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:0010628 | HP:0010628 | Facial palsy | 0 | ABCA1 CL E G H | 19 | 29 | ORPHA:31150 | Tangier disease | | | | 191 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ABCA1 CL E G H | 19 | 29 | OMIM:205400 | Tangier disease | | | | 191 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ACADS CL E G H | 35 | 90 | OMIM:201470 | Acyl-Coa dehydrogenase, short-chain, deficiency of | . | | | 90 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 96 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040282 - Frequent | | | 96 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 96 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:616852 | Myopathy, scapulohumeroperoneal | | | | 96 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:161800 | Nemaline myopathy 3 | . | | | 96 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040282 - Frequent | | | 96 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171436 | Typical nemaline myopathy | HP:0040282 - Frequent | | | 96 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:97240 | Zebra body myopathy | HP:0040281 - Very frequent | | | 96 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:182410 | Sneddon syndrome | . | | | 22 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ADCY6 CL E G H | 112 | 237 | OMIM:616287 | Lethal congenital contracture syndrome 8 | | | | 2 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ADGRG1 CL E G H | 9289 | 4512 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 88 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ADSS1 CL E G H | 122622 | 20093 | OMIM:617030 | Myopathy, distal, 5 | . | | | | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 127 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 127 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | AK9 CL E G H | 221264 | 33814 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 1 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 54 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ALG14 CL E G H | 199857 | 28287 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 12 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ALG2 CL E G H | 85365 | 23159 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 46 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | . | | | 34 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | AMER1 CL E G H | 139285 | 26837 | ORPHA:2780 | Osteopathia striata-cranial sclerosis syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ANKH CL E G H | 56172 | 15492 | ORPHA:1522 | Craniometaphyseal dysplasia | HP:0040283 - Occasional | | | 164 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ANKH CL E G H | 56172 | 15492 | OMIM:123000 | Craniometaphyseal dysplasia, autosomal dominant | . | | | 164 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ANO5 CL E G H | 203859 | 27337 | ORPHA:206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 | HP:0040283 - Occasional | | | 304 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ANO5 CL E G H | 203859 | 27337 | OMIM:611307 | Muscular dystrophy, limb-girdle, type 2L | . | | | 304 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ASAH1 CL E G H | 427 | 735 | OMIM:159950 | Spinal muscular atrophy with progressive myoclonic epilepsy | . | | | 78 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | BAG3 CL E G H | 9531 | 939 | OMIM:612954 | Myopathy, myofibrillar, 6 | . | | | 204 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 184 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | BIN1 CL E G H | 274 | 1052 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040282 - Frequent | | | 99 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | BIN1 CL E G H | 274 | 1052 | OMIM:255200 | Myopathy, centronuclear, 2 | . | | | 99 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | BMS1 CL E G H | 9790 | 23505 | ORPHA:1114 | Aplasia cutis congenita | HP:0040283 - Occasional | | | 1 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | HP:0040283 - Occasional | | | 1 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | BTNL2 CL E G H | 56244 | 1142 | OMIM:612387 | Sarcoidosis, susceptibility to, 2 | . | | | 1 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CAPN3 CL E G H | 825 | 1480 | OMIM:253600 | Muscular dystrophy, limb-girdle, type 2A | HP:0040283 - Occasional | | | 323 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CFL2 CL E G H | 1073 | 1875 | ORPHA:171436 | Typical nemaline myopathy | HP:0040282 - Frequent | | | 35 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 65 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:616209 | Myopathy, isolated mitochondrial, autosomal dominant | . | | | 11 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | HP:0040282 - Frequent | | | 515 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CHKB CL E G H | 1120 | 1938 | OMIM:602541 | Muscular dystrophy, congenital, Megaconial type | . | | | 53 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:608930 | Myasthenic syndrome, congenital, 1B, fast-channel | . | | | 74 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CHRNA1 CL E G H | 1134 | 1955 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 74 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CHRNB1 CL E G H | 1140 | 1961 | OMIM:616313 | Myasthenic syndrome, congenital, 2A, slow-channel | . | | | 53 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CHRNB1 CL E G H | 1140 | 1961 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 53 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CHRND CL E G H | 1144 | 1965 | OMIM:616322 | Myasthenic syndrome, congenital, 3B, fast-channel | . | | | 88 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CHRND CL E G H | 1144 | 1965 | OMIM:616323 | Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency | . | | | 88 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CHRND CL E G H | 1144 | 1965 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 88 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:616324 | Myasthenic syndrome, congenital, 4B, fast-channel | . | | | 139 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | . | | | 139 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CHRNE CL E G H | 1145 | 1966 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 139 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:53 | Albers-Schönberg osteopetrosis | HP:0040281 - Very frequent | | | 102 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CLCN7 CL E G H | 1186 | 2025 | OMIM:166600 | Osteopetrosis, autosomal dominant 2 | . | | | 102 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CLCN7 CL E G H | 1186 | 2025 | OMIM:611490 | Osteopetrosis, autosomal recessive 4 | . | | | 102 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CNTNAP1 CL E G H | 8506 | 8011 | OMIM:616286 | Lethal congenital contracture syndrome 7 | | | | 9 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CNTNAP1 CL E G H | 8506 | 8011 | OMIM:618186 | Neuropathy, congenital hypomyelinating, 3 | | | | 9 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | COL12A1 CL E G H | 1303 | 2188 | OMIM:616470 | ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2 | | | | 65 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | COL13A1 CL E G H | 1305 | 2190 | OMIM:616720 | Myasthenic syndrome, congenital, 19 | HP:0040283 - Occasional | | | 6 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 6 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 6 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:91411 | Congenital ptosis | | | | 3 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | COL6A1 CL E G H | 1291 | 2211 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 442 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | COL6A2 CL E G H | 1292 | 2212 | OMIM:255600 | Myosclerosis, autosomal recessive | . | | | 478 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | COL6A2 CL E G H | 1292 | 2212 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 478 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | COL6A3 CL E G H | 1293 | 2213 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 702 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | COLQ CL E G H | 8292 | 2226 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 90 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CRLF1 CL E G H | 9244 | 2364 | OMIM:272430 | Crisponi/cold-induced sweating syndrome 1 | . | | | 24 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CRYAB CL E G H | 1410 | 2389 | ORPHA:399058 | Alpha-B crystallin-related late-onset myopathy | | | | 46 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:607641 | Neuronopathy, distal hereditary motor, type VIIB | . | | | 86 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | DES CL E G H | 1674 | 2770 | OMIM:601419 | Myopathy, myofibrillar, 1 | . | | | 263 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | DLL4 CL E G H | 54567 | 2910 | ORPHA:1114 | Aplasia cutis congenita | HP:0040283 - Occasional | | | 9 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | DMPK CL E G H | 1760 | 2933 | OMIM:160900 | Myotonic dystrophy 1 | | | | 152 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | DNA2 CL E G H | 1763 | 2939 | OMIM:615156 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6 | . | | | 41 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | DNAJB6 CL E G H | 10049 | 14888 | OMIM:603511 | Muscular dystrophy, limb-girdle, type 1E | HP:0040283 - Occasional | | | 103 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | DNM2 CL E G H | 1785 | 2974 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 167 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | DOK7 CL E G H | 285489 | 26594 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 91 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 38 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | EYA1 CL E G H | 2138 | 3519 | ORPHA:107 | BOR syndrome | HP:0040283 - Occasional | | | 135 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | EYA1 CL E G H | 2138 | 3519 | ORPHA:52429 | Branchiootic syndrome | HP:0040283 - Occasional | | | 135 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 135 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 157 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | 157 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:606612 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 | . | | | 157 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | 184 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | FRG1 CL E G H | 2483 | 3954 | OMIM:158900 | Facioscapulohumeral muscular dystrophy 1 | . | | | 1 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | GAN CL E G H | 8139 | 4137 | ORPHA:643 | Giant axonal neuropathy | HP:0040282 - Frequent | | | 121 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | GAN CL E G H | 8139 | 4137 | OMIM:256850 | Giant axonal neuropathy 1, autosomal recessive | . | | | 121 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | GFPT1 CL E G H | 2673 | 4241 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 128 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | GFPT1 CL E G H | 2673 | 4241 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | . | | | 128 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | GFPT1 CL E G H | 2673 | 4241 | OMIM:610542 | Myasthenic syndrome, congenital, with tubular aggregates 1 | . | | | 128 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:1522 | Craniometaphyseal dysplasia | HP:0040283 - Occasional | | | 68 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:218400 | Craniometaphyseal