Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002380 | HP:0002380 | Fasciculations | 0 | ADPRS CL E G H | 54936 | 21304 | OMIM:618170 | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | | | | | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | AGTPBP1 CL E G H | 23287 | 17258 | OMIM:618276 | Neurodegeneration, childhood-onset, with cerebellar atrophy | | | | 1 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | AGTPBP1 CL E G H | 23287 | 17258 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 1 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300816 | Combined oxidative phosphorylation deficiency 6 | . | | | 60 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:238329 | Severe X-linked mitochondrial encephalomyopathy | | | | 60 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | ANO10 CL E G H | 55129 | 25519 | ORPHA:284289 | Adult-onset autosomal recessive cerebellar ataxia | HP:0040282 - Frequent | | | 64 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | ANO10 CL E G H | 55129 | 25519 | OMIM:613728 | Spinocerebellar ataxia, autosomal recessive 10 | . | | | 64 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | ANXA11 CL E G H | 311 | 535 | OMIM:619733 | INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA | | | | | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | AR CL E G H | 367 | 644 | OMIM:313200 | Spinal and bulbar muscular atrophy, X-linked 1 | . | | | 125 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | ASAH1 CL E G H | 427 | 735 | OMIM:159950 | Spinal muscular atrophy with progressive myoclonic epilepsy | . | | | 78 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | ATAD1 CL E G H | 84896 | 25903 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040281 - Very frequent | | | | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | ATP11A CL E G H | 23250 | 13552 | OMIM:619851 | LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24 | | | | | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 239 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | ATXN1 CL E G H | 6310 | 10548 | OMIM:164400 | Spinocerebellar ataxia 1 | | | | 19 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | ATXN1 CL E G H | 6310 | 10548 | ORPHA:98755 | Spinocerebellar ataxia type 1 | HP:0040283 - Occasional | | | 19 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | ATXN10 CL E G H | 25814 | 10549 | OMIM:603516 | Spinocerebellar ataxia 10 | | | | 9 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:183090 | Spinocerebellar ataxia 2 | . | | | 11 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:98756 | Spinocerebellar ataxia type 2 | HP:0040282 - Frequent | | | 11 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | ATXN3 CL E G H | 4287 | 7106 | OMIM:109150 | Machado-Joseph disease | | | | 14 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276238 | Machado-Joseph disease type 1 | | | | 14 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276241 | Machado-Joseph disease type 2 | | | | 14 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276244 | Machado-Joseph disease type 3 | | | | 14 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | BICD2 CL E G H | 23299 | 17208 | OMIM:615290 | Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant | HP:0040283 - Occasional | | | 46 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040283 - Occasional | | | 56 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040283 - Occasional | | | 56 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 449 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | CCNF CL E G H | 899 | 1591 | OMIM:619141 | FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5 | | | | | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | CEP126 CL E G H | 57562 | 29264 | ORPHA:65684 | Monomelic amyotrophy | HP:0040283 - Occasional | | | | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040283 - Occasional | | | 11 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:276435 | Lower motor neuron syndrome with late-adult onset | HP:0040282 - Frequent | | | 11 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:615048 | Spinal muscular atrophy, Jokela type | . | | | 11 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040283 - Occasional | | | 42 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040283 - Occasional | | | 3 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:65684 | Monomelic amyotrophy | HP:0040283 - Occasional | | | | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | . | | | 86 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | EGR2 CL E G H | 1959 | 3239 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 58 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:133190 | Spinocerebellar ataxia 34 | HP:0040283 - Occasional | | | 62 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | ERGIC1 CL E G H | 57222 | 29205 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040283 - Occasional | | | | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | EXOSC3 CL E G H | 51010 | 17944 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 38 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | EXOSC3 CL E G H | 51010 | 17944 | OMIM:614678 | Pontocerebellar hypoplasia, type 1B | | | | 38 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | EXOSC8 CL E G H | 11340 | 17035 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 4 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | EXOSC8 CL E G H | 11340 | 17035 | OMIM:616081 | Pontocerebellar hypoplasia, type 1C | | | | 4 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | EXOSC9 CL E G H | 5393 | 9137 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | EXOSC9 CL E G H | 5393 | 9137 | OMIM:618065 | Pontocerebellar hypoplasia, type 1D | . | | | | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | FBXO38 CL E G H | 81545 | 28844 | OMIM:615575 | Neuronopathy, distal hereditary motor, type IID | | | | 1 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | FUS CL E G