Human Phenotype Ontology 
Grandparent Node:
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Abnormality of facial soft tissue (HP:0011799)help
Grandparent Node:
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Abnormality of the musculature (HP:0003011)help
Parent Node:
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Abnormality of facial musculature (HP:0000301)help
..Starting node
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Weakness of facial musculature (HP:0030319)help
Term ID: 30319
Name: Weakness of facial musculature
Synonym: Decreased facial muscle strength; Decreased strength of facial muscles; Face weakness; Facial muscle weakness; Facial weakness; Myasthenia of facial muscles; Reduced facial muscle strength; Weakness of face; Weakness of facial musculature
Definition: Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
Comments:
Reference: HP:0030319
Genes and Diseases:
 
       Child Nodes:
........expandFacial paralysis (HP:0007209) help
........expandFacial palsy (HP:0010628) help
................... HP:0001349 Facial diplegia
................... HP:0004661 Frontalis muscle weakness
................... HP:0012799 Unilateral facial palsy
................... HP:0430025 Bilateral facial palsy
........expandWeakness of orbicularis oculi muscle (HP:0012507) help

 Sister Nodes: 
..expandAbnormal platysma muscle morphology (HP:3000013) help
..expandAbnormality of jaw muscles (HP:0045037) help
..expandAbnormality of muscle of facial expression (HP:0430019) help
..expandAbnormality of mylohyoid muscle (HP:3000008) help
..expandAbnormality of nasal musculature (HP:0430018) help
..expandFacial hypotonia (HP:0000297) help
..expandFacial muscle hypertrophy (HP:0012892) help
..expandFacial myokymia (HP:0000317) help
..expandHypomimic face (HP:0000338) help
..expandHypoplasia of facial musculature (HP:0004660) help
..expandSpasticity of facial muscles (HP:0002491) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030319HP:0030319Weakness of facial musculature0ABCA1 CL E G H1929ORPHA:31150Tangier disease191
HP:0030319HP:0030319Weakness of facial musculature0ABCA1 CL E G H1929OMIM:205400Tangier disease191
HP:0030319HP:0030319Weakness of facial musculature0ACADS CL E G H3590OMIM:201470Acyl-Coa dehydrogenase, short-chain, deficiency of90
HP:0030319HP:0030319Weakness of facial musculature0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathy96
HP:0030319HP:0030319Weakness of facial musculature0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent96
HP:0030319HP:0030319Weakness of facial musculature0ACTA1 CL E G H58129ORPHA:171433Intermediate nemaline myopathy96
HP:0030319HP:0030319Weakness of facial musculature0ACTA1 CL E G H58129OMIM:255310Myopathy, congenital, with fiber-type disproportion96
HP:0030319HP:0030319Weakness of facial musculature0ACTA1 CL E G H58129OMIM:616852Myopathy, scapulohumeroperoneal96
HP:0030319HP:0030319Weakness of facial musculature0ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 396
HP:0030319HP:0030319Weakness of facial musculature0ACTA1 CL E G H58129ORPHA:171430Severe congenital nemaline myopathy96
HP:0030319HP:0030319Weakness of facial musculature0ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathy96
HP:0030319HP:0030319Weakness of facial musculature0ACTA1 CL E G H58129ORPHA:97240Zebra body myopathy96
HP:0030319HP:0030319Weakness of facial musculature0ACTN2 CL E G H88164OMIM:618654MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ307
HP:0030319HP:0030319Weakness of facial musculature0ADA2 CL E G H518161839OMIM:182410Sneddon syndrome22
HP:0030319HP:0030319Weakness of facial musculature0ADCY6 CL E G H112237OMIM:616287Lethal congenital contracture syndrome 82
HP:0030319HP:0030319Weakness of facial musculature0ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040282 - Frequent88
HP:0030319HP:0030319Weakness of facial musculature0ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathyHP:0040282 - Frequent
HP:0030319HP:0030319Weakness of facial musculature0ADSS1 CL E G H12262220093OMIM:617030Myopathy, distal, 5
HP:0030319HP:0030319Weakness of facial musculature0AGRN CL E G H375790329OMIM:615120Myasthenic syndrome, congenital, 8127
HP:0030319HP:0030319Weakness of facial musculature0AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromes127
HP:0030319HP:0030319Weakness of facial musculature0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromes127
HP:0030319HP:0030319Weakness of facial musculature0AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromes1
HP:0030319HP:0030319Weakness of facial musculature0AKT1 CL E G H207391ORPHA:2495Meningioma54
HP:0030319HP:0030319Weakness of facial musculature0ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defect12
HP:0030319HP:0030319Weakness of facial musculature0ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defect46
HP:0030319HP:0030319Weakness of facial musculature0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis34
HP:0030319HP:0030319Weakness of facial musculature0AMER1 CL E G H13928526837ORPHA:2780Osteopathia striata-cranial sclerosis syndrome34
HP:0030319HP:0030319Weakness of facial musculature0ANKH CL E G H5617215492ORPHA:1522Craniometaphyseal dysplasia164
HP:0030319HP:0030319Weakness of facial musculature0ANKH CL E G H5617215492OMIM:123000Craniometaphyseal dysplasia, autosomal dominant164
HP:0030319HP:0030319Weakness of facial musculature0ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12304
HP:0030319HP:0030319Weakness of facial musculature0ANO5 CL E G H20385927337OMIM:611307Muscular dystrophy, limb-girdle, type 2L304
HP:0030319HP:0030319Weakness of facial musculature0ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0030319HP:0030319Weakness of facial musculature0ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy78
HP:0030319HP:0030319Weakness of facial musculature0ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraine239
HP:0030319HP:0030319Weakness of facial musculature0BAG3 CL E G H9531939OMIM:612954Myopathy, myofibrillar, 6204
HP:0030319HP:0030319Weakness of facial musculature0BAP1 CL E G H8314950ORPHA:2495Meningioma184
HP:0030319HP:0030319Weakness of facial musculature0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0030319HP:0030319Weakness of facial musculature0BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathy99
HP:0030319HP:0030319Weakness of facial musculature0BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 299
HP:0030319HP:0030319Weakness of facial musculature0BMS1 CL E G H979023505ORPHA:1114Aplasia cutis congenita1
HP:0030319HP:0030319Weakness of facial musculature0BTNL2 CL E G H562441142ORPHA:797Sarcoidosis1
HP:0030319HP:0030319Weakness of facial musculature0BTNL2 CL E G H562441142OMIM:612387Sarcoidosis, susceptibility to, 21
HP:0030319HP:0030319Weakness of facial musculature0CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraine449
HP:0030319HP:0030319Weakness of facial musculature0CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0030319HP:0030319Weakness of facial musculature0CAPN3 CL E G H8251480OMIM:253600Muscular dystrophy, limb-girdle, type 2A323
HP:0030319HP:0030319Weakness of facial musculature0CFL2 CL E G H10731875OMIM:610687Nemaline myopathy 735
HP:0030319HP:0030319Weakness of facial musculature0CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathy35
HP:0030319HP:0030319Weakness of facial musculature0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromes65
HP:0030319HP:0030319Weakness of facial musculature0CHCHD10 CL E G H40091615559ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intoleranceHP:0040282 - Frequent11
HP:0030319HP:0030319Weakness of facial musculature0CHCHD10 CL E G H40091615559OMIM:616209Myopathy, isolated mitochondrial, autosomal dominant11
HP:0030319HP:0030319Weakness of facial musculature0CHD7 CL E G H5563620626ORPHA:138CHARGE syndrome515
HP:0030319HP:0030319Weakness of facial musculature0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0030319HP:0030319Weakness of facial musculature0CHKB CL E G H11201938OMIM:602541Muscular dystrophy, congenital, Megaconial type53
HP:0030319HP:0030319Weakness of facial musculature0CHRNA1 CL E G H11341955OMIM:608930Myasthenic syndrome, congenital, 1B, fast-channel74
HP:0030319HP:0030319Weakness of facial musculature0CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromes74
HP:0030319HP:0030319Weakness of facial musculature0CHRNB1 CL E G H11401961OMIM:616313Myasthenic syndrome, congenital, 2A, slow-channel53
HP:0030319HP:0030319Weakness of facial musculature0CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromes53
HP:0030319HP:0030319Weakness of facial musculature0CHRND CL E G H11441965OMIM:616322Myasthenic syndrome, congenital, 3B, fast-channel88
HP:0030319HP:0030319Weakness of facial musculature0CHRND CL E G H11441965OMIM:616323Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency88
HP:0030319HP:0030319Weakness of facial musculature0CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromes88
HP:0030319HP:0030319Weakness of facial musculature0CHRNE CL E G H11451966OMIM:616324Myasthenic syndrome, congenital, 4B, fast-channel139
HP:0030319HP:0030319Weakness of facial musculature0CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency139
HP:0030319HP:0030319Weakness of facial musculature0CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromes139
HP:0030319HP:0030319Weakness of facial musculature0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0030319HP:0030319Weakness of facial musculature0CLCF1 CL E G H2352917412OMIM:610313Cold-Induced sweating syndrome 26
HP:0030319HP:0030319Weakness of facial musculature0CLCN7 CL E G H11862025ORPHA:53Albers-Schönberg osteopetrosis102
HP:0030319HP:0030319Weakness of facial musculature0CLCN7 CL E G H11862025OMIM:166600Osteopetrosis, autosomal dominant 2102
HP:0030319HP:0030319Weakness of facial musculature0CLCN7 CL E G H11862025OMIM:611490Osteopetrosis, autosomal recessive 4102
HP:0030319HP:0030319Weakness of facial musculature0CNBP CL E G H755513164OMIM:602668Dystrophia myotonica 21
HP:0030319HP:0030319Weakness of facial musculature0CNTNAP1 CL E G H85068011OMIM:616286Lethal congenital contracture syndrome 79
HP:0030319HP:0030319Weakness of facial musculature0CNTNAP1 CL E G H85068011OMIM:618186Neuropathy, congenital hypomyelinating, 39
HP:0030319HP:0030319Weakness of facial musculature0COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndromeHP:0040283 - Occasional65
HP:0030319HP:0030319Weakness of facial musculature0COL12A1 CL E G H13032188OMIM:616470ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD265
HP:0030319HP:0030319Weakness of facial musculature0COL13A1 CL E G H13052190OMIM:616720Myasthenic syndrome, congenital, 196
HP:0030319HP:0030319Weakness of facial musculature0COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromes6
HP:0030319HP:0030319Weakness of facial musculature0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromes6
HP:0030319HP:0030319Weakness of facial musculature0COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0030319HP:0030319Weakness of facial musculature0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies193
HP:0030319HP:0030319Weakness of facial musculature0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1442
HP:0030319HP:0030319Weakness of facial musculature0COL6A2 CL E G H12922212OMIM:255600Myosclerosis, autosomal recessive478
HP:0030319HP:0030319Weakness of facial musculature0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1478
HP:0030319HP:0030319Weakness of facial musculature0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1702
HP:0030319HP:0030319Weakness of facial musculature0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromes90