dysplasia, autosomal recessive | . | | | 68 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | GJC2 CL E G H | 57165 | 17494 | OMIM:608804 | Leukodystrophy, hypomyelinating, 2 | . | | | 37 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | GLE1 CL E G H | 2733 | 4315 | OMIM:611890 | Congenital arthrogryposis with anterior horn cell disease | | | | 45 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 34 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 34 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | GNE CL E G H | 10020 | 23657 | ORPHA:602 | GNE myopathy | HP:0040283 - Occasional | | | 173 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | HP:0040282 - Frequent | | | 53 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:618547 | NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA | | | | 11 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | HP:0040283 - Occasional | | | 2 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | HOXB1 CL E G H | 3211 | 5111 | OMIM:614744 | Facial paresis, hereditary congenital, 3 | . | | | 2 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:1114 | Aplasia cutis congenita | HP:0040283 - Occasional | | | 124 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | KBTBD13 CL E G H | 390594 | 37227 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 80 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | KIF1B CL E G H | 23095 | 16636 | OMIM:118210 | Charcot-Marie-Tooth disease, axonal, type 2A1 | | | | 202 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | KLHL40 CL E G H | 131377 | 30372 | OMIM:615348 | NEMALINE MYOPATHY 8; NEM8 | | | | 28 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | KLHL40 CL E G H | 131377 | 30372 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040282 - Frequent | | | 28 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 13 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040282 - Frequent | | | 13 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040282 - Frequent | | | 13 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171436 | Typical nemaline myopathy | HP:0040282 - Frequent | | | 13 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | KY CL E G H | 339855 | 26576 | OMIM:617114 | MYOPATHY, MYOFIBRILLAR, 7; MFM7 | | | | 3 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | LAMA2 CL E G H | 3908 | 6482 | ORPHA:258 | Laminin subunit alpha 2-related congenital muscular dystrophy | HP:0040282 - Frequent | | | 411 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | LAMB2 CL E G H | 3913 | 6487 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 92 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 136 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:608840 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 | . | | | 136 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | LMOD3 CL E G H | 56203 | 6649 | OMIM:616165 | Nemaline myopathy 10 | . | | | 11 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040282 - Frequent | | | 11 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171436 | Typical nemaline myopathy | HP:0040282 - Frequent | | | 11 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | LRP12 CL E G H | 29967 | 31708 | OMIM:164310 | Oculopharyngodistal myopathy 1 | . | | | | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | LRP4 CL E G H | 4038 | 6696 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 124 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | LRP4 CL E G H | 4038 | 6696 | ORPHA:3152 | Sclerosteosis | HP:0040282 - Frequent | | | 124 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | LRP4 CL E G H | 4038 | 6696 | OMIM:614305 | Sclerosteosis 2 | . | | | 124 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:2790 | Endosteal hyperostosis, Worth type | HP:0040283 - Occasional | | | 125 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:3416 | Hyperostosis corticalis generalisata | HP:0040282 - Frequent | | | 125 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:178377 | Osteosclerosis-developmental delay-craniosynostosis syndrome | HP:0040283 - Occasional | | | 125 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | MEGF10 CL E G H | 84466 | 29634 | OMIM:614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | . | | | 158 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | MGME1 CL E G H | 92667 | 16205 | OMIM:615084 | Mitochondrial DNA depletion syndrome 11 | . | | | 11 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:618184 | Neuropathy, congenital hypomyelinating, 2 | | | | 134 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | MTM1 CL E G H | 4534 | 7448 | OMIM:310400 | Myopathy, centronuclear, X-linked | . | | | 185 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | MTMR14 CL E G H | 64419 | 26190 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 7 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | MTMR2 CL E G H | 8898 | 7450 | OMIM:601382 | Charcot-Marie-Tooth disease, type 4B1 | . | | | 88 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | MTRFR CL E G H | 91574 | 26784 | ORPHA:254930 | Combined oxidative phosphorylation defect type 7 | | | | | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | MTRFR CL E G H | 91574 | 26784 | OMIM:613559 | Combined oxidative phosphorylation deficiency 7 | | | | | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | MUSK CL E G H | 4593 | 7525 | OMIM:616325 | Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency | . | | | 72 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | MUSK CL E G H | 4593 | 7525 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 72 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:437572 | MYH7-related late-onset scapuloperoneal muscular dystrophy | HP:0040283 - Occasional | | | 1269 