Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | AGRN CL E G H | 375790 | 329 | OMIM:615120 | Myasthenic syndrome, congenital, 8 | | | | 127 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 127 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 127 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | AK9 CL E G H | 221264 | 33814 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 1 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | ALG14 CL E G H | 199857 | 28287 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | | | | 12 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | ALG14 CL E G H | 199857 | 28287 | OMIM:616227 | Myasthenic syndrome, congenital, 15 | | | | 12 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | ALG14 CL E G H | 199857 | 28287 | OMIM:619036 | MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA | | | | 12 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | ALG2 CL E G H | 85365 | 23159 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | | | | 46 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | BIN1 CL E G H | 274 | 1052 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | | | | 99 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | CACNA1D CL E G H | 776 | 1391 | ORPHA:369929 | Primary hyperaldosteronism-seizures-neurological abnormalities syndrome | HP:0040282 - Frequent | | | 51 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | CHAT CL E G H | 1103 | 1912 | OMIM:254210 | Myasthenic syndrome, congenital, 6, presynaptic | | | | 65 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 65 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:608930 | Myasthenic syndrome, congenital, 1B, fast-channel | | | | 74 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | CHRNA1 CL E G H | 1134 | 1955 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 74 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | CHRNB1 CL E G H | 1140 | 1961 | OMIM:616313 | Myasthenic syndrome, congenital, 2A, slow-channel | | | | 53 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | CHRNB1 CL E G H | 1140 | 1961 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 53 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | CHRND CL E G H | 1144 | 1965 | OMIM:616321 | Myasthenic syndrome, congenital, 3A, slow-channel | | | | 88 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | CHRND CL E G H | 1144 | 1965 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 88 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:605809 | Myasthenic syndrome, congenital, 4A, slow-channel | | | | 139 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | | | | 139 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | CHRNE CL E G H | 1145 | 1966 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 139 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 6 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 6 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | COLQ CL E G H | 8292 | 2226 | OMIM:603034 | Myasthenic syndrome, congenital, 5 | | | | 90 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | COLQ CL E G H | 8292 | 2226 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | | | | 90 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | DOK7 CL E G H | 285489 | 26594 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 91 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | | | | 38 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | DPAGT1 CL E G H | 1798 | 2995 | OMIM:614750 | Myasthenic syndrome, congenital, 13, with tubular aggregates | | | | 38 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | GFPT1 CL E G H | 2673 | 4241 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | | | | 128 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | GFPT1 CL E G H | 2673 | 4241 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | | | | 128 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | GFPT1 CL E G H | 2673 | 4241 | OMIM:610542 | Myasthenic syndrome, congenital, with tubular aggregates 1 | | | | 128 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | | | | 34 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:363623 | GMPPB-related limb-girdle muscular dystrophy R19 | | | | 34 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | LAMB2 CL E G H | 3913 | 6487 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | | | | 92 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | LRP4 CL E G H | 4038 | 6696 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 124 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | MUSK CL E G H | 4593 | 7525 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 72 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | MYL1 CL E G H | 4632 | 7582 | OMIM:618414 | Myopathy, congenital, with fast-twitch (type ii) fiber atrophy | | | | | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:603472 | NEURONAL INTRANUCLEAR INCLUSION DISEASE | | | | | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | OPA1 CL E G H | 4976 | 8140 | ORPHA:1215 | Autosomal dominant optic atrophy plus syndrome | HP:0040282 - Frequent | | | 214 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | RAPSN CL E G H | 5913 | 9863 | OMIM:616326 | Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | | | | 73 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | RAPSN CL E G H | 5913 | 9863 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 73 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | | | | 1200 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 263 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 28 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 9 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | SPEG CL E G H | 10290 | 16901 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | | | | 20 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | SYT2 CL E G H | 127833 | 11510 | OMIM:619461 | MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B | | | | 4 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 4 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | | | | 7128 | | |
HP:0100285 | HP:0100285 | EMG: impaired neuromuscular transmission | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