HP:0030319HP:0030319Weakness of facial musculature0COX6A2 CL E G H13392279OMIM:619062MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0030319HP:0030319Weakness of facial musculature0CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 124
HP:0030319HP:0030319Weakness of facial musculature0CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disability
HP:0030319HP:0030319Weakness of facial musculature0CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathy46
HP:0030319HP:0030319Weakness of facial musculature0DBH CL E G H16212689OMIM:223360Dopamine beta-hydroxylase deficiency, congenital80
HP:0030319HP:0030319Weakness of facial musculature0DCTN1 CL E G H16392711OMIM:607641Neuronopathy, distal hereditary motor, type VIIB86
HP:0030319HP:0030319Weakness of facial musculature0DES CL E G H16742770ORPHA:98909DesminopathyHP:0040283 - Occasional263
HP:0030319HP:0030319Weakness of facial musculature0DES CL E G H16742770OMIM:601419Myopathy, myofibrillar, 1263
HP:0030319HP:0030319Weakness of facial musculature0DLL4 CL E G H545672910ORPHA:1114Aplasia cutis congenita9
HP:0030319HP:0030319Weakness of facial musculature0DMPK CL E G H17602933OMIM:160900Myotonic dystrophy 1152
HP:0030319HP:0030319Weakness of facial musculature0DNA2 CL E G H17632939OMIM:615156Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 641
HP:0030319HP:0030319Weakness of facial musculature0DNAJB6 CL E G H1004914888OMIM:603511Muscular dystrophy, limb-girdle, type 1E103
HP:0030319HP:0030319Weakness of facial musculature0DNM1L CL E G H100592973ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040284 - Very rare94
HP:0030319HP:0030319Weakness of facial musculature0DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0030319HP:0030319Weakness of facial musculature0DNMT3B CL E G H17892979OMIM:619478FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC; FSHD479
HP:0030319HP:0030319Weakness of facial musculature0DOK7 CL E G H28548926594OMIM:254300Myasthenia, limb-girdle, familial91
HP:0030319HP:0030319Weakness of facial musculature0DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromes91
HP:0030319HP:0030319Weakness of facial musculature0DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defect38
HP:0030319HP:0030319Weakness of facial musculature0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0030319HP:0030319Weakness of facial musculature0EYA1 CL E G H21383519ORPHA:107BOR syndrome135
HP:0030319HP:0030319Weakness of facial musculature0EYA1 CL E G H21383519ORPHA:52429Branchiootic syndrome135
HP:0030319HP:0030319Weakness of facial musculature0EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1135
HP:0030319HP:0030319Weakness of facial musculature0FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disability157
HP:0030319HP:0030319Weakness of facial musculature0FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disability157
HP:0030319HP:0030319Weakness of facial musculature0FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5157
HP:0030319HP:0030319Weakness of facial musculature0FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disability184
HP:0030319HP:0030319Weakness of facial musculature0FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvementHP:0040283 - Occasional197
HP:0030319HP:0030319Weakness of facial musculature0FRG1 CL E G H24833954OMIM:158900Facioscapulohumeral muscular dystrophy 11
HP:0030319HP:0030319Weakness of facial musculature0GAN CL E G H81394137ORPHA:643Giant axonal neuropathy121
HP:0030319HP:0030319Weakness of facial musculature0GAN CL E G H81394137OMIM:256850Giant axonal neuropathy 1, autosomal recessive121
HP:0030319HP:0030319Weakness of facial musculature0GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0030319HP:0030319Weakness of facial musculature0GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defect128
HP:0030319HP:0030319Weakness of facial musculature0GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency128
HP:0030319HP:0030319Weakness of facial musculature0GFPT1 CL E G H26734241OMIM:610542Myasthenic syndrome, congenital, with tubular aggregates 1128
HP:0030319HP:0030319Weakness of facial musculature0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040281 - Very frequent
HP:0030319HP:0030319Weakness of facial musculature0GIPC1 CL E G H107551226OMIM:618940OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0030319HP:0030319Weakness of facial musculature0GJA1 CL E G H26974274ORPHA:1522Craniometaphyseal dysplasia68
HP:0030319HP:0030319Weakness of facial musculature0GJA1 CL E G H26974274OMIM:218400Craniometaphyseal dysplasia, autosomal recessive68
HP:0030319HP:0030319Weakness of facial musculature0GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 237
HP:0030319HP:0030319Weakness of facial musculature0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease45
HP:0030319HP:0030319Weakness of facial musculature0GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disability34
HP:0030319HP:0030319Weakness of facial musculature0GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defect34
HP:0030319HP:0030319Weakness of facial musculature0GNE CL E G H1002023657ORPHA:602GNE myopathy173
HP:0030319HP:0030319Weakness of facial musculature0GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0030319HP:0030319Weakness of facial musculature0HACD1 CL E G H92009639OMIM:6199672
HP:0030319HP:0030319Weakness of facial musculature0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent2
HP:0030319HP:0030319Weakness of facial musculature0HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0030319HP:0030319Weakness of facial musculature0HLA-DRB1 CL E G H31234948ORPHA:797Sarcoidosis2
HP:0030319HP:0030319Weakness of facial musculature0HOXB1 CL E G H32115111OMIM:614744Facial paresis, hereditary congenital, 32
HP:0030319HP:0030319Weakness of facial musculature0IRF2BPL CL E G H6420714282OMIM:618088Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures.
HP:0030319HP:0030319Weakness of facial musculature0ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent127
HP:0030319HP:0030319Weakness of facial musculature0ITGB4 CL E G H36916158ORPHA:1114Aplasia cutis congenita124
HP:0030319HP:0030319Weakness of facial musculature0JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0030319HP:0030319Weakness of facial musculature0KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathy80
HP:0030319HP:0030319Weakness of facial musculature0KIF1B CL E G H2309516636OMIM:118210Charcot-Marie-Tooth disease, axonal, type 2A1202
HP:0030319HP:0030319Weakness of facial musculature0KLHL40 CL E G H13137730372OMIM:615348NEMALINE MYOPATHY 8; NEM828
HP:0030319HP:0030319Weakness of facial musculature0KLHL40 CL E G H13137730372ORPHA:171430Severe congenital nemaline myopathy28
HP:0030319HP:0030319Weakness of facial musculature0KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathy13
HP:0030319HP:0030319Weakness of facial musculature0KLHL41 CL E G H1032416905ORPHA:171433Intermediate nemaline myopathy13
HP:0030319HP:0030319Weakness of facial musculature0KLHL41 CL E G H1032416905ORPHA:171430Severe congenital nemaline myopathy13
HP:0030319HP:0030319Weakness of facial musculature0KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathy13
HP:0030319HP:0030319Weakness of facial musculature0KY CL E G H33985526576OMIM:617114MYOPATHY, MYOFIBRILLAR, 7; MFM73
HP:0030319HP:0030319Weakness of facial musculature0LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophy411
HP:0030319HP:0030319Weakness of facial musculature0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromes92
HP:0030319HP:0030319Weakness of facial musculature0LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disability136
HP:0030319HP:0030319Weakness of facial musculature0LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6136
HP:0030319HP:0030319Weakness of facial musculature0LMOD3 CL E G H562036649OMIM:616165Nemaline myopathy 1011
HP:0030319HP:0030319Weakness of facial musculature0LMOD3 CL E G H562036649ORPHA:171430Severe congenital nemaline myopathy11
HP:0030319HP:0030319Weakness of facial musculature0LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathy11
HP:0030319HP:0030319Weakness of facial musculature0LRIF1 CL E G H5579130299OMIM:619477FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0030319HP:0030319Weakness of facial musculature0LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1
HP:0030319HP:0030319Weakness of facial musculature0LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromes124
HP:0030319HP:0030319Weakness of facial musculature0LRP4 CL E G H40386696ORPHA:3152Sclerosteosis124
HP:0030319HP:0030319Weakness of facial musculature0LRP4 CL E G H40386696OMIM:614305Sclerosteosis 2124
HP:0030319HP:0030319Weakness of facial musculature0LRP5 CL E G H40416697ORPHA:2790Endosteal hyperostosis, Worth type125
HP:0030319HP:0030319Weakness of facial musculature0LRP5 CL E G H40416697ORPHA:3416Hyperostosis corticalis generalisata125
HP:0030319HP:0030319Weakness of facial musculature0LRP5 CL E G H40416697ORPHA:178377Osteosclerosis-developmental delay-craniosynostosis syndrome125
HP:0030319HP:0030319Weakness of facial musculature0MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent2
HP:0030319HP:0030319Weakness of facial musculature0MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset158
HP:0030319HP:0030319Weakness of facial musculature0MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 1111
HP:0030319HP:0030319Weakness of facial musculature0MGME1 CL E G H9266716205ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndromeHP:0040282 - Frequent11
HP:0030319HP:0030319Weakness of facial musculature0MPZ CL E G H43597225OMIM:618184Neuropathy, congenital hypomyelinating, 2134
HP:0030319HP:0030319Weakness of facial musculature0MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndromeHP:0040282 - Frequent
HP:0030319HP:0030319Weakness of facial musculature0MTM1 CL E G H45347448OMIM:310400Myopathy, centronuclear, X-linked185
HP:0030319HP:0030319Weakness of facial musculature0MTM1 CL E G H45347448ORPHA:596X-linked centronuclear myopathy185
HP:0030319HP:0030319Weakness of facial musculature0MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0030319HP:0030319Weakness of facial musculature0MTMR2 CL E G H88987450OMIM:601382Charcot-Marie-Tooth disease, type 4B188
HP:0030319HP:0030319Weakness of facial musculature0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7
HP:0030319HP:0030319Weakness of facial musculature0MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7
HP:0030319HP:0030319Weakness of facial musculature0MUSK CL E G H45937525OMIM:616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency72
HP:0030319HP:0030319Weakness of facial musculature0MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromes72
HP:0030319HP:0030319Weakness of facial musculature0MYH7 CL E G H46257577ORPHA:324604Classic multiminicore myopathyHP:0040282 - Frequent1269
HP:0030319HP:0030319Weakness of facial musculature0MYH7 CL E G H46257577ORPHA:59135Laing early-onset distal myopathy1269
HP:0030319HP:0030319Weakness of facial musculature0MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophy1269
HP:0030319HP:0030319Weakness of facial musculature0MYH7 CL E G H46257577OMIM:255310Myopathy, congenital, with fiber-type disproportion1269
HP:0030319HP:0030319Weakness of facial musculature0MYH7 CL E G H46257577OMIM:160500Myopathy, distal, 11269
HP:0030319HP:0030319Weakness of facial musculature0MYH7 CL E G H46257577OMIM:181430Scapuloperoneal myopathy, myh7-related.1269
HP:0030319HP:0030319Weakness of facial musculature0MYL1 CL E G H46327582OMIM:618414Myopathy, congenital, with fast-twitch (type ii) fiber atrophy.
