089Facial-lingual fasciculations1TMEM106B CL E G H54664275864ORPHA07422407613413
HP:0002380HP:0007289Limb fasciculations1TREM2 CL E G H54209275864ORPHA06417761605086
HP:0002380HP:0001308Tongue fasciculations1TREM2 CL E G H54209275864ORPHA09417761605086
HP:0002380HP:0007089Facial-lingual fasciculations1TREM2 CL E G H54209275864ORPHA09417761605086
HP:0002380HP:0001308Tongue fasciculations1TREM2 CL E G H54209275864ORPHA06417761605086
HP:0002380HP:0007089Facial-lingual fasciculations1TREM2 CL E G H54209275864ORPHA06417761605086
HP:0002380HP:0007289Limb fasciculations1TREM2 CL E G H54209275864ORPHA09417761605086
HP:0002380HP:0007089Facial-lingual fasciculations1VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM029012649605704
HP:0002380HP:0001308Tongue fasciculations1VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM029012649605704
HP:0002380HP:0007089Facial-lingual fasciculations1VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM027512649605704
HP:0002380HP:0001308Tongue fasciculations1VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM027512649605704
HP:0002380HP:0007289Limb fasciculations1VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM029012649605704
HP:0002380HP:0007289Limb fasciculations1VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM027512649605704
HP:0002380HP:0007289Limb fasciculations1VCP CL E G H7415275872ORPHA035612666601023
HP:0002380HP:0001308Tongue fasciculations1VCP CL E G H7415275864ORPHA035612666601023
HP:0002380HP:0007089Facial-lingual fasciculations1VCP CL E G H7415275864ORPHA035612666601023
HP:0002380HP:0007289Limb fasciculations1VCP CL E G H741552430ORPHA039512666601023
HP:0002380HP:0001308Tongue fasciculations1VCP CL E G H7415275872ORPHA039512666601023
HP:0002380HP:0007089Facial-lingual fasciculations1VCP CL E G H7415275872ORPHA039512666601023
HP:0002380HP:0007289Limb fasciculations1VCP CL E G H7415275864ORPHA039512666601023
HP:0002380HP:0007289Limb fasciculations1VCP CL E G H741552430ORPHA035612666601023
HP:0002380HP:0001308Tongue fasciculations1VCP CL E G H7415275872ORPHA035612666601023
HP:0002380HP:0007089Facial-lingual fasciculations1VCP CL E G H7415275872ORPHA035612666601023
HP:0002380HP:0007289Limb fasciculations1VCP CL E G H7415275864ORPHA035612666601023
HP:0002380HP:0001308Tongue fasciculations1VCP CL E G H741552430ORPHA039512666601023
HP:0002380HP:0007089Facial-lingual fasciculations1VCP CL E G H741552430ORPHA039512666601023
HP:0002380HP:0007089Facial-lingual fasciculations1VCP CL E G H7415275864ORPHA039512666601023
HP:0002380HP:0007289Limb fasciculations1VCP CL E G H7415275872ORPHA039512666601023
HP:0002380HP:0001308Tongue fasciculations1VCP CL E G H7415275864ORPHA039512666601023
HP:0002380HP:0001308Tongue fasciculations1VCP CL E G H741552430ORPHA035612666601023
HP:0002380HP:0007089Facial-lingual fasciculations1VCP CL E G H741552430ORPHA035612666601023
HP:0002380HP:0032507Labiomental fasciculations2ATXN1 CL E G H631098755ORPHA07810548601556
HP:0002380HP:0032507Labiomental fasciculations2ATXN1 CL E G H631098755ORPHA07610548601556
HP:0002380HP:0032507Labiomental fasciculations2ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0447106607047
HP:0002380HP:0032507Labiomental fasciculations2BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM050617208609797
HP:0002380HP:0032507Labiomental fasciculations2BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM044517208609797
HP:0002380HP:0032507Labiomental fasciculations2C9orf72 CL E G H203228275872ORPHA016128337614260
HP:0002380HP:0032507Labiomental fasciculations2C9orf72 CL E G H203228275864ORPHA016528337614260
HP:0002380HP:0032507Labiomental fasciculations2C9orf72 CL E G H203228275864ORPHA016128337614260
HP:0002380HP:0032507Labiomental fasciculations2C9orf72 CL E G H203228275872ORPHA016528337614260
HP:0002380HP:0032507Labiomental fasciculations2CEP126 CL E G H5756265684ORPHA03029264614634
HP:0002380HP:0032507Labiomental fasciculations2CEP126 CL E G H5756265684ORPHA02829264614634
HP:0002380HP:0032507Labiomental fasciculations2CHCHD10 CL E G H400916275872ORPHA023015559615903
HP:0002380HP:0032507Labiomental fasciculations2CHCHD10 CL E G H400916275872ORPHA020515559615903
HP:0002380HP:0032507Labiomental fasciculations2CHMP2B CL E G H25978275864ORPHA011024537609512
HP:0002380HP:0032507Labiomental fasciculations2CHMP2B CL E G H25978275864ORPHA013024537609512
HP:0002380HP:0032507Labiomental fasciculations2CPLANE1 CL E G H6525065684ORPHA0123925801614571