HP:0100285 | HP:0030206 | EMG: incremental response of compound muscle action potential to repetitive nerve stimulation | 1 | CL E G H | | | | | | | | | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | AGRN CL E G H | 375790 | 329 | OMIM:615120 | Myasthenic syndrome, congenital, 8 | | | | 127 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | AGRN CL E G H | 375790 | 329 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 127 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | AK9 CL E G H | 221264 | 33814 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 1 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | ALG14 CL E G H | 199857 | 28287 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040282 - Frequent | | | 12 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | ALG14 CL E G H | 199857 | 28287 | OMIM:616227 | Myasthenic syndrome, congenital, 15 | | | | 12 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | ALG14 CL E G H | 199857 | 28287 | OMIM:619036 | MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA | | | | 12 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | ALG2 CL E G H | 85365 | 23159 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040282 - Frequent | | | 46 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | BIN1 CL E G H | 274 | 1052 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040283 - Occasional | | | 99 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | CHAT CL E G H | 1103 | 1912 | OMIM:254210 | Myasthenic syndrome, congenital, 6, presynaptic | . | | | 65 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:608930 | Myasthenic syndrome, congenital, 1B, fast-channel | | | | 74 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | CHRNA1 CL E G H | 1134 | 1955 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 74 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | CHRNB1 CL E G H | 1140 | 1961 | OMIM:616313 | Myasthenic syndrome, congenital, 2A, slow-channel | | | | 53 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | CHRNB1 CL E G H | 1140 | 1961 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 53 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | CHRND CL E G H | 1144 | 1965 | OMIM:616321 | Myasthenic syndrome, congenital, 3A, slow-channel | | | | 88 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | CHRND CL E G H | 1144 | 1965 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 88 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | CHRNE CL E G H | 1145 | 1966 | OMIM:605809 | Myasthenic syndrome, congenital, 4A, slow-channel | . | | | 139 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | CHRNE CL E G H | 1145 | 1966 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | . | | | 139 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | CHRNE CL E G H | 1145 | 1966 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 139 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 6 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | COLQ CL E G H | 8292 | 2226 | OMIM:603034 | Myasthenic syndrome, congenital, 5 | . | | | 90 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | COLQ CL E G H | 8292 | 2226 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 90 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | DOK7 CL E G H | 285489 | 26594 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 91 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040282 - Frequent | | | 38 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | DPAGT1 CL E G H | 1798 | 2995 | OMIM:614750 | Myasthenic syndrome, congenital, 13, with tubular aggregates | | | | 38 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | GFPT1 CL E G H | 2673 | 4241 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040282 - Frequent | | | 128 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | GFPT1 CL E G H | 2673 | 4241 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | . | | | 128 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | GFPT1 CL E G H | 2673 | 4241 | OMIM:610542 | Myasthenic syndrome, congenital, with tubular aggregates 1 | . | | | 128 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | GMPPB CL E G H | 29925 | 22932 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040282 - Frequent | | | 34 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | GMPPB CL E G H | 29925 | 22932 | ORPHA:363623 | GMPPB-related limb-girdle muscular dystrophy R19 | HP:0040283 - Occasional | | | 34 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | LAMB2 CL E G H | 3913 | 6487 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 92 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | LRP4 CL E G H | 4038 | 6696 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 124 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | MUSK CL E G H | 4593 | 7525 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 72 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | MYL1 CL E G H | 4632 | 7582 | OMIM:618414 | Myopathy, congenital, with fast-twitch (type ii) fiber atrophy | | | | | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:603472 | NEURONAL INTRANUCLEAR INCLUSION DISEASE | | | | | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | RAPSN CL E G H | 5913 | 9863 | OMIM:616326 | Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | | | | 73 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | RAPSN CL E G H | 5913 | 9863 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 73 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040283 - Occasional | | | 1200 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | SCN4A CL E G H | 6329 | 10591 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 263 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | SPEG CL E G H | 10290 | 16901 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040283 - Occasional | | | 20 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | SYT2 CL E G H | 127833 | 11510 | OMIM:619461 | MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B | | | | 4 | | |
HP:0100285 | HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 1 | TTN CL E G H | 7273 | 12403 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040283 - Occasional | | | 7128 | | |