HP:0030319HP:0030319Weakness of facial musculature0MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent131
HP:0030319HP:0030319Weakness of facial musculature0MYL2 CL E G H46337583OMIM:619424MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12131
HP:0030319HP:0030319Weakness of facial musculature0MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome5
HP:0030319HP:0030319Weakness of facial musculature0MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndrome5
HP:0030319HP:0030319Weakness of facial musculature0MYMX CL E G H10192972652391OMIM:619941
HP:0030319HP:0030319Weakness of facial musculature0MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndrome
HP:0030319HP:0030319Weakness of facial musculature0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromes
HP:0030319HP:0030319Weakness of facial musculature0MYPN CL E G H8466523246ORPHA:171881Cap myopathy217
HP:0030319HP:0030319Weakness of facial musculature0MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathy217
HP:0030319HP:0030319Weakness of facial musculature0MYPN CL E G H8466523246OMIM:617336Nemaline myopathy 11, autosomal recessive217
HP:0030319HP:0030319Weakness of facial musculature0NARS2 CL E G H7973126274OMIM:616239Combined oxidative phosphorylation deficiency 2434
HP:0030319HP:0030319Weakness of facial musculature0NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathy745
HP:0030319HP:0030319Weakness of facial musculature0NEB CL E G H47037720ORPHA:399103Distal nebulin myopathyHP:0040283 - Occasional745
HP:0030319HP:0030319Weakness of facial musculature0NEB CL E G H47037720ORPHA:171433Intermediate nemaline myopathy745
HP:0030319HP:0030319Weakness of facial musculature0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0030319HP:0030319Weakness of facial musculature0NEB CL E G H47037720ORPHA:171430Severe congenital nemaline myopathy745
HP:0030319HP:0030319Weakness of facial musculature0NEB CL E G H47037720ORPHA:171436Typical nemaline myopathy745
HP:0030319HP:0030319Weakness of facial musculature0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040283 - Occasional118
HP:0030319HP:0030319Weakness of facial musculature0NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E118
HP:0030319HP:0030319Weakness of facial musculature0NF2 CL E G H47717773ORPHA:2495Meningioma220
HP:0030319HP:0030319Weakness of facial musculature0NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2220
HP:0030319HP:0030319Weakness of facial musculature0NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 134
HP:0030319HP:0030319Weakness of facial musculature0NOD2 CL E G H641275331ORPHA:90340Blau syndrome187
HP:0030319HP:0030319Weakness of facial musculature0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040281 - Very frequent
HP:0030319HP:0030319Weakness of facial musculature0NOTCH2NLC CL E G H10099671753924OMIM:619473OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0030319HP:0030319Weakness of facial musculature0NUTM2B-AS1 CL E G H10106069151204OMIM:618637OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0030319HP:0030319Weakness of facial musculature0OPA1 CL E G H49768140ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040284 - Very rare214
HP:0030319HP:0030319Weakness of facial musculature0OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 573
HP:0030319HP:0030319Weakness of facial musculature0PABPN1 CL E G H81068565OMIM:164300Oculopharyngeal muscular dystrophy10
HP:0030319HP:0030319Weakness of facial musculature0PDGFB CL E G H51558800ORPHA:2495Meningioma9
HP:0030319HP:0030319Weakness of facial musculature0PEX1 CL E G H51898850ORPHA:772Infantile Refsum disease169
HP:0030319HP:0030319Weakness of facial musculature0PEX10 CL E G H51928851ORPHA:772Infantile Refsum disease75
HP:0030319HP:0030319Weakness of facial musculature0PEX11B CL E G H87998853ORPHA:772Infantile Refsum disease4
HP:0030319HP:0030319Weakness of facial musculature0PEX12 CL E G H51938854ORPHA:772Infantile Refsum disease65
HP:0030319HP:0030319Weakness of facial musculature0PEX13 CL E G H51948855ORPHA:772Infantile Refsum disease66
HP:0030319HP:0030319Weakness of facial musculature0PEX14 CL E G H51958856ORPHA:772Infantile Refsum disease46
HP:0030319HP:0030319Weakness of facial musculature0PEX16 CL E G H94098857ORPHA:772Infantile Refsum disease59
HP:0030319HP:0030319Weakness of facial musculature0PEX19 CL E G H58249713ORPHA:772Infantile Refsum disease62
HP:0030319HP:0030319Weakness of facial musculature0PEX2 CL E G H58289717ORPHA:772Infantile Refsum disease82
HP:0030319HP:0030319Weakness of facial musculature0PEX26 CL E G H5567022965ORPHA:772Infantile Refsum disease106
HP:0030319HP:0030319Weakness of facial musculature0PEX3 CL E G H85048858ORPHA:772Infantile Refsum disease47
HP:0030319HP:0030319Weakness of facial musculature0PEX5 CL E G H58309719ORPHA:772Infantile Refsum disease99
HP:0030319HP:0030319Weakness of facial musculature0PEX6 CL E G H51908859ORPHA:772Infantile Refsum disease98
HP:0030319HP:0030319Weakness of facial musculature0PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040282 - Frequent11
HP:0030319HP:0030319Weakness of facial musculature0PIK3CA CL E G H52908975ORPHA:2495Meningioma162
HP:0030319HP:0030319Weakness of facial musculature0PLEC CL E G H53399069ORPHA:1114Aplasia cutis congenita759
HP:0030319HP:0030319Weakness of facial musculature0PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17759
HP:0030319HP:0030319Weakness of facial musculature0PLXND1 CL E G H231299107ORPHA:570Moebius syndrome
HP:0030319HP:0030319Weakness of facial musculature0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegia464
HP:0030319HP:0030319Weakness of facial musculature0POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegia464
HP:0030319HP:0030319Weakness of facial musculature0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1464
HP:0030319HP:0030319Weakness of facial musculature0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0030319HP:0030319Weakness of facial musculature0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0030319HP:0030319Weakness of facial musculature0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegia45
HP:0030319HP:0030319Weakness of facial musculature0POLG2 CL E G H112329180OMIM:610131Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 445
HP:0030319HP:0030319Weakness of facial musculature0POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disability213
HP:0030319HP:0030319Weakness of facial musculature0POMT1 CL E G H105859202ORPHA:370980Congenital muscular dystrophy without intellectual disability213
HP:0030319HP:0030319Weakness of facial musculature0POMT1 CL E G H105859202OMIM:613155MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1213
HP:0030319HP:0030319Weakness of facial musculature0POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disability221
HP:0030319HP:0030319Weakness of facial musculature0POMT2 CL E G H2995419743OMIM:613156MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2221
HP:0030319HP:0030319Weakness of facial musculature0PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraine94
HP:0030319HP:0030319Weakness of facial musculature0PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfism6
HP:0030319HP:0030319Weakness of facial musculature0PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic disease6
HP:0030319HP:0030319Weakness of facial musculature0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome19
HP:0030319HP:0030319Weakness of facial musculature0RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromes73
HP:0030319HP:0030319Weakness of facial musculature0REV3L CL E G H59809968ORPHA:570Moebius syndrome3
HP:0030319HP:0030319Weakness of facial musculature0RILPL1 CL E G H35311626814OMIM:619790OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0030319HP:0030319Weakness of facial musculature0RNASEH1 CL E G H24624318466ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040282 - Frequent3
HP:0030319HP:0030319Weakness of facial musculature0RRM2B CL E G H5048417296ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040282 - Frequent125
HP:0030319HP:0030319Weakness of facial musculature0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegia125
HP:0030319HP:0030319Weakness of facial musculature0RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathy1200
HP:0030319HP:0030319Weakness of facial musculature0RYR1 CL E G H626110483OMIM:117000Central core disease1200
HP:0030319HP:0030319Weakness of facial musculature0RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegia1200
HP:0030319HP:0030319Weakness of facial musculature0RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0030319HP:0030319Weakness of facial musculature0RYR1 CL E G H626110483OMIM:255320Minicore myopathy with external ophthalmoplegia1200
HP:0030319HP:0030319Weakness of facial musculature0RYR1 CL E G H626110483ORPHA:178145Moderate multiminicore disease with hand involvement1200
HP:0030319HP:0030319Weakness of facial musculature0RYR1 CL E G H626110483OMIM:255310Myopathy, congenital, with fiber-type disproportion1200
HP:0030319HP:0030319Weakness of facial musculature0SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome86
HP:0030319HP:0030319Weakness of facial musculature0SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0030319HP:0030319Weakness of facial musculature0SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraine1053
HP:0030319HP:0030319Weakness of facial musculature0SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromes263
HP:0030319HP:0030319Weakness of facial musculature0SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect40
HP:0030319HP:0030319Weakness of facial musculature0SELENON CL E G H5719015999ORPHA:324604Classic multiminicore myopathyHP:0040282 - Frequent144
HP:0030319HP:0030319Weakness of facial musculature0SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent144
HP:0030319HP:0030319Weakness of facial musculature0SELENON CL E G H5719015999OMIM:255310Myopathy, congenital, with fiber-type disproportion144
HP:0030319HP:0030319Weakness of facial musculature0SELENON CL E G H5719015999OMIM:602771Rigid spine muscular dystrophy 1144
HP:0030319HP:0030319Weakness of facial musculature0SEMA3E CL E G H972310727ORPHA:138CHARGE syndrome16
HP:0030319HP:0030319Weakness of facial musculature0SGCD CL E G H644410807ORPHA:219Delta-sarcoglycan-related limb-girdle muscular dystrophy R6223
HP:0030319HP:0030319Weakness of facial musculature0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4CHP:0040283 - Occasional493
HP:0030319HP:0030319Weakness of facial musculature0SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C493
HP:0030319HP:0030319Weakness of facial musculature0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0030319HP:0030319Weakness of facial musculature0SIX1 CL E G H649510887ORPHA:107BOR syndrome50
HP:0030319HP:0030319Weakness of facial musculature0SIX1 CL E G H649510887ORPHA:52429Branchiootic syndrome50
HP:0030319HP:0030319Weakness of facial musculature0SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 150
HP:0030319HP:0030319Weakness of facial musculature0SIX5 CL E G H14791210891ORPHA:107BOR syndrome10
HP:0030319HP:0030319Weakness of facial musculature0SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy163
HP:0030319HP:0030319Weakness of facial musculature0SLC18A3 CL E G H657210936OMIM:617239Myasthenic syndrome, congenital, 21, presynaptic2