H | 2521 | 4010 | OMIM:608030 | Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia | . | | | 105 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040283 - Occasional | | | 105 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | FXR1 CL E G H | 8087 | 4023 | OMIM:618823 | MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL | | | | | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | FXR1 CL E G H | 8087 | 4023 | OMIM:618822 | MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF | | | | | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | GLA CL E G H | 2717 | 4296 | OMIM:301500 | Fabry disease | . | | | 291 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | GLRA1 CL E G H | 2741 | 4326 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040281 - Very frequent | | | 63 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | GLRB CL E G H | 2743 | 4329 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040281 - Very frequent | | | 46 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | GPHN CL E G H | 10243 | 15465 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040281 - Very frequent | | | 18 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | GRN CL E G H | 2896 | 4601 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040283 - Occasional | | | 126 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | HEXB CL E G H | 3074 | 4879 | OMIM:268800 | Sandhoff disease | . | | | 80 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | HEXB CL E G H | 3074 | 4879 | ORPHA:309169 | Sandhoff disease, adult form | | | | 80 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | HEXB CL E G H | 3074 | 4879 | ORPHA:309162 | Sandhoff disease, juvenile form | | | | 80 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | | | | 12 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | HINT1 CL E G H | 3094 | 4912 | OMIM:137200 | Neuromyotonia and axonal neuropathy, autosomal recessive | . | | | 12 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | HNRNPA1 CL E G H | 3178 | 5031 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | HP:0040283 - Occasional | | | 31 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | HNRNPA2B1 CL E G H | 3181 | 5033 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | HP:0040283 - Occasional | | | 5 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | HSPB1 CL E G H | 3315 | 5246 | ORPHA:99940 | Autosomal dominant Charcot-Marie-Tooth disease type 2F | | | | 47 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | HSPB1 CL E G H | 3315 | 5246 | OMIM:606595 | Charcot-Marie-Tooth disease, axonal, type 2F | . | | | 47 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:619574 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH | | | | 257 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | KCNK9 CL E G H | 51305 | 6283 | ORPHA:166108 | Intellectual disability, Birk-Barel type | | | | 4 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | KIF1C CL E G H | 10749 | 6317 | ORPHA:397946 | Autosomal spastic paraplegia type 58 | HP:0040281 - Very frequent | | | 38 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | KIF1C CL E G H | 10749 | 6317 | OMIM:611302 | Spastic ataxia 2, autosomal recessive | . | | | 38 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | LGI3 CL E G H | 203190 | 18711 | OMIM:620007 | | | | | | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | LRSAM1 CL E G H | 90678 | 25135 | OMIM:614436 | Charcot-Marie-Tooth disease, axonal, type 2P | . | | | 102 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040283 - Occasional | | | 140 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | MEGF10 CL E G H | 84466 | 29634 | OMIM:614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | | | | 158 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | HP:0040282 - Frequent | | | 3 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | HP:0040283 - Occasional | | | 8 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | MORC2 CL E G H | 22880 | 23573 | OMIM:616688 | Charcot-Marie-Tooth disease, axonal, type 2Z | . | | | 8 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 134 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | | | | 27 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | NEFH CL E G H | 4744 | 7737 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | . | | | 24 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | NEFL CL E G H | 4747 | 7739 | ORPHA:101085 | Charcot-Marie-Tooth disease type 1F | HP:0040283 - Occasional | | | 118 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | NOP56 CL E G H | 10528 | 15911 | OMIM:614153 | Spinocerebellar ataxia 36 | | | | 9 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | NOP56 CL E G H | 10528 | 15911 | ORPHA:276198 | Spinocerebellar ataxia type 36 | HP:0040282 - Frequent | | | 9 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | OPTN CL E G H | 10133 | 17142 | OMIM:613435 | Amyotrophic lateral sclerosis 12 | | | | 62 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | PFN1 CL E G H | 5216 | 8881 | OMIM:614808 | AMYOTROPHIC LATERAL SCLEROSIS 18; ALS18 | | | | 6 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 79 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | PNPLA2 CL E G H | 57104 | 30802 | OMIM:610717 | Neutral lipid storage disease with myopathy | . | | | 65 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:98908 | Neutral lipid storage myopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | PRPH CL E G H | 5630 | 9461 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | . | | | 25 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 94 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | PRUNE1 CL E G H | 58497 | 13420 | ORPHA:544469 | PRUNE1-related neurological syndrome | | | | 8 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | PRX CL E G H | 57716 | 13797 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 170 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:611721 | Combined saposin