Human Phenotype Ontology 
Grandparent Node:
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Phenotypic abnormality (HP:0000118)help
Parent Node:
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Abnormality of facial soft tissue (HP:0011799)help
Parent Node:
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Abnormality of the musculature (HP:0003011)help
..Starting node
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Abnormality of facial musculature (HP:0000301)help
Term ID: 301
Name: Abnormality of facial musculature
Synonym: Abnormality of facial muscles; Facial muscle issue
Definition: An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve).
Comments:
Reference: HP:0000301
Genes and Diseases:
 
       Child Nodes:
........expandFacial hypotonia (HP:0000297) help
........expandFacial myokymia (HP:0000317) help
........expandHypomimic face (HP:0000338) help
........expandSpasticity of facial muscles (HP:0002491) help
........expandHypoplasia of facial musculature (HP:0004660) help
........expandFacial muscle hypertrophy (HP:0012892) help
........expandWeakness of facial musculature (HP:0030319) help
................... HP:0007209 Facial paralysis
................... HP:0010628 Facial palsy
................... HP:0012507 Weakness of orbicularis oculi muscle
........expandAbnormality of jaw muscles (HP:0045037) help
................... HP:0012392 Jaw hyporeflexia
................... HP:0410011 Abnormality of masticatory muscle
........expandAbnormality of nasal musculature (HP:0430018) help
................... HP:3000009 Abnormality of nasalis muscle
................... HP:3000014 Abnormality of procerus muscle
........expandAbnormality of muscle of facial expression (HP:0430019) help
................... HP:0430020 Abnormality of levator labii superioris alaeque nasi muscle
................... HP:3000007 Abnormality of mentalis muscle
................... HP:3000010 Abnormality of orbicularis oris muscle
................... HP:3000015 Abnormality of risorius muscle
................... HP:3000018 Abnormality of zygomaticus major muscle
................... HP:3000020 Abnormality of zygomaticus minor muscle
................... HP:3000028 Abnormality of depressor anguli oris muscle
................... HP:3000029 Abnormality of depressor labii inferioris
................... HP:3000070 Abnormality of levator anguli oris
................... HP:3000071 Abnormality of levator labii superioris
........expandAbnormality of mylohyoid muscle (HP:3000008) help
........expandAbnormality of platysma (HP:3000013) help

 Sister Nodes: 
..expandAbnormal axial muscle morphology (HP:0040286) help
..expandAbnormal hyoglossus muscle morphology (HP:3000051) help
..expandAbnormal lateral cricoarytenoid muscle morphology (HP:3000067) help
..expandAbnormal mitochondria in muscle tissue (HP:0008316) help
..expandAbnormal morphology of musculature of pharynx (HP:0430015) help
..expandAbnormal morphology of the abdominal musculature (HP:0010991) help
..expandAbnormal morphology of the chest musculature (HP:0410167) help
..expandAbnormal morphology of the musculature of the neck (HP:0011006) help
..expandAbnormal morphology of the pelvis musculature (HP:0001469) help
..expandAbnormal morphology of the shoulder musculature (HP:0410169) help
..expandAbnormal muscle physiology (HP:0011804) help
..expandAbnormal skeletal muscle morphology (HP:0011805) help
..expandAbnormality of musculature of soft palate (HP:0430014) help
..expandAbnormality of occipitofrontalis muscle (HP:0040172) help
..expandAbnormality of the back musculature (HP:0410168) help
..expandAbnormality of the diaphragm (HP:0000775) help
..expandAbnormality of the extraocular muscles (HP:0008049) help
..expandAbnormality of the musculature of the limbs (HP:0009127) help
..expandAbnormality of the musculature of the thorax (HP:0009131) help
..expandAbnormality of the tongue muscle (HP:0040173) help
..expandCalcification of muscles (HP:0100249) help
..expandGastroparesis (HP:0002578) help
..expandIncreased intramuscular fat (HP:0008985) help
..expandMuscle abnormality related to mitochondrial dysfunction (HP:0003800) help
..expandMuscle hemorrhage (HP:0040242) help
..expandNeoplasm of striated muscle (HP:0009728) help
..expandobsolete Abnormality of skeletal muscles (HP:0040290) 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:0000301HP:0000301Abnormality of facial musculature0ABCA1 CL E G H1929OMIM:205400Tangier disease191
HP:0000301HP:0000301Abnormality of facial musculature0ABCA1 CL E G H1929ORPHA:31150Tangier disease191
HP:0000301HP:0000301Abnormality of facial musculature0ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophy135
HP:0000301HP:0000301Abnormality of facial musculature0ACADS CL E G H3590OMIM:201470Acyl-Coa dehydrogenase, short-chain, deficiency of90
HP:0000301HP:0000301Abnormality of facial musculature0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathy96
HP:0000301HP:0000301Abnormality of facial musculature0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathy96
HP:0000301HP:0000301Abnormality of facial musculature0ACTA1 CL E G H58129ORPHA:171433Intermediate nemaline myopathy96
HP:0000301HP:0000301Abnormality of facial musculature0ACTA1 CL E G H58129OMIM:255310Myopathy, congenital, with fiber-type disproportion96
HP:0000301HP:0000301Abnormality of facial musculature0ACTA1 CL E G H58129OMIM:616852Myopathy, scapulohumeroperoneal96
HP:0000301HP:0000301Abnormality of facial musculature0ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 396
HP:0000301HP:0000301Abnormality of facial musculature0ACTA1 CL E G H58129ORPHA:171430Severe congenital nemaline myopathy96
HP:0000301HP:0000301Abnormality of facial musculature0ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathy96
HP:0000301HP:0000301Abnormality of facial musculature0ACTA1 CL E G