HP:0030319HP:0030319Weakness of facial musculature0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0030319HP:0030319Weakness of facial musculature0SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0030319HP:0030319Weakness of facial musculature0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromes28
HP:0030319HP:0030319Weakness of facial musculature0SLC25A21 CL E G H8987414411OMIM:618811MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0030319HP:0030319Weakness of facial musculature0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegia68
HP:0030319HP:0030319Weakness of facial musculature0SLC25A4 CL E G H29110990OMIM:609283Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 268
HP:0030319HP:0030319Weakness of facial musculature0SLC25A42 CL E G H28443928380OMIM:618416Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression.1
HP:0030319HP:0030319Weakness of facial musculature0SLC39A14 CL E G H2351620858OMIM:144755Hyperostosis cranialis interna5
HP:0030319HP:0030319Weakness of facial musculature0SLC52A2 CL E G H7958130224OMIM:614707Brown-Vialetto-Van laere syndrome 247
HP:0030319HP:0030319Weakness of facial musculature0SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 151
HP:0030319HP:0030319Weakness of facial musculature0SLC52A3 CL E G H11327816187OMIM:211500Bulbar palsy, progressive, of childhood51
HP:0030319HP:0030319Weakness of facial musculature0SLC5A7 CL E G H6048214025OMIM:617143Myasthenic syndrome, congenital, 20, presynaptic9
HP:0030319HP:0030319Weakness of facial musculature0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromes9
HP:0030319HP:0030319Weakness of facial musculature0SMARCB1 CL E G H659811103ORPHA:2495Meningioma87
HP:0030319HP:0030319Weakness of facial musculature0SMARCE1 CL E G H660511109ORPHA:2495Meningioma47
HP:0030319HP:0030319Weakness of facial musculature0SMCHD1 CL E G H2334729090OMIM:158901FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2174
HP:0030319HP:0030319Weakness of facial musculature0SMO CL E G H660811119ORPHA:2495Meningioma22
HP:0030319HP:0030319Weakness of facial musculature0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0030319HP:0030319Weakness of facial musculature0SNX10 CL E G H2988714974OMIM:615085Osteopetrosis, autosomal recessive 82
HP:0030319HP:0030319Weakness of facial musculature0SOST CL E G H5096413771OMIM:122860Craniodiaphyseal dysplasia, autosomal dominant26
HP:0030319HP:0030319Weakness of facial musculature0SOST CL E G H5096413771ORPHA:3416Hyperostosis corticalis generalisata26
HP:0030319HP:0030319Weakness of facial musculature0SOST CL E G H5096413771ORPHA:3152Sclerosteosis26
HP:0030319HP:0030319Weakness of facial musculature0SOST CL E G H5096413771OMIM:269500Sclerosteosis 126
HP:0030319HP:0030319Weakness of facial musculature0SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathy20
HP:0030319HP:0030319Weakness of facial musculature0SPEG CL E G H1029016901OMIM:615959Myopathy, centronuclear, 520
HP:0030319HP:0030319Weakness of facial musculature0SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0030319HP:0030319Weakness of facial musculature0SQSTM1 CL E G H887811280OMIM:617158MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV62
HP:0030319HP:0030319Weakness of facial musculature0SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040282 - Frequent50
HP:0030319HP:0030319Weakness of facial musculature0SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)66
HP:0030319HP:0030319Weakness of facial musculature0SUFU CL E G H5168416466ORPHA:2495Meningioma124
HP:0030319HP:0030319Weakness of facial musculature0SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0030319HP:0030319Weakness of facial musculature0SURF1 CL E G H683411474OMIM:220110Mitochondrial complex IV deficiency.73
HP:0030319HP:0030319Weakness of facial musculature0SYNE1 CL E G H2334517089OMIM:618484Arthrogryposis multiplex congenita, Myogenic type.1129
HP:0030319HP:0030319Weakness of facial musculature0SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0030319HP:0030319Weakness of facial musculature0SYT2 CL E G H12783311510OMIM:619461MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B4
HP:0030319HP:0030319Weakness of facial musculature0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromes4
HP:0030319HP:0030319Weakness of facial musculature0TCIRG1 CL E G H1031211647OMIM:259700Osteopetrosis, autosomal recessive 182
HP:0030319HP:0030319Weakness of facial musculature0TERT CL E G H701511730ORPHA:2495Meningioma238
HP:0030319HP:0030319Weakness of facial musculature0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0030319HP:0030319Weakness of facial musculature0TGFB1 CL E G H704011766ORPHA:1328Camurati-Engelmann disease13
HP:0030319HP:0030319Weakness of facial musculature0TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegia103
HP:0030319HP:0030319Weakness of facial musculature0TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type)103
HP:0030319HP:0030319Weakness of facial musculature0TK2 CL E G H708411831ORPHA:254875Mitochondrial DNA depletion syndrome, myopathic formHP:0040283 - Occasional103
HP:0030319HP:0030319Weakness of facial musculature0TK2 CL E G H708411831OMIM:617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3103
HP:0030319HP:0030319Weakness of facial musculature0TNFSF11 CL E G H860011926OMIM:259710Osteopetrosis, autosomal recessive 244
HP:0030319HP:0030319Weakness of facial musculature0TOR1A CL E G H18613098OMIM:128100Dystonia 1, torsion, autosomal dominant47
HP:0030319HP:0030319Weakness of facial musculature0TPM2 CL E G H716912011ORPHA:171881Cap myopathy54
HP:0030319HP:0030319Weakness of facial musculature0TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathy54
HP:0030319HP:0030319Weakness of facial musculature0TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent54
HP:0030319HP:0030319Weakness of facial musculature0TPM2 CL E G H716912011OMIM:255310Myopathy, congenital, with fiber-type disproportion54
HP:0030319HP:0030319Weakness of facial musculature0TPM2 CL E G H716912011OMIM:609285Nemaline myopathy 454
HP:0030319HP:0030319Weakness of facial musculature0TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathy54
HP:0030319HP:0030319Weakness of facial musculature0TPM3 CL E G H717012012ORPHA:171881Cap myopathy108
HP:0030319HP:0030319Weakness of facial musculature0TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathy108
HP:0030319HP:0030319Weakness of facial musculature0TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent108
HP:0030319HP:0030319Weakness of facial musculature0TPM3 CL E G H717012012ORPHA:171433Intermediate nemaline myopathy108
HP:0030319HP:0030319Weakness of facial musculature0TPM3 CL E G H717012012OMIM:255310Myopathy, congenital, with fiber-type disproportion108
HP:0030319HP:0030319Weakness of facial musculature0TPM3 CL E G H717012012OMIM:609284Nemaline myopathy 1108
HP:0030319HP:0030319Weakness of facial musculature0TRAF7 CL E G H8423120456ORPHA:2495Meningioma
HP:0030319HP:0030319Weakness of facial musculature0TREX1 CL E G H1127712269ORPHA:247691Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestationsHP:0040283 - Occasional56
HP:0030319HP:0030319Weakness of facial musculature0TRIM32 CL E G H2295416380OMIM:254110Muscular dystrophy, limb-girdle, type 2H108
HP:0030319HP:0030319Weakness of facial musculature0TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitusHP:0040283 - Occasional
HP:0030319HP:0030319Weakness of facial musculature0TRNN CL E G H45707493OMIM:220110Mitochondrial complex IV deficiency.
HP:0030319HP:0030319Weakness of facial musculature0TRNS1 CL E G H45747497OMIM:220110Mitochondrial complex IV deficiency.
HP:0030319HP:0030319Weakness of facial musculature0TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy214
HP:0030319HP:0030319Weakness of facial musculature0TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathy7128
HP:0030319HP:0030319Weakness of facial musculature0TTN CL E G H727312403ORPHA:324604Classic multiminicore myopathyHP:0040282 - Frequent7128
HP:0030319HP:0030319Weakness of facial musculature0TTN CL E G H727312403OMIM:611705Salih myopathy7128
HP:0030319HP:0030319Weakness of facial musculature0TUBB3 CL E G H1038120772OMIM:600638Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement64
HP:0030319HP:0030319Weakness of facial musculature0TUBB6 CL E G H8461720776OMIM:617732Facial palsy, congenital, with ptosis and velopharyngeal dysfunction
HP:0030319HP:0030319Weakness of facial musculature0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegia113
HP:0030319HP:0030319Weakness of facial musculature0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0030319HP:0030319Weakness of facial musculature0UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophyHP:0040283 - Occasional35
HP:0030319HP:0030319Weakness of facial musculature0UBA1 CL E G H731712469OMIM:301830Spinal muscular atrophy, X-linked 235
HP:0030319HP:0030319Weakness of facial musculature0UBA2 CL E G H1005430661ORPHA:1114Aplasia cutis congenita
HP:0030319HP:0030319Weakness of facial musculature0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0030319HP:0030319Weakness of facial musculature0VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutation63
HP:0030319HP:0030319Weakness of facial musculature0VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 163
HP:0030319HP:0030319Weakness of facial musculature0XRCC2 CL E G H751612829OMIM:617247FANCONI ANEMIA, COMPLEMENTATION GROUP U125
HP:0030319HP:0030319Weakness of facial musculature0YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0030319HP:0030319Weakness of facial musculature0YME1L1 CL E G H1073012843OMIM:617302Optic atrophy 112
HP:0030319HP:0030319Weakness of facial musculature0ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome19
HP:0030319HP:0030319Weakness of facial musculature0ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0030319HP:0030319Weakness of facial musculature0ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0030319HP:0010628Facial palsy1ABCA1 CL E G H1929ORPHA:31150Tangier disease191
HP:0030319HP:0010628Facial palsy1ABCA1 CL E G H1929OMIM:205400Tangier disease191
HP:0030319HP:0010628Facial palsy1ACADS CL E G H3590OMIM:201470Acyl-Coa dehydrogenase, short-chain, deficiency of.90
HP:0030319HP:0010628Facial palsy1ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathy96
HP:0030319HP:0010628Facial palsy1ACTA1 CL E G H58129ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent96
HP:0030319HP:0010628Facial palsy1ACTA1 CL E G H58129OMIM:255310Myopathy, congenital, with fiber-type disproportion.96
HP:0030319HP:0010628Facial palsy1ACTA1 CL E G H58129OMIM:616852Myopathy, scapulohumeroperoneal96
HP:0030319HP:0010628Facial palsy1ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 3.96
HP:0030319HP:0010628Facial palsy1ACTA1 CL E G H58129ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent96
HP:0030319HP:0010628Facial palsy1ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent96
HP:0030319HP:0010628Facial palsy1ACTA1 CL E G H58129ORPHA:97240Zebra body myopathyHP:0040281 - Very frequent96
HP:0030319HP:0010628Facial palsy1ADA2 CL E G H518161839OMIM:182410Sneddon syndrome.22
HP:0030319HP:0010628Facial palsy1ADCY6 CL E G H112237OMIM:616287Lethal congenital contracture syndrome 82
HP:0030319HP:0010628Facial palsy1ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyria88
HP:0030319HP:0010628Facial palsy1ADSS1 CL E G H12262220093OMIM:617030Myopathy, distal, 5.