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 1269 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:160500 | Myopathy, distal, 1 | . | | | 1269 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | MYL2 CL E G H | 4633 | 7583 | OMIM:619424 | MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12 | | | | 131 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | MYMK CL E G H | 389827 | 33778 | OMIM:254940 | Carey-Fineman-Ziter syndrome | . | | | 5 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | MYMK CL E G H | 389827 | 33778 | ORPHA:1358 | Carey-Fineman-Ziter syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | MYMX CL E G H | 101929726 | 52391 | ORPHA:1358 | Carey-Fineman-Ziter syndrome | HP:0040281 - Very frequent | | | | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 217 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 217 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | MYPN CL E G H | 84665 | 23246 | OMIM:617336 | Nemaline myopathy 11, autosomal recessive | . | | | 217 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | NARS2 CL E G H | 79731 | 26274 | OMIM:616239 | Combined oxidative phosphorylation deficiency 24 | . | | | 34 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 745 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040282 - Frequent | | | 745 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040282 - Frequent | | | 745 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171436 | Typical nemaline myopathy | HP:0040282 - Frequent | | | 745 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | NEFL CL E G H | 4747 | 7739 | OMIM:607684 | Charcot-Marie-Tooth disease, axonal, type 2E | HP:0040283 - Occasional | | | 118 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 220 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:637 | Neurofibromatosis type 2 | HP:0040283 - Occasional | | | 220 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | NOD2 CL E G H | 64127 | 5331 | ORPHA:90340 | Blau syndrome | HP:0040283 - Occasional | | | 187 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | OSTM1 CL E G H | 28962 | 21652 | OMIM:259720 | Osteopetrosis, autosomal recessive 5 | | | | 73 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | PABPN1 CL E G H | 8106 | 8565 | OMIM:164300 | Oculopharyngeal muscular dystrophy | . | | | 10 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 9 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:772 | Infantile Refsum disease | HP:0040283 - Occasional | | | 169 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:772 | Infantile Refsum disease | HP:0040283 - Occasional | | | 75 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:772 | Infantile Refsum disease | HP:0040283 - Occasional | | | 4 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:772 | Infantile Refsum disease | HP:0040283 - Occasional | | | 65 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:772 | Infantile Refsum disease | HP:0040283 - Occasional | | | 66 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:772 | Infantile Refsum disease | HP:0040283 - Occasional | | | 46 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:772 | Infantile Refsum disease | HP:0040283 - Occasional | | | 59 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:772 | Infantile Refsum disease | HP:0040283 - Occasional | | | 62 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:772 | Infantile Refsum disease | HP:0040283 - Occasional | | | 82 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:772 | Infantile Refsum disease | HP:0040283 - Occasional | | | 106 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:772 | Infantile Refsum disease | HP:0040283 - Occasional | | | 47 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:772 | Infantile Refsum disease | HP:0040283 - Occasional | | | 99 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:772 | Infantile Refsum disease | HP:0040283 - Occasional | | | 98 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | PI4KA CL E G H | 5297 | 8983 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 11 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 162 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:1114 | Aplasia cutis congenita | HP:0040283 - Occasional | | | 759 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:254361 | Plectin-related limb-girdle muscular dystrophy R17 | | | | 759 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:570 | Moebius syndrome | HP:0040281 - Very frequent | | | | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 464 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 464 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | . | | | 464 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | . | | | 464 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 45 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:610131 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | . | | | 45 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 213 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | 213 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:613155 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 | . | | | 213 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 221 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613156 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | . | | | 221 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | PTDSS1 CL E G H | 9791 | 9587 | ORPHA:2658 | Lenz-Majewski hyperostotic dwarfism | HP:0040282 - Frequent | | | 6 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | PTRH2 CL E G H | 51651 | 24265 | ORPHA:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | HP:0040282 - Frequent | | | 6 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | RAPSN CL E G H | 5913 | 9863 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 