HP:0002380HP:0032507Labiomental fasciculations2CPLANE1 CL E G H6525065684ORPHA082425801614571
HP:0002380HP:0032507Labiomental fasciculations2ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM021314415605512
HP:0002380HP:0032507Labiomental fasciculations2ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM017814415605512
HP:0002380HP:0032507Labiomental fasciculations2FUS CL E G H2521275872ORPHA03234010137070
HP:0002380HP:0032507Labiomental fasciculations2FUS CL E G H2521275872ORPHA03394010137070
HP:0002380HP:0032507Labiomental fasciculations2GRN CL E G H2896275864ORPHA03584601138945
HP:0002380HP:0032507Labiomental fasciculations2GRN CL E G H2896275864ORPHA03024601138945
HP:0002380HP:0032507Labiomental fasciculations2HNRNPA1 CL E G H317852430ORPHA0605031164017
HP:0002380HP:0032507Labiomental fasciculations2HNRNPA1 CL E G H317852430ORPHA0595031164017
HP:0002380HP:0032507Labiomental fasciculations2HNRNPA2B1 CL E G H318152430ORPHA01555033600124
HP:0002380HP:0032507Labiomental fasciculations2HNRNPA2B1 CL E G H318152430ORPHA01265033600124
HP:0002380HP:0032507Labiomental fasciculations2MAPT CL E G H4137275864ORPHA04656893157140
HP:0002380HP:0032507Labiomental fasciculations2MAPT CL E G H4137275864ORPHA04886893157140
HP:0002380HP:0032507Labiomental fasciculations2PSEN1 CL E G H5663275864ORPHA04319508104311
HP:0002380HP:0032507Labiomental fasciculations2PSEN1 CL E G H5663275864ORPHA04089508104311
HP:0002380HP:0032507Labiomental fasciculations2RYR1 CL E G H6261324581ORPHA0410110483180901
HP:0002380HP:0032507Labiomental fasciculations2RYR1 CL E G H6261324581ORPHA0460410483180901
HP:0002380HP:0032507Labiomental fasciculations2SQSTM1 CL E G H8878275864ORPHA038311280601530
HP:0002380HP:0032507Labiomental fasciculations2SQSTM1 CL E G H8878275872ORPHA047311280601530
HP:0002380HP:0032507Labiomental fasciculations2SQSTM1 CL E G H8878275872ORPHA038311280601530
HP:0002380HP:0032507Labiomental fasciculations2SQSTM1 CL E G H8878275864ORPHA047311280601530
HP:0002380HP:0032507Labiomental fasciculations2TARDBP CL E G H23435275872ORPHA021411571605078
HP:0002380HP:0032507Labiomental fasciculations2TARDBP CL E G H23435275872ORPHA022511571605078
HP:0002380HP:0032507Labiomental fasciculations2TBK1 CL E G H29110275872ORPHA026911584604834
HP:0002380HP:0032507Labiomental fasciculations2TBK1 CL E G H29110275872ORPHA020611584604834
HP:0002380HP:0032507Labiomental fasciculations2TMEM106B CL E G H54664275864ORPHA07422407613413
HP:0002380HP:0032507Labiomental fasciculations2TMEM106B CL E G H54664275864ORPHA06222407613413
HP:0002380HP:0032507Labiomental fasciculations2TREM2 CL E G H54209275864ORPHA06417761605086
HP:0002380HP:0032507Labiomental fasciculations2TREM2 CL E G H54209275864ORPHA09417761605086
HP:0002380HP:0032507Labiomental fasciculations2VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM029012649605704
HP:0002380HP:0032507Labiomental fasciculations2VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM027512649605704
HP:0002380HP:0032507Labiomental fasciculations2VCP CL E G H7415275872ORPHA035612666601023
HP:0002380HP:0032507Labiomental fasciculations2VCP CL E G H741552430ORPHA039512666601023
HP:0002380HP:0032507Labiomental fasciculations2VCP CL E G H7415275864ORPHA039512666601023
HP:0002380HP:0032507Labiomental fasciculations2VCP CL E G H741552430ORPHA035612666601023
HP:0002380HP:0032507Labiomental fasciculations2VCP CL E G H7415275864ORPHA035612666601023
HP:0002380HP:0032507Labiomental fasciculations2VCP CL E G H7415275872ORPHA039512666601023


Genes (64) :AIFM1 ANO10 AR ASAH1 ATAD1 ATXN1 ATXN2 ATXN3 BICD2 C9ORF72 CEP126 CHCHD10 CHMP2B CPLANE1 ELOVL4 EXOSC3 EXOSC9 FBXO38 FUS GLA GLRA1 GLRB GPHN GRN HEXB HINT1 HNRNPA1 HNRNPA2B1 HSPB1 KIF1C LRSAM1 MAPT MORC2 NOP56 OPTN PFN1 PNPLA2 PSAP PSEN1 RMND1 RYR1 SCN4A SCO2 SH3TC2 SLC52A2 SLC52A3 SLC6A5 SMN1 SOD1 SPG11 SQSTM1 TARDBP TBCD TBK1 TFG TMEM106B TREM2 TSPYL1 UBA1 UCHL1 VAPB VCP VPS13D VRK1

Diseases (70) :300816 284289 613728 313200 3197 98755 98756 183090 109150 615290 275864 275872 65684 615048 614696 133190 618065 615575 608030 301500 268800 137200 52430 606595 397946 611302 614436 616688 614808 98908 610717 611721 324581 682 521411 105400 602099 616437 616439 604484 615491 182980 608627 329478 613954 607317 607596 238329 159950 276244 276238 276241 614678 324442 99940 276198 614153 613435 614922 601596 614707 211530 253400 271150 253550 253300 617193 608800 301830 329475
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.