HP:0030319HP:0010628Facial palsy1AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent127
HP:0030319HP:0010628Facial palsy1AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromes127
HP:0030319HP:0010628Facial palsy1AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent1
HP:0030319HP:0010628Facial palsy1AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040283 - Occasional54
HP:0030319HP:0010628Facial palsy1ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional12
HP:0030319HP:0010628Facial palsy1ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional46
HP:0030319HP:0010628Facial palsy1AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis.34
HP:0030319HP:0010628Facial palsy1AMER1 CL E G H13928526837ORPHA:2780Osteopathia striata-cranial sclerosis syndromeHP:0040283 - Occasional34
HP:0030319HP:0010628Facial palsy1ANKH CL E G H5617215492ORPHA:1522Craniometaphyseal dysplasiaHP:0040283 - Occasional164
HP:0030319HP:0010628Facial palsy1ANKH CL E G H5617215492OMIM:123000Craniometaphyseal dysplasia, autosomal dominant.164
HP:0030319HP:0010628Facial palsy1ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12HP:0040283 - Occasional304
HP:0030319HP:0010628Facial palsy1ANO5 CL E G H20385927337OMIM:611307Muscular dystrophy, limb-girdle, type 2L.304
HP:0030319HP:0010628Facial palsy1ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy.78
HP:0030319HP:0007209Facial paralysis1ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional239
HP:0030319HP:0010628Facial palsy1BAG3 CL E G H9531939OMIM:612954Myopathy, myofibrillar, 6.204
HP:0030319HP:0010628Facial palsy1BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040283 - Occasional184
HP:0030319HP:0010628Facial palsy1BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0030319HP:0010628Facial palsy1BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent99
HP:0030319HP:0010628Facial palsy1BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 2.99
HP:0030319HP:0010628Facial palsy1BMS1 CL E G H979023505ORPHA:1114Aplasia cutis congenitaHP:0040283 - Occasional1
HP:0030319HP:0010628Facial palsy1BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040283 - Occasional1
HP:0030319HP:0010628Facial palsy1BTNL2 CL E G H562441142OMIM:612387Sarcoidosis, susceptibility to, 2.1
HP:0030319HP:0007209Facial paralysis1CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional449
HP:0030319HP:0010628Facial palsy1CAPN3 CL E G H8251480OMIM:253600Muscular dystrophy, limb-girdle, type 2AHP:0040283 - Occasional323
HP:0030319HP:0010628Facial palsy1CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent35
HP:0030319HP:0010628Facial palsy1CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromes65
HP:0030319HP:0010628Facial palsy1CHCHD10 CL E G H40091615559OMIM:616209Myopathy, isolated mitochondrial, autosomal dominant.11
HP:0030319HP:0010628Facial palsy1CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0030319HP:0010628Facial palsy1CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040282 - Frequent515
HP:0030319HP:0010628Facial palsy1CHKB CL E G H11201938OMIM:602541Muscular dystrophy, congenital, Megaconial type.53
HP:0030319HP:0010628Facial palsy1CHRNA1 CL E G H11341955OMIM:608930Myasthenic syndrome, congenital, 1B, fast-channel.74
HP:0030319HP:0010628Facial palsy1CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent74
HP:0030319HP:0010628Facial palsy1CHRNB1 CL E G H11401961OMIM:616313Myasthenic syndrome, congenital, 2A, slow-channel.53
HP:0030319HP:0010628Facial palsy1CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent53
HP:0030319HP:0010628Facial palsy1CHRND CL E G H11441965OMIM:616322Myasthenic syndrome, congenital, 3B, fast-channel.88
HP:0030319HP:0010628Facial palsy1CHRND CL E G H11441965OMIM:616323Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency.88
HP:0030319HP:0010628Facial palsy1CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent88
HP:0030319HP:0010628Facial palsy1CHRNE CL E G H11451966OMIM:616324Myasthenic syndrome, congenital, 4B, fast-channel.139
HP:0030319HP:0010628Facial palsy1CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.139
HP:0030319HP:0010628Facial palsy1CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent139
HP:0030319HP:0010628Facial palsy1CLCN7 CL E G H11862025ORPHA:53Albers-Schönberg osteopetrosisHP:0040281 - Very frequent102
HP:0030319HP:0007209Facial paralysis1CLCN7 CL E G H11862025OMIM:166600Osteopetrosis, autosomal dominant 2.102
HP:0030319HP:0010628Facial palsy1CLCN7 CL E G H11862025OMIM:166600Osteopetrosis, autosomal dominant 2.102
HP:0030319HP:0010628Facial palsy1CLCN7 CL E G H11862025OMIM:611490Osteopetrosis, autosomal recessive 4.102
HP:0030319HP:0010628Facial palsy1CNTNAP1 CL E G H85068011OMIM:616286Lethal congenital contracture syndrome 79
HP:0030319HP:0010628Facial palsy1CNTNAP1 CL E G H85068011OMIM:618186Neuropathy, congenital hypomyelinating, 39
HP:0030319HP:0010628Facial palsy1COL12A1 CL E G H13032188OMIM:616470ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD265
HP:0030319HP:0010628Facial palsy1COL13A1 CL E G H13052190OMIM:616720Myasthenic syndrome, congenital, 19HP:0040283 - Occasional6
HP:0030319HP:0010628Facial palsy1COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent6
HP:0030319HP:0010628Facial palsy1COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromes6
HP:0030319HP:0010628Facial palsy1COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0030319HP:0007209Facial paralysis1COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies.193
HP:0030319HP:0010628Facial palsy1COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1.442
HP:0030319HP:0010628Facial palsy1COL6A2 CL E G H12922212OMIM:255600Myosclerosis, autosomal recessive.478
HP:0030319HP:0010628Facial palsy1COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1.478
HP:0030319HP:0010628Facial palsy1COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1.702
HP:0030319HP:0010628Facial palsy1COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent90
HP:0030319HP:0010628Facial palsy1CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 1.24
HP:0030319HP:0010628Facial palsy1CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disability
HP:0030319HP:0010628Facial palsy1CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathy46
HP:0030319HP:0010628Facial palsy1DCTN1 CL E G H16392711OMIM:607641Neuronopathy, distal hereditary motor, type VIIB.86
HP:0030319HP:0010628Facial palsy1DES CL E G H16742770OMIM:601419Myopathy, myofibrillar, 1.263
HP:0030319HP:0010628Facial palsy1DLL4 CL E G H545672910ORPHA:1114Aplasia cutis congenitaHP:0040283 - Occasional9
HP:0030319HP:0010628Facial palsy1DMPK CL E G H17602933OMIM:160900Myotonic dystrophy 1152
HP:0030319HP:0010628Facial palsy1DNA2 CL E G H17632939OMIM:615156Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6.41
HP:0030319HP:0010628Facial palsy1DNAJB6 CL E G H1004914888OMIM:603511Muscular dystrophy, limb-girdle, type 1EHP:0040283 - Occasional103
HP:0030319HP:0010628Facial palsy1DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0030319HP:0010628Facial palsy1DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent91
HP:0030319HP:0010628Facial palsy1DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional38
HP:0030319HP:0010628Facial palsy1EYA1 CL E G H21383519ORPHA:107BOR syndromeHP:0040283 - Occasional135
HP:0030319HP:0010628Facial palsy1EYA1 CL E G H21383519ORPHA:52429Branchiootic syndromeHP:0040283 - Occasional135
HP:0030319HP:0010628Facial palsy1EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1135
HP:0030319HP:0010628Facial palsy1FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional157
HP:0030319HP:0010628Facial palsy1FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disability157
HP:0030319HP:0010628Facial palsy1FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5.157
HP:0030319HP:0010628Facial palsy1FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disability184
HP:0030319HP:0010628Facial palsy1FRG1 CL E G H24833954OMIM:158900Facioscapulohumeral muscular dystrophy 1.1
HP:0030319HP:0010628Facial palsy1GAN CL E G H81394137ORPHA:643Giant axonal neuropathyHP:0040282 - Frequent121
HP:0030319HP:0010628Facial palsy1GAN CL E G H81394137OMIM:256850Giant axonal neuropathy 1, autosomal recessive.121
HP:0030319HP:0010628Facial palsy1GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional128
HP:0030319HP:0010628Facial palsy1GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.128
HP:0030319HP:0010628Facial palsy1GFPT1 CL E G H26734241OMIM:610542Myasthenic syndrome, congenital, with tubular aggregates 1.128
HP:0030319HP:0010628Facial palsy1GJA1 CL E G H26974274ORPHA:1522Craniometaphyseal dysplasiaHP:0040283 - Occasional68
HP:0030319HP:0010628Facial palsy1GJA1 CL E G H26974274OMIM:218400Craniometaphyseal dysplasia, autosomal recessive.68
HP:0030319HP:0010628Facial palsy1GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 2.37
HP:0030319HP:0010628Facial palsy1GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease45
HP:0030319HP:0010628Facial palsy1GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional34
HP:0030319HP:0010628Facial palsy1GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional34
HP:0030319HP:0010628Facial palsy1GNE CL E G H1002023657ORPHA:602GNE myopathyHP:0040283 - Occasional173
HP:0030319HP:0010628Facial palsy1GSN CL E G H29344620ORPHA:85448AGel amyloidosisHP:0040282 - Frequent53
HP:0030319HP:0010628Facial palsy1HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0030319HP:0010628Facial palsy1HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040283 - Occasional2
HP:0030319HP:0010628Facial palsy1HOXB1 CL E G H32115111OMIM:614744Facial paresis, hereditary congenital, 3.2
HP:0030319HP:0010628Facial palsy1ITGB4 CL E G H36916158ORPHA:1114Aplasia cutis congenitaHP:0040283 - Occasional124
HP:0030319HP:0010628Facial palsy1KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathy80
HP:0030319HP:0010628Facial palsy1KIF1B CL E G H2309516636OMIM:118210Charcot-Marie-Tooth disease, axonal, type 2A1202
HP:0030319HP:0010628Facial palsy1KLHL40 CL E G H13137730372OMIM:615348NEMALINE MYOPATHY 8; NEM828
HP:0030319HP:0010628Facial palsy1KLHL40 CL E G H13137730372ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent28
HP:0030319HP:0010628Facial palsy1KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathy13
HP:0030319HP:0010628Facial palsy1KLHL41 CL E G H1032416905ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent13
HP:0030319HP:0010628Facial palsy1KLHL41 CL E G H1032416905ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent13
HP:0030319HP:0010628Facial palsy1KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent13
HP:0030319HP:0010628Facial palsy1KY CL E G H33985526576OMIM:617114MYOPATHY, MYOFIBRILLAR, 7; MFM73
HP:0030319HP:0010628Facial palsy1LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophyHP:0040282 - Frequent411
HP:0030319HP:0010628Facial palsy1LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent92
HP:0030319HP:0010628Facial palsy1LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional136
HP:0030319HP:0010628Facial palsy1LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6.136
HP:0030319HP:0010628Facial palsy1LMOD3 CL E G H562036649OMIM:616165Nemaline myopathy 10.11
HP:0030319HP:0010628Facial palsy1LMOD3 CL E G H562036649ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent11
HP:0030319HP:0010628Facial palsy1LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent11
HP:0030319HP:0010628Facial palsy1LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1.