73 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | REV3L CL E G H | 5980 | 9968 | ORPHA:570 | Moebius syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 125 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040282 - Frequent | | | 1200 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:98905 | Congenital multicore myopathy with external ophthalmoplegia | HP:0040282 - Frequent | | | 1200 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:255320 | Minicore myopathy with external ophthalmoplegia | . | | | 1200 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:178145 | Moderate multiminicore disease with hand involvement | HP:0040282 - Frequent | | | 1200 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 1200 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SALL4 CL E G H | 57167 | 15924 | OMIM:607323 | Duane-Radial ray syndrome | . | | | 86 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 263 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SCO2 CL E G H | 9997 | 10604 | ORPHA:521411 | Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect | | | | 40 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SELENON CL E G H | 57190 | 15999 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 144 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SELENON CL E G H | 57190 | 15999 | OMIM:602771 | Rigid spine muscular dystrophy 1 | . | | | 144 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SGCD CL E G H | 6444 | 10807 | ORPHA:219 | Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 | HP:0040282 - Frequent | | | 223 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SH3TC2 CL E G H | 79628 | 29427 | OMIM:601596 | Charcot-Marie-Tooth disease, type 4C | . | | | 493 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SHMT2 CL E G H | 6472 | 10852 | OMIM:619121 | NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB | | | | | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SIX1 CL E G H | 6495 | 10887 | ORPHA:107 | BOR syndrome | HP:0040283 - Occasional | | | 50 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SIX1 CL E G H | 6495 | 10887 | ORPHA:52429 | Branchiootic syndrome | HP:0040283 - Occasional | | | 50 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SIX1 CL E G H | 6495 | 10887 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 50 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SIX5 CL E G H | 147912 | 10891 | ORPHA:107 | BOR syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:218000 | Agenesis of the corpus callosum with peripheral neuropathy | | | | 163 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SLC18A3 CL E G H | 6572 | 10936 | OMIM:617239 | Myasthenic syndrome, congenital, 21, presynaptic | . | | | 2 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SLC19A3 CL E G H | 80704 | 16266 | OMIM:607483 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | | | | 110 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 28 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 68 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:609283 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | . | | | 68 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:144755 | Hyperostosis cranialis interna | . | | | 5 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SLC52A2 CL E G H | 79581 | 30224 | OMIM:614707 | Brown-Vialetto-Van laere syndrome 2 | . | | | 47 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SLC52A3 CL E G H | 113278 | 16187 | OMIM:211530 | Brown-Vialetto-Van laere syndrome 1 | . | | | 51 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SLC52A3 CL E G H | 113278 | 16187 | OMIM:211500 | Bulbar palsy, progressive, of childhood | | | | 51 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SLC5A7 CL E G H | 60482 | 14025 | OMIM:617143 | Myasthenic syndrome, congenital, 20, presynaptic | . | | | 9 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 9 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 87 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 47 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SMCHD1 CL E G H | 23347 | 29090 | OMIM:158901 | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2 | | | | 174 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 22 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SNX10 CL E G H | 29887 | 14974 | OMIM:615085 | Osteopetrosis, autosomal recessive 8 | . | | | 2 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SOST CL E G H | 50964 | 13771 | OMIM:122860 | Craniodiaphyseal dysplasia, autosomal dominant | | | | 26 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SOST CL E G H | 50964 | 13771 | ORPHA:3416 | Hyperostosis corticalis generalisata | HP:0040282 - Frequent | | | 26 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SOST CL E G H | 50964 | 13771 | ORPHA:3152 | Sclerosteosis | HP:0040282 - Frequent | | | 26 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SOST CL E G H | 50964 | 13771 | OMIM:269500 | Sclerosteosis 1 | . | | | 26 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SPEG CL E G H | 10290 | 16901 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040282 - Frequent | | | 20 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SPEG CL E G H | 10290 | 16901 | OMIM:615959 | Myopathy, centronuclear, 5 | . | | | 20 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SPTBN4 CL E G H | 57731 | 14896 | OMIM:617519 | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | . | | | 3 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:617158 | MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV | | | | 62 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 50 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SUCLA2 CL E G H | 8803 | 11448 | OMIM:612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | | | | 66 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 124 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SUPT16H CL E G H | 11198 | 11465 | OMIM:619480 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC | | | | | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:319332 | Autosomal recessive myogenic arthrogryposis multiplex congenita | | | | 1129 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 4 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | TCIRG1 CL E G H | 10312 | 11647 | OMIM:259700 | Osteopetrosis, autosomal recessive 1 | . | | | 82 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 238 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | | | | 12 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:1328 | Camurati-Engelmann disease | HP:0040283 - Occasional | | | 13 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 103 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | TK2 CL E G H | 7084 | 11831 | OMIM:609560 | Mitochondrial DNA depletion syndrome 2 (myopathic type) | | | | 103 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | TK2 CL E G H | 7084 | 11831 | OMIM:617069 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | . | | | 103 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:128100 | Dystonia 1, torsion, autosomal dominant | | | | 47 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 54 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 54 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:609285 | Nemaline myopathy 4 | | | | 54 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171436 | Typical nemaline myopathy | HP:0040282 - Frequent | | | 54 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 108 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040282 - Frequent | | | 108 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | TPM3 CL E G H | 7170 | 12012 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 108 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | TPM3 CL E G H | 7170 | 12012 | OMIM:609284 | Nemaline myopathy 1 | | | | 108 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | TRIM32 CL E G H | 22954 | 16380 | OMIM:254110 | Muscular dystrophy, limb-girdle, type 2H | . | | | 108 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:181405 | Scapuloperoneal spinal muscular atrophy | . | | | 214 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040282 - Frequent | | | 7128 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | TTN CL E G H | 7273 | 12403 | OMIM:611705 | Salih myopathy | . | | | 7128 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | TUBB3 CL E G H | 10381 | 20772 | OMIM:600638 | Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement | HP:0040283 - Occasional | | | 64 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | TUBB6 CL E G H | 84617 | 20776 | OMIM:617732 | Facial palsy, congenital, with ptosis and velopharyngeal dysfunction | . | | | | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 113 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | UBA1 CL E G H | 7317 | 12469 | OMIM:301830 | Spinal muscular atrophy, X-linked 2 | . | | | 35 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | UBA2 CL E G H | 10054 | 30661 | ORPHA:1114 | Aplasia cutis congenita | HP:0040283 - Occasional | | | | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:329478 | Adult-onset distal myopathy due to VCP mutation | | | | 63 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | VCP CL E G H | 7415 | 12666 | OMIM:167320 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 | HP:0040283 - Occasional | | | 63 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | XRCC2 CL E G H | 7516 | 12829 | OMIM:617247 | FANCONI ANEMIA, COMPLEMENTATION GROUP U | | | | 125 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | YME1L1 CL E G H | 10730 | 12843 | OMIM:617302 | Optic atrophy 11 | | | | 2 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:314580 | Wieacker-Wolff syndrome | . | | | 19 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ZFHX4 CL E G H | 79776 | 30939 | ORPHA:91411 | Congenital ptosis | | | | | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | ABCA1 CL E G H | 19 | 29 | OMIM:205400 | Tangier disease | . | | | 191 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | ABCA1 CL E G H | 19 | 29 | ORPHA:31150 | Tangier disease | HP:0040283 - Occasional | | | 191 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | ADCY6 CL E G H | 112 | 237 | OMIM:616287 | Lethal congenital contracture syndrome 8 | . | | | 2 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | ADGRG1 CL E G H | 9289 | 4512 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040283 - Occasional | | | 88 | | |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 127 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | BIN1 CL E G H | 274 | 1052 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040283 - Occasional | | | 99 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | CFL2 CL E G H | 1073 | 1875 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 35 | | |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 65 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | CNTNAP1 CL E G H | 8506 | 8011 | OMIM:616286 | Lethal congenital contracture syndrome 7 | . | | | 9 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | CNTNAP1 CL E G H | 8506 | 8011 | OMIM:618186 | Neuropathy, congenital hypomyelinating, 3 | . | | | 9 | | |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 6 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:91411 | Congenital ptosis | | | | 3 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | CRPPA CL E G H | 729920 | 37276 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | CRYAB CL E G H | 1410 | 2389 | ORPHA:399058 | Alpha-B crystallin-related late-onset myopathy | HP:0040283 - Occasional | | | 46 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | DMPK CL E G H | 1760 | 2933 | OMIM:160900 | Myotonic dystrophy 1 | . | | | 152 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 157 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | FKTN CL E G H | 2218 | 3622 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 184 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | GLE1 CL E G H | 2733 | 4315 | OMIM:611890 | Congenital arthrogryposis with anterior horn cell disease | . | | | 45 | | |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | HK1 CL E G H | 3098 | 4922 | OMIM:618547 | NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA | | | | 11 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | KBTBD13 CL E G H | 390594 | 37227 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 80 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | KLHL40 CL E G H | 131377 | 30372 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040283 - Occasional | | | 28 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | MPZ CL E G H | 4359 | 7225 | OMIM:618184 | Neuropathy, congenital hypomyelinating, 2 | . | | | 134 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | MTRFR CL E G H | 91574 | 26784 | ORPHA:254930 | Combined oxidative phosphorylation defect type 7 | HP:0040283 - Occasional | | | | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | MTRFR CL E G H | 91574 | 26784 | OMIM:613559 | Combined oxidative phosphorylation deficiency 7 | . | | | | | |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | MYPN CL E G H | 84665 | 23246 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 217 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | PI4KA CL E G H | 5297 | 8983 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040283 - Occasional | | | 11 | | |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | PLEC CL E G H | 5339 | 9069 | ORPHA:254361 | Plectin-related limb-girdle muscular dystrophy R17 | HP:0040283 - Occasional | | | 759 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 464 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 45 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 213 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 125 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040283 - Occasional | | | 1200 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:98905 | Congenital multicore myopathy with external ophthalmoplegia | HP:0040283 - Occasional | | | 1200 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | 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:0010628 | HP:0001349 | Facial diplegia | 1 | SHMT2 CL E G H | 6472 | 10852 | OMIM:619121 | NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB | | | | | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:218000 | Agenesis of the corpus callosum with peripheral neuropathy | . | | | 163 | | |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 2 | | |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 28 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 68 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | SLC52A3 CL E G H | 113278 | 16187 | OMIM:211500 | Bulbar palsy, progressive, of childhood | . | | | 51 | | |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 9 | | |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 2 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | SOST CL E G H | 50964 | 13771 | OMIM:122860 | Craniodiaphyseal dysplasia, autosomal dominant | . | | | 26 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | SPEG CL E G H | 10290 | 16901 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040283 - Occasional | | | 20 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040283 - Occasional | | | 50 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | SUCLA2 CL E G H | 8803 | 11448 | OMIM:612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | . | | | 66 | | |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | SUPT16H CL E G H | 11198 | 11465 | OMIM:619480 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC | | | | | | |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:319332 | Autosomal recessive myogenic arthrogryposis multiplex congenita | | | | 1129 | | |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 4 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | TK2 CL E G H | 7084 | 11831 | OMIM:609560 | Mitochondrial DNA depletion syndrome 2 (myopathic type) | . | | | 103 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | TPM2 CL E G H | 7169 | 12011 | OMIM:609285 | Nemaline myopathy 4 | . | | | 54 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | TPM3 CL E G H | 7170 | 12012 | OMIM:609284 | Nemaline myopathy 1 | . | | | 108 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | TTN CL E G H | 7273 | 12403 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040283 - Occasional | | | 7128 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 113 | | |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 2 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:329478 | Adult-onset distal myopathy due to VCP mutation | HP:0040283 - Occasional | | | 63 | | |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | XRCC2 CL E G H | 7516 | 12829 | OMIM:617247 | FANCONI ANEMIA, COMPLEMENTATION GROUP U | | | | 125 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | YME1L1 CL E G H | 10730 | 12843 | OMIM:617302 | Optic atrophy 11 | . | | | 2 | | |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | ZFHX4 CL E G H | 79776 | 30939 | ORPHA:91411 | Congenital ptosis | | | | | | |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:91411 | Congenital ptosis | | | | 3 | | |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | ZFHX4 CL E G H | 79776 | 30939 | ORPHA:91411 | Congenital ptosis | | | | | | |