deficiency | . | | | 81 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040283 - Occasional | | | 241 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | RAB7A CL E G H | 7879 | 9788 | OMIM:600882 | Charcot-Marie-Tooth disease, axonal, type 2B | | | | 50 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | RMND1 CL E G H | 55005 | 21176 | OMIM:614922 | Combined oxidative phosphorylation deficiency 11 | | | | 26 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:324581 | Benign Samaritan congenital myopathy | HP:0040283 - Occasional | | | 1200 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 1053 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:682 | Hyperkalemic periodic paralysis | HP:0040282 - Frequent | | | 263 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | SCO2 CL E G H | 9997 | 10604 | ORPHA:521411 | Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect | HP:0040282 - Frequent | | | 40 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | SCYL2 CL E G H | 55681 | 19286 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040283 - Occasional | | | | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | | | | 493 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | SH3TC2 CL E G H | 79628 | 29427 | OMIM:601596 | Charcot-Marie-Tooth disease, type 4C | | | | 493 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | SLC25A21 CL E G H | 89874 | 14411 | OMIM:618811 | MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18 | | | | | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | SLC25A46 CL E G H | 91137 | 25198 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 14 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | SLC52A2 CL E G H | 79581 | 30224 | OMIM:614707 | Brown-Vialetto-Van laere syndrome 2 | | | | 47 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | SLC52A3 CL E G H | 113278 | 16187 | OMIM:211530 | Brown-Vialetto-Van laere syndrome 1 | | | | 51 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | SLC6A5 CL E G H | 9152 | 11051 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040281 - Very frequent | | | 81 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:253300 | Spinal muscular atrophy, type I | | | | 22 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:253550 | Spinal muscular atrophy, type II | | | | 22 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:253400 | Spinal muscular atrophy, type III | | | | 22 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:271150 | Spinal muscular atrophy, type IV | | | | 22 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | SMN2 CL E G H | 6607 | 11118 | OMIM:253400 | Spinal muscular atrophy, type III | | | | 1 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | SOD1 CL E G H | 6647 | 11179 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | . | | | 53 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | SOD1 CL E G H | 6647 | 11179 | OMIM:618598 | SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP | | | | 53 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | SPG11 CL E G H | 80208 | 11226 | OMIM:602099 | Amyotrophic lateral sclerosis 5, juvenile | . | | | 287 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | SPTLC1 CL E G H | 10558 | 11277 | OMIM:162400 | Neuropathy, hereditary sensory and autonomic, type IA | | | | 54 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040283 - Occasional | | | 62 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:616437 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | . | | | 62 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040283 - Occasional | | | 62 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:88644 | Autosomal recessive ataxia, Beauce type | HP:0040282 - Frequent | | | 1129 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | SYT2 CL E G H | 127833 | 11510 | OMIM:619461 | MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B | | | | 4 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | TARDBP CL E G H | 23435 | 11571 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040283 - Occasional | | | 65 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | TBCD CL E G H | 6904 | 11581 | ORPHA:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | TBCD CL E G H | 6904 | 11581 | OMIM:617193 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT | | | | 16 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | TBK1 CL E G H | 29110 | 11584 | OMIM:616439 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | . | | | 20 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | TBK1 CL E G H | 29110 | 11584 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040283 - Occasional | | | 20 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | TFG CL E G H | 10342 | 11758 | ORPHA:90117 | Hereditary motor and sensory neuropathy, Okinawa type | | | | 18 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | TFG CL E G H | 10342 | 11758 | OMIM:604484 | Neuropathy, hereditary motor and sensory, Okinawa type | . | | | 18 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | TMEM106B CL E G H | 54664 | 22407 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040283 - Occasional | | | | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | TOE1 CL E G H | 114034 | 15954 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | HP:0040282 - Frequent | | | 6 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | TOE1 CL E G H | 114034 | 15954 | OMIM:614969 | Pontocerebellar hypoplasia, type 7 | | | | 6 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040283 - Occasional | | | 31 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | TSPYL1 CL E G H | 7259 | 12382 | OMIM:608800 | Sudden infant death with dysgenesis of the testes syndrome | | | | 1 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | UBA1 CL E G H | 7317 | 12469 | ORPHA:1145 | Infantile-onset X-linked spinal muscular atrophy | | | | 35 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | UBA1 CL E G H | 7317 | 12469 | OMIM:301830 | Spinal muscular atrophy, X-linked 2 | | | | 35 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | UCHL1 CL E G H | 7345 | 12513 | OMIM:615491 | Spastic paraplegia 79, autosomal recessive | . | | | 21 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | VAPB CL E G H | 9217 | 12649 | OMIM:608627 | Amyotrophic lateral sclerosis 8 | | | | 116 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | VAPB CL E G H | 9217 | 12649 | OMIM:182980 | Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included | . | | | 116 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:329478 | Adult-onset distal myopathy due to VCP mutation | HP:0040282 - Frequent | | | 63 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | VCP CL E G H | 7415 | 12666 | OMIM:613954 | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | . | | | 63 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040283 - Occasional | | | 63 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040283 - Occasional | | | 63 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | HP:0040283 - Occasional | | | 63 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:329475 | Spastic paraplegia-Paget disease of bone syndrome | | | | 63 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | VPS13D CL E G H | 55187 | 23595 | ORPHA:95434 | Autosomal recessive cerebellar ataxia-movement disorder syndrome | HP:0040282 - Frequent | | | | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | VPS13D CL E G H | 55187 | 23595 | OMIM:607317 | Spinocerebellar ataxia, autosomal recessive 4 | . | | | | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | VPS41 CL E G H | 27072 | 12713 | ORPHA:95434 | Autosomal recessive cerebellar ataxia-movement disorder syndrome | HP:0040282 - Frequent | | | | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | VRK1 CL E G H | 7443 | 12718 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 32 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | VRK1 CL E G H | 7443 | 12718 | OMIM:607596 | Pontocerebellar hypoplasia type 1A | . | | | 32 | | |
HP:0002380 | HP:0002380 | Fasciculations | 0 | VWA1 CL E G H | 64856 | 30910 | OMIM:619216 | NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO | | | | | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | ADPRS CL E G H | 54936 | 21304 | OMIM:618170 | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | . | | | | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | AGTPBP1 CL E G H | 23287 | 17258 | OMIM:618276 | Neurodegeneration, childhood-onset, with cerebellar atrophy | HP:0040284 - Very rare | | | 1 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | AGTPBP1 CL E G H | 23287 | 17258 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 1 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300816 | Combined oxidative phosphorylation deficiency 6 | | | | 60 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:238329 | Severe X-linked mitochondrial encephalomyopathy | HP:0040282 - Frequent | | | 60 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | ASAH1 CL E G H | 427 | 735 | OMIM:159950 | Spinal muscular atrophy with progressive myoclonic epilepsy | . | | | 78 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | ATP11A CL E G H | 23250 | 13552 | OMIM:619851 | LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24 | | | | | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | ATP1A2 CL E G H | 477 | 800 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 239 | | |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | ATXN10 CL E G H | 25814 | 10549 | OMIM:603516 | Spinocerebellar ataxia 10 | | | | 9 | | |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | ATXN3 CL E G H | 4287 | 7106 | OMIM:109150 | Machado-Joseph disease | . | | | 14 | | |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276238 | Machado-Joseph disease type 1 | HP:0040282 - Frequent | | | 14 | | |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276241 | Machado-Joseph disease type 2 | HP:0040282 - Frequent | | | 14 | | |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276244 | Machado-Joseph disease type 3 | HP:0040282 - Frequent | | | 14 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | CACNA1A CL E G H | 773 | 1388 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 449 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:276435 | Lower motor neuron syndrome with late-adult onset | HP:0040283 - Occasional | | | 11 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | EGR2 CL E G H | 1959 | 3239 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 58 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | EXOSC3 CL E G H | 51010 | 17944 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 38 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | EXOSC3 CL E G H | 51010 | 17944 | OMIM:614678 | Pontocerebellar hypoplasia, type 1B | . | | | 38 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | EXOSC8 CL E G H | 11340 | 17035 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 4 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | EXOSC8 CL E G H | 11340 | 17035 | OMIM:616081 | Pontocerebellar hypoplasia, type 1C | | | | 4 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | EXOSC9 CL E G H | 5393 | 9137 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | EXOSC9 CL E G H | 5393 | 9137 | OMIM:618065 | Pontocerebellar hypoplasia, type 1D | | | | | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | FXR1 CL E G H | 8087 | 4023 | OMIM:618823 | MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL | | | | | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | FXR1 CL E G H | 8087 | 4023 | OMIM:618822 | MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF | | | | | | |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | HP:0040282 - Frequent | | | 12 | | |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | HSPB1 CL E G H | 3315 | 5246 | ORPHA:99940 | Autosomal dominant Charcot-Marie-Tooth disease type 2F | HP:0040281 - Very frequent | | | 47 