HP:0030319HP:0010628Facial palsy1LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent124
HP:0030319HP:0010628Facial palsy1LRP4 CL E G H40386696ORPHA:3152SclerosteosisHP:0040282 - Frequent124
HP:0030319HP:0010628Facial palsy1LRP4 CL E G H40386696OMIM:614305Sclerosteosis 2.124
HP:0030319HP:0010628Facial palsy1LRP5 CL E G H40416697ORPHA:2790Endosteal hyperostosis, Worth typeHP:0040283 - Occasional125
HP:0030319HP:0010628Facial palsy1LRP5 CL E G H40416697ORPHA:3416Hyperostosis corticalis generalisataHP:0040282 - Frequent125
HP:0030319HP:0010628Facial palsy1LRP5 CL E G H40416697ORPHA:178377Osteosclerosis-developmental delay-craniosynostosis syndromeHP:0040283 - Occasional125
HP:0030319HP:0010628Facial palsy1MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset.158
HP:0030319HP:0010628Facial palsy1MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 11.11
HP:0030319HP:0010628Facial palsy1MPZ CL E G H43597225OMIM:618184Neuropathy, congenital hypomyelinating, 2134
HP:0030319HP:0010628Facial palsy1MTM1 CL E G H45347448OMIM:310400Myopathy, centronuclear, X-linked.185
HP:0030319HP:0010628Facial palsy1MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0030319HP:0010628Facial palsy1MTMR2 CL E G H88987450OMIM:601382Charcot-Marie-Tooth disease, type 4B1.88
HP:0030319HP:0010628Facial palsy1MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7
HP:0030319HP:0007209Facial paralysis1MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7
HP:0030319HP:0010628Facial palsy1MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7
HP:0030319HP:0010628Facial palsy1MUSK CL E G H45937525OMIM:616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency.72
HP:0030319HP:0010628Facial palsy1MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent72
HP:0030319HP:0012507Weakness of orbicularis oculi muscle1MYH7 CL E G H46257577ORPHA:59135Laing early-onset distal myopathyHP:0040282 - Frequent1269
HP:0030319HP:0010628Facial palsy1MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophyHP:0040283 - Occasional1269
HP:0030319HP:0010628Facial palsy1MYH7 CL E G H46257577OMIM:255310Myopathy, congenital, with fiber-type disproportion.1269
HP:0030319HP:0010628Facial palsy1MYH7 CL E G H46257577OMIM:160500Myopathy, distal, 1.1269
HP:0030319HP:0010628Facial palsy1MYL2 CL E G H46337583OMIM:619424MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12131
HP:0030319HP:0010628Facial palsy1MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome.5
HP:0030319HP:0010628Facial palsy1MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040281 - Very frequent5
HP:0030319HP:0010628Facial palsy1MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040281 - Very frequent
HP:0030319HP:0010628Facial palsy1MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromes
HP:0030319HP:0010628Facial palsy1MYPN CL E G H8466523246ORPHA:171881Cap myopathyHP:0040283 - Occasional217
HP:0030319HP:0010628Facial palsy1MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathy217
HP:0030319HP:0010628Facial palsy1MYPN CL E G H8466523246OMIM:617336Nemaline myopathy 11, autosomal recessive.217
HP:0030319HP:0010628Facial palsy1NARS2 CL E G H7973126274OMIM:616239Combined oxidative phosphorylation deficiency 24.34
HP:0030319HP:0010628Facial palsy1NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathy745
HP:0030319HP:0010628Facial palsy1NEB CL E G H47037720ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent745
HP:0030319HP:0010628Facial palsy1NEB CL E G H47037720ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent745
HP:0030319HP:0010628Facial palsy1NEB CL E G H47037720ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent745
HP:0030319HP:0010628Facial palsy1NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2EHP:0040283 - Occasional118
HP:0030319HP:0010628Facial palsy1NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040283 - Occasional220
HP:0030319HP:0010628Facial palsy1NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2HP:0040283 - Occasional220
HP:0030319HP:0007209Facial paralysis1NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 134
HP:0030319HP:0010628Facial palsy1NOD2 CL E G H641275331ORPHA:90340Blau syndromeHP:0040283 - Occasional187
HP:0030319HP:0010628Facial palsy1OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 573
HP:0030319HP:0010628Facial palsy1PABPN1 CL E G H81068565OMIM:164300Oculopharyngeal muscular dystrophy.10
HP:0030319HP:0010628Facial palsy1PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040283 - Occasional9
HP:0030319HP:0010628Facial palsy1PEX1 CL E G H51898850ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional169
HP:0030319HP:0010628Facial palsy1PEX10 CL E G H51928851ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional75
HP:0030319HP:0010628Facial palsy1PEX11B CL E G H87998853ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional4
HP:0030319HP:0010628Facial palsy1PEX12 CL E G H51938854ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional65
HP:0030319HP:0010628Facial palsy1PEX13 CL E G H51948855ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional66
HP:0030319HP:0010628Facial palsy1PEX14 CL E G H51958856ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional46
HP:0030319HP:0010628Facial palsy1PEX16 CL E G H94098857ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional59
HP:0030319HP:0010628Facial palsy1PEX19 CL E G H58249713ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional62
HP:0030319HP:0010628Facial palsy1PEX2 CL E G H58289717ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional82
HP:0030319HP:0010628Facial palsy1PEX26 CL E G H5567022965ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional106
HP:0030319HP:0010628Facial palsy1PEX3 CL E G H85048858ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional47
HP:0030319HP:0010628Facial palsy1PEX5 CL E G H58309719ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional99
HP:0030319HP:0010628Facial palsy1PEX6 CL E G H51908859ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional98
HP:0030319HP:0010628Facial palsy1PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyria11
HP:0030319HP:0010628Facial palsy1PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040283 - Occasional162
HP:0030319HP:0010628Facial palsy1PLEC CL E G H53399069ORPHA:1114Aplasia cutis congenitaHP:0040283 - Occasional759
HP:0030319HP:0010628Facial palsy1PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17759
HP:0030319HP:0010628Facial palsy1PLXND1 CL E G H231299107ORPHA:570Moebius syndromeHP:0040281 - Very frequent
HP:0030319HP:0010628Facial palsy1POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent464
HP:0030319HP:0010628Facial palsy1POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040282 - Frequent464
HP:0030319HP:0010628Facial palsy1POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0030319HP:0010628Facial palsy1POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive.464
HP:0030319HP:0010628Facial palsy1POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent45
HP:0030319HP:0010628Facial palsy1POLG2 CL E G H112329180OMIM:610131Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4.45
HP:0030319HP:0010628Facial palsy1POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional213
HP:0030319HP:0010628Facial palsy1POMT1 CL E G H105859202ORPHA:370980Congenital muscular dystrophy without intellectual disability213
HP:0030319HP:0010628Facial palsy1POMT1 CL E G H105859202OMIM:613155MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1.213
HP:0030319HP:0010628Facial palsy1POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional221
HP:0030319HP:0010628Facial palsy1POMT2 CL E G H2995419743OMIM:613156MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2.221
HP:0030319HP:0007209Facial paralysis1PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional94
HP:0030319HP:0010628Facial palsy1PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfismHP:0040282 - Frequent6
HP:0030319HP:0010628Facial palsy1PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic diseaseHP:0040282 - Frequent6
HP:0030319HP:0010628Facial palsy1PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0030319HP:0010628Facial palsy1RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent73
HP:0030319HP:0010628Facial palsy1REV3L CL E G H59809968ORPHA:570Moebius syndromeHP:0040281 - Very frequent3
HP:0030319HP:0010628Facial palsy1RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent125
HP:0030319HP:0010628Facial palsy1RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent1200
HP:0030319HP:0010628Facial palsy1RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegiaHP:0040282 - Frequent1200
HP:0030319HP:0010628Facial palsy1RYR1 CL E G H626110483OMIM:255320Minicore myopathy with external ophthalmoplegia.1200
HP:0030319HP:0010628Facial palsy1RYR1 CL E G H626110483ORPHA:178145Moderate multiminicore disease with hand involvementHP:0040282 - Frequent1200
HP:0030319HP:0010628Facial palsy1RYR1 CL E G H626110483OMIM:255310Myopathy, congenital, with fiber-type disproportion.1200
HP:0030319HP:0010628Facial palsy1SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome.86
HP:0030319HP:0007209Facial paralysis1SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional1053
HP:0030319HP:0010628Facial palsy1SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent263
HP:0030319HP:0010628Facial palsy1SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect40
HP:0030319HP:0010628Facial palsy1SELENON CL E G H5719015999OMIM:255310Myopathy, congenital, with fiber-type disproportion.144
HP:0030319HP:0010628Facial palsy1SELENON CL E G H5719015999OMIM:602771Rigid spine muscular dystrophy 1.144
HP:0030319HP:0010628Facial palsy1SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040282 - Frequent16
HP:0030319HP:0010628Facial palsy1SGCD CL E G H644410807ORPHA:219Delta-sarcoglycan-related limb-girdle muscular dystrophy R6HP:0040282 - Frequent223
HP:0030319HP:0007209Facial paralysis1SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4C493
HP:0030319HP:0010628Facial palsy1SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C.493
HP:0030319HP:0010628Facial palsy1SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0030319HP:0010628Facial palsy1SIX1 CL E G H649510887ORPHA:107BOR syndromeHP:0040283 - Occasional50
HP:0030319HP:0010628Facial palsy1SIX1 CL E G H649510887ORPHA:52429Branchiootic syndromeHP:0040283 - Occasional50
HP:0030319HP:0010628Facial palsy1SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 150
HP:0030319HP:0010628Facial palsy1SIX5 CL E G H14791210891ORPHA:107BOR syndromeHP:0040283 - Occasional10
HP:0030319HP:0010628Facial palsy1SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy163
HP:0030319HP:0010628Facial palsy1SLC18A3 CL E G H657210936OMIM:617239Myasthenic syndrome, congenital, 21, presynaptic.2
HP:0030319HP:0010628Facial palsy1SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0030319HP:0010628Facial palsy1SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0030319HP:0010628Facial palsy1SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromes28
HP:0030319HP:0010628Facial palsy1SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent68
HP:0030319HP:0010628Facial palsy1SLC25A4 CL E G H29110990OMIM:609283Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2.68
HP:0030319HP:0010628Facial palsy1SLC39A14 CL E G H2351620858OMIM:144755Hyperostosis cranialis interna.5
HP:0030319HP:0010628Facial palsy1SLC52A2 CL E G H7958130224OMIM:614707Brown-Vialetto-Van laere syndrome 2.47
HP:0030319HP:0010628Facial palsy1SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 1.51
HP:0030319HP:0010628Facial palsy1SLC52A3 CL E G H11327816187OMIM:211500Bulbar palsy, progressive, of childhood51
HP:0030319HP:0010628Facial palsy1SLC5A7 CL E G H6048214025OMIM:617143Myasthenic syndrome, congenital, 20, presynaptic.9
HP:0030319HP:0010628Facial palsy1SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromes9
HP:0030319HP:0010628Facial palsy1SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040283 - Occasional87
HP:0030319HP:0010628Facial palsy1SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040283 - Occasional47
HP:0030319HP:0010628Facial palsy1SMCHD1 CL E G H2334729090OMIM:158901FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2174
HP:0030319HP:0010628Facial palsy1SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040283 - Occasional22
HP:0030319HP:0010628Facial palsy1SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0030319HP:0010628Facial palsy1SNX10 CL E G H2988714974OMIM:615085Osteopetrosis, autosomal recessive 8.2
HP:0030319HP:0010628Facial palsy1SOST CL E G H5096413771OMIM:122860Craniodiaphyseal dysplasia, autosomal dominant26
HP:0030319HP:0010628Facial palsy1SOST CL E G H5096413771ORPHA:3416Hyperostosis corticalis generalisataHP:0040282 - Frequent26
HP:0030319HP:0010628Facial palsy1SOST CL E G H5096413771ORPHA:3152SclerosteosisHP:0040282 - Frequent26
HP:0030319HP:0010628Facial palsy1SOST CL E G H5096413771OMIM:269500Sclerosteosis 1.26
HP:0030319HP:0010628Facial palsy1SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent20
HP:0030319HP:0010628Facial palsy1SPEG CL E G H1029016901OMIM:615959Myopathy, centronuclear, 5.20
HP:0030319HP:0010628Facial palsy1SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness.3
HP:0030319HP:0010628Facial palsy1SQSTM1 CL E G H887811280OMIM:617158MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV62
HP:0030319HP:0010628Facial palsy1SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyria50
HP:0030319HP:0010628Facial palsy1SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)66
HP:0030319HP:0010628Facial palsy1SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040283 - Occasional124
HP:0030319HP:0010628Facial palsy1SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0030319HP:0010628Facial palsy1SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0030319HP:0010628Facial palsy1SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromes4
HP:0030319HP:0007209Facial paralysis1TCIRG1 CL E G H1031211647OMIM:259700Osteopetrosis, autosomal recessive 1.82
HP:0030319HP:0010628Facial palsy1TCIRG1 CL E G H1031211647OMIM:259700Osteopetrosis, autosomal recessive 1.82
HP:0030319HP:0010628Facial palsy1TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040283 - Occasional238
HP:0030319HP:0010628Facial palsy1TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0030319HP:0010628Facial palsy1TGFB1 CL E G H704011766ORPHA:1328Camurati-Engelmann diseaseHP:0040283 - Occasional13
HP:0030319HP:0010628Facial palsy1TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040282 - Frequent103
HP:0030319HP:0010628Facial palsy1TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type)103
HP:0030319HP:0010628Facial palsy1TK2 CL E G H708411831OMIM:617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3.103
HP:0030319HP:0007209Facial paralysis1TNFSF11 CL E G H860011926OMIM:259710Osteopetrosis, autosomal recessive 2.44
HP:0030319HP:0010628Facial palsy1TOR1A CL E G H18613098OMIM:128100Dystonia 1, torsion, autosomal dominant47
HP:0030319HP:0010628Facial palsy1TPM2 CL E G H716912011ORPHA:171881Cap myopathyHP:0040283 - Occasional54
HP:0030319HP:0010628Facial palsy1TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathy54
HP:0030319HP:0010628Facial palsy1TPM2 CL E G H716912011OMIM:255310Myopathy, congenital, with fiber-type disproportion.54
HP:0030319HP:0010628Facial palsy1TPM2 CL E G H716912011OMIM:609285Nemaline myopathy 454
HP:0030319HP:0010628Facial palsy1TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent54
HP:0030319HP:0010628Facial palsy1TPM3 CL E G H717012012ORPHA:171881Cap myopathyHP:0040283 - Occasional108
HP:0030319HP:0010628Facial palsy1TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathy108
HP:0030319HP:0010628Facial palsy1TPM3 CL E G H717012012ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent108
HP:0030319HP:0010628Facial palsy1TPM3 CL E G H717012012OMIM:255310Myopathy, congenital, with fiber-type disproportion.108
HP:0030319HP:0010628Facial palsy1TPM3 CL E G H717012012OMIM:609284Nemaline myopathy 1108
HP:0030319HP:0010628Facial palsy1TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040283 - Occasional
HP:0030319HP:0010628Facial palsy1TRIM32 CL E G H2295416380OMIM:254110Muscular dystrophy, limb-girdle, type 2H.108
HP:0030319HP:0012507Weakness of orbicularis oculi muscle1TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitusHP:0040283 - Occasional
HP:0030319HP:0010628Facial palsy1TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy.214
HP:0030319HP:0010628Facial palsy1TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent7128
HP:0030319HP:0010628Facial palsy1TTN CL E G H727312403OMIM:611705Salih myopathy.7128
HP:0030319HP:0010628Facial palsy1TUBB3 CL E G H1038120772OMIM:600638Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvementHP:0040283 - Occasional64
HP:0030319HP:0010628Facial palsy1TUBB6 CL E G H8461720776OMIM:617732Facial palsy, congenital, with ptosis and velopharyngeal dysfunction.
HP:0030319HP:0010628Facial palsy1TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent113
HP:0030319HP:0010628Facial palsy1UBA1 CL E G H731712469OMIM:301830Spinal muscular atrophy, X-linked 2.35
HP:0030319HP:0010628Facial palsy1UBA2 CL E G H1005430661ORPHA:1114Aplasia cutis congenitaHP:0040283 - Occasional
HP:0030319HP:0010628Facial palsy1VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0030319HP:0010628Facial palsy1VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutation63
HP:0030319HP:0010628Facial palsy1VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1HP:0040283 - Occasional63
HP:0030319HP:0010628Facial palsy1XRCC2 CL E G H751612829OMIM:617247FANCONI ANEMIA, COMPLEMENTATION GROUP U125
HP:0030319HP:0010628Facial palsy1YME1L1 CL E G H1073012843OMIM:617302Optic atrophy 112
HP:0030319HP:0010628Facial palsy1ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome.19
HP:0030319HP:0010628Facial palsy1ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0030319HP:0010628Facial palsy1ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0030319HP:0001349Facial diplegia2ABCA1 CL E G H1929OMIM:205400Tangier disease.191
HP:0030319HP:0001349Facial diplegia2ABCA1 CL E G H1929ORPHA:31150Tangier diseaseHP:0040283 - Occasional191
HP:0030319HP:0001349Facial diplegia2ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional96
HP:0030319HP:0001349Facial diplegia2ACTA1 CL E G H58129ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional96
HP:0030319HP:0001349Facial diplegia2ACTA1 CL E G H58129ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional96
HP:0030319HP:0001349Facial diplegia2ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional96
HP:0030319HP:0001349Facial diplegia2ADCY6 CL E G H112237OMIM:616287Lethal congenital contracture syndrome 8.2
HP:0030319HP:0001349Facial diplegia2ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional88
HP:0030319HP:0004661Frontalis muscle weakness2AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent127
HP:0030319HP:0001349Facial diplegia2BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional99
HP:0030319HP:0001349Facial diplegia2CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional35
HP:0030319HP:0004661Frontalis muscle weakness2CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent65
HP:0030319HP:0001349Facial diplegia2CNTNAP1 CL E G H85068011OMIM:616286Lethal congenital contracture syndrome 7.9
HP:0030319HP:0001349Facial diplegia2CNTNAP1 CL E G H85068011OMIM:618186Neuropathy, congenital hypomyelinating, 3.9
HP:0030319HP:0004661Frontalis muscle weakness2COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent6
HP:0030319HP:0001349Facial diplegia2COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0030319HP:0001349Facial diplegia2CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent
HP:0030319HP:0001349Facial diplegia2CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathyHP:0040283 - Occasional46
HP:0030319HP:0001349Facial diplegia2DMPK CL E G H17602933OMIM:160900Myotonic dystrophy 1.152
HP:0030319HP:0001349Facial diplegia2FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent157
HP:0030319HP:0001349Facial diplegia2FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent184
HP:0030319HP:0001349Facial diplegia2GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease.45
HP:0030319HP:0012799Unilateral facial palsy2HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0030319HP:0001349Facial diplegia2KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional80
HP:0030319HP:0001349Facial diplegia2KLHL40 CL E G H13137730372ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional28
HP:0030319HP:0001349Facial diplegia2KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional13
HP:0030319HP:0001349Facial diplegia2KLHL41 CL E G H1032416905ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional13
HP:0030319HP:0001349Facial diplegia2KLHL41 CL E G H1032416905ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional13
HP:0030319HP:0001349Facial diplegia2KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional13
HP:0030319HP:0001349Facial diplegia2LMOD3 CL E G H562036649ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional11
HP:0030319HP:0001349Facial diplegia2LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional11
HP:0030319HP:0001349Facial diplegia2MPZ CL E G H43597225OMIM:618184Neuropathy, congenital hypomyelinating, 2.134
HP:0030319HP:0001349Facial diplegia2MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040283 - Occasional
HP:0030319HP:0001349Facial diplegia2MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7.