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | KCNK9 CL E G H | 51305 | 6283 | ORPHA:166108 | Intellectual disability, Birk-Barel type | HP:0040283 - Occasional | | | 4 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | LGI3 CL E G H | 203190 | 18711 | OMIM:620007 | | | | | | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | MEGF10 CL E G H | 84466 | 29634 | OMIM:614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | | | | 158 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | MPZ CL E G H | 4359 | 7225 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 134 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | | | | 27 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | NOP56 CL E G H | 10528 | 15911 | OMIM:614153 | Spinocerebellar ataxia 36 | | | | 9 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | NOP56 CL E G H | 10528 | 15911 | ORPHA:276198 | Spinocerebellar ataxia type 36 | HP:0040282 - Frequent | | | 9 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | OPTN CL E G H | 10133 | 17142 | OMIM:613435 | Amyotrophic lateral sclerosis 12 | . | | | 62 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | PMP22 CL E G H | 5376 | 9118 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 79 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 94 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | PRUNE1 CL E G H | 58497 | 13420 | ORPHA:544469 | PRUNE1-related neurological syndrome | | | | 8 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | PRX CL E G H | 57716 | 13797 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 170 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | RMND1 CL E G H | 55005 | 21176 | OMIM:614922 | Combined oxidative phosphorylation deficiency 11 | HP:0040283 - Occasional | | | 26 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | SCN1A CL E G H | 6323 | 10585 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 1053 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | HP:0040283 - Occasional | | | 493 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | SH3TC2 CL E G H | 79628 | 29427 | OMIM:601596 | Charcot-Marie-Tooth disease, type 4C | . | | | 493 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | SLC25A21 CL E G H | 89874 | 14411 | OMIM:618811 | MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18 | | | | | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | SLC25A46 CL E G H | 91137 | 25198 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 14 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | SLC52A2 CL E G H | 79581 | 30224 | OMIM:614707 | Brown-Vialetto-Van laere syndrome 2 | . | | | 47 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | SLC52A3 CL E G H | 113278 | 16187 | OMIM:211530 | Brown-Vialetto-Van laere syndrome 1 | . | | | 51 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | SMN1 CL E G H | 6606 | 11117 | OMIM:253300 | Spinal muscular atrophy, type I | . | | | 22 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | SMN1 CL E G H | 6606 | 11117 | OMIM:253550 | Spinal muscular atrophy, type II | . | | | 22 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | SMN1 CL E G H | 6606 | 11117 | OMIM:253400 | Spinal muscular atrophy, type III | . | | | 22 | | |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | SMN1 CL E G H | 6606 | 11117 | OMIM:253400 | Spinal muscular atrophy, type III | . | | | 22 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | SMN1 CL E G H | 6606 | 11117 | OMIM:271150 | Spinal muscular atrophy, type IV | . | | | 22 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | SMN2 CL E G H | 6607 | 11118 | OMIM:253400 | Spinal muscular atrophy, type III | . | | | 1 | | |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | SMN2 CL E G H | 6607 | 11118 | OMIM:253400 | Spinal muscular atrophy, type III | . | | | 1 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | SPTLC1 CL E G H | 10558 | 11277 | OMIM:162400 | Neuropathy, hereditary sensory and autonomic, type IA | | | | 54 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | SYT2 CL E G H | 127833 | 11510 | OMIM:619461 | MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B | | | | 4 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | TBCD CL E G H | 6904 | 11581 | OMIM:617193 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT | | | | 16 | | |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | TFG CL E G H | 10342 | 11758 | ORPHA:90117 | Hereditary motor and sensory neuropathy, Okinawa type | HP:0040282 - Frequent | | | 18 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | TOE1 CL E G H | 114034 | 15954 | OMIM:614969 | Pontocerebellar hypoplasia, type 7 | | | | 6 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | TSPYL1 CL E G H | 7259 | 12382 | OMIM:608800 | Sudden infant death with dysgenesis of the testes syndrome | . | | | 1 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | UBA1 CL E G H | 7317 | 12469 | ORPHA:1145 | Infantile-onset X-linked spinal muscular atrophy | HP:0040283 - Occasional | | | 35 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | UBA1 CL E G H | 7317 | 12469 | OMIM:301830 | Spinal muscular atrophy, X-linked 2 | . | | | 35 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:329475 | Spastic paraplegia-Paget disease of bone syndrome | HP:0040282 - Frequent | | | 63 | | |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:329475 | Spastic paraplegia-Paget disease of bone syndrome | HP:0040282 - Frequent | | | 63 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | VRK1 CL E G H | 7443 | 12718 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 32 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | VRK1 CL E G H | 7443 | 12718 | OMIM:607596 | Pontocerebellar hypoplasia type 1A | | | | 32 | | |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | VWA1 CL E G H | 64856 | 30910 | OMIM:619216 | NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO | | | | | | |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | CL E G H | | | | | | | | | | |