HP:0030319HP:0004661Frontalis muscle weakness2MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent
HP:0030319HP:0001349Facial diplegia2MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional217
HP:0030319HP:0001349Facial diplegia2NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional745
HP:0030319HP:0001349Facial diplegia2NEB CL E G H47037720ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional745
HP:0030319HP:0001349Facial diplegia2NEB CL E G H47037720ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional745
HP:0030319HP:0001349Facial diplegia2NEB CL E G H47037720ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional745
HP:0030319HP:0001349Facial diplegia2PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional11
HP:0030319HP:0430025Bilateral facial palsy2PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17HP:0040283 - Occasional759
HP:0030319HP:0001349Facial diplegia2POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0030319HP:0001349Facial diplegia2POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional45
HP:0030319HP:0001349Facial diplegia2POMT1 CL E G H105859202ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent213
HP:0030319HP:0001349Facial diplegia2RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional125
HP:0030319HP:0001349Facial diplegia2RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional1200
HP:0030319HP:0001349Facial diplegia2RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegiaHP:0040283 - Occasional1200
HP:0030319HP:0001349Facial diplegia2SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defectHP:0040282 - Frequent40
HP:0030319HP:0001349Facial diplegia2SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0030319HP:0001349Facial diplegia2SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy.163
HP:0030319HP:0004661Frontalis muscle weakness2SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent2
HP:0030319HP:0004661Frontalis muscle weakness2SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent28
HP:0030319HP:0001349Facial diplegia2SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional68
HP:0030319HP:0001349Facial diplegia2SLC52A3 CL E G H11327816187OMIM:211500Bulbar palsy, progressive, of childhood.51
HP:0030319HP:0004661Frontalis muscle weakness2SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent9
HP:0030319HP:0004661Frontalis muscle weakness2SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent2
HP:0030319HP:0001349Facial diplegia2SOST CL E G H5096413771OMIM:122860Craniodiaphyseal dysplasia, autosomal dominant.26
HP:0030319HP:0001349Facial diplegia2SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional20
HP:0030319HP:0001349Facial diplegia2SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional50
HP:0030319HP:0001349Facial diplegia2SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria).66
HP:0030319HP:0012799Unilateral facial palsy2SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0030319HP:0430025Bilateral facial palsy2SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0030319HP:0004661Frontalis muscle weakness2SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent4
HP:0030319HP:0001349Facial diplegia2TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type).103
HP:0030319HP:0001349Facial diplegia2TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional54
HP:0030319HP:0001349Facial diplegia2TPM2 CL E G H716912011OMIM:609285Nemaline myopathy 4.54
HP:0030319HP:0001349Facial diplegia2TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional54
HP:0030319HP:0001349Facial diplegia2TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional108
HP:0030319HP:0001349Facial diplegia2TPM3 CL E G H717012012ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional108
HP:0030319HP:0001349Facial diplegia2TPM3 CL E G H717012012OMIM:609284Nemaline myopathy 1.108
HP:0030319HP:0001349Facial diplegia2TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional7128
HP:0030319HP:0001349Facial diplegia2TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional113
HP:0030319HP:0004661Frontalis muscle weakness2VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent2
HP:0030319HP:0001349Facial diplegia2VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutationHP:0040283 - Occasional63
HP:0030319HP:0012799Unilateral facial palsy2XRCC2 CL E G H751612829OMIM:617247FANCONI ANEMIA, COMPLEMENTATION GROUP U125
HP:0030319HP:0001349Facial diplegia2YME1L1 CL E G H1073012843OMIM:617302Optic atrophy 11.2
HP:0030319HP:0001349Facial diplegia2ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0030319HP:0007188Congenital facial diplegia3COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0030319HP:0007188Congenital facial diplegia3ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis


Genes (232) :ABCA1 ACADS ACTA1 ACTN2 ADA2 ADCY6 ADGRG1 ADSS1 AGRN AK9 AKT1 ALG14 ALG2 AMER1 ANKH ANO5 ANXA11 ASAH1 ATP1A2 BAG3 BAP1 BICRA BIN1 BMS1 BTNL2 CACNA1A CADM3 CAPN3 CFL2 CHAT CHCHD10 CHD7 CHKB CHRNA1 CHRNB1 CHRND CHRNE CHRNG CLCF1 CLCN7 CNBP CNTNAP1 COL12A1 COL13A1 COL25A1 COL4A1 COL6A1 COL6A2 COL6A3 COLQ COX6A2 CRLF1 CRPPA CRYAB DBH DCTN1 DES DLL4 DMPK DNA2 DNAJB6 DNM1L DNM2 DNMT3B DOK7 DPAGT1 EBF3 EYA1 FKRP FKTN FLNC FRG1 GAN GDAP1 GFPT1 GIPC1 GJA1 GJC2 GLE1 GMPPB GNE GSN HACD1 HK1 HLA-DRB1 HOXB1 IRF2BPL ITGA7 ITGB4 JAG2 KBTBD13 KIF1B KLHL40 KLHL41 KY LAMA2 LAMB2 LARGE1 LMOD3 LRIF1 LRP12 LRP4 LRP5 MAP3K20 MEGF10 MGME1 MPZ MSTO1 MTM1 MTMR14 MTMR2 MTRFR MUSK MYH7 MYL1 MYL2 MYMK MYMX MYO9A MYPN NARS2 NEB NEFL NF2 NFU1 NOD2 NOTCH2NLC NUTM2B-AS1 OPA1 OSTM1 PABPN1 PDGFB PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PI4KA PIK3CA PLEC PLXND1 POLG POLG2 POMT1 POMT2 PRRT2 PTDSS1 PTRH2 PUF60 RAPSN REV3L RILPL1 RNASEH1 RRM2B RYR1 SALL4 SBF2 SCN1A SCN4A SCO2 SELENON SEMA3E SGCD SH3TC2 SHMT2 SIX1 SIX5 SLC12A6 SLC18A3 SLC19A3 SLC25A1 SLC25A21 SLC25A4 SLC25A42 SLC39A14 SLC52A2 SLC52A3 SLC5A7 SMARCB1 SMARCE1 SMCHD1 SMO SNAP25 SNX10 SOST SPEG SPTBN4 SQSTM1 SRPX2 SUCLA2 SUFU SUPT16H SURF1 SYNE1 SYT2 TCIRG1 TERT TFAP2A TGFB1 TK2 TNFSF11 TOR1A TPM2 TPM3 TRAF7 TREX1 TRIM32 TRNE TRNN TRNS1 TRPV4 TTN TUBB3 TUBB6 TWNK UBA1 UBA2 VAMP1 VCP XRCC2 YARS1 YME1L1 ZC4H2 ZFHX4

Diseases (235) :ORPHA:31150 OMIM:205400 OMIM:201470 ORPHA:171439 ORPHA:2020 ORPHA:171433 OMIM:255310 OMIM:616852 OMIM:161800 ORPHA:171430 ORPHA:171436 ORPHA:97240 OMIM:618654 OMIM:182410 OMIM:616287 ORPHA:98889 ORPHA:482601 OMIM:617030 OMIM:615120 ORPHA:98913 ORPHA:98914 ORPHA:2495 ORPHA:353327 OMIM:300373 ORPHA:2780 ORPHA:1522 OMIM:123000 ORPHA:206549 OMIM:611307 OMIM:619733 OMIM:159950 ORPHA:569 OMIM:612954 OMIM:619325 ORPHA:169186 OMIM:255200 ORPHA:1114 ORPHA:797 OMIM:612387 OMIM:619519 OMIM:253600 OMIM:610687 ORPHA:457050 OMIM:616209 ORPHA:138 OMIM:214800 OMIM:602541 OMIM:608930 OMIM:616313 OMIM:616322 OMIM:616323 OMIM:616324 OMIM:608931 OMIM:265000 OMIM:610313 ORPHA:53 OMIM:166600 OMIM:611490 OMIM:602668 OMIM:616286 OMIM:618186 ORPHA:536516 OMIM:616470 OMIM:616720 ORPHA:91411 OMIM:175780 OMIM:254090 OMIM:255600 ORPHA:98915 OMIM:619062 OMIM:272430 ORPHA:370980 ORPHA:399058 OMIM:223360 OMIM:607641 ORPHA:98909 OMIM:601419 OMIM:160900 OMIM:615156 OMIM:603511 ORPHA:98673 OMIM:160150 OMIM:619478 OMIM:254300 OMIM:617330 ORPHA:107 ORPHA:52429 OMIM:113650 ORPHA:370968 OMIM:606612 ORPHA:63273 OMIM:158900 ORPHA:643 OMIM:256850 ORPHA:99948 OMIM:610542 ORPHA:98897 OMIM:618940 OMIM:218400 OMIM:608804 OMIM:611890 ORPHA:602 ORPHA:85448 OMIM:619967 OMIM:618547 OMIM:614744 OMIM:618088 OMIM:619566 OMIM:118210 OMIM:615348 OMIM:617114 ORPHA:258 OMIM:608840 OMIM:616165 OMIM:619477 OMIM:164310 ORPHA:3152 OMIM:614305 ORPHA:2790 ORPHA:3416 ORPHA:178377 OMIM:614399 OMIM:615084 ORPHA:352447 OMIM:618184 ORPHA:502423 OMIM:310400 ORPHA:596 OMIM:601382 ORPHA:254930 OMIM:613559 OMIM:616325 ORPHA:324604 ORPHA:59135 ORPHA:437572 OMIM:160500 OMIM:181430 OMIM:618414 OMIM:619424 OMIM:254940 ORPHA:1358 OMIM:619941 ORPHA:171881 OMIM:617336 OMIM:616239 ORPHA:399103 OMIM:256030 ORPHA:101085 OMIM:607684 ORPHA:637 OMIM:605711 ORPHA:90340 OMIM:619473 OMIM:618637 OMIM:259720 OMIM:164300 ORPHA:772 ORPHA:254361 ORPHA:570 ORPHA:254892 ORPHA:254886 OMIM:157640 OMIM:258450 OMIM:607459 OMIM:610131 OMIM:613155 OMIM:613156 ORPHA:2658 ORPHA:456312 ORPHA:508498 OMIM:619790 ORPHA:329336 OMIM:117000 ORPHA:98905 OMIM:619542 OMIM:255320 ORPHA:178145 OMIM:607323 ORPHA:99956 ORPHA:521411 OMIM:602771 ORPHA:219 ORPHA:99949 OMIM:601596 OMIM:619121 OMIM:218000 OMIM:617239 OMIM:607483 OMIM:618811 OMIM:609283 OMIM:618416 OMIM:144755 OMIM:614707 OMIM:211530 OMIM:211500 OMIM:617143 OMIM:158901 OMIM:615085 OMIM:122860 OMIM:269500 OMIM:615959 OMIM:617519 OMIM:617158 OMIM:612073 OMIM:619480 OMIM:220110 OMIM:618484 ORPHA:319332 OMIM:619461 OMIM:259700 OMIM:113620 ORPHA:1328 OMIM:609560 ORPHA:254875 OMIM:617069 OMIM:259710 OMIM:128100 OMIM:609285 OMIM:609284 ORPHA:247691 OMIM:254110 ORPHA:2596 OMIM:181405 OMIM:611705 OMIM:600638 OMIM:617732 ORPHA:1145 OMIM:301830 ORPHA:329478 OMIM:167320 OMIM:617247 OMIM:619418 OMIM:617302 OMIM:314580 OMIM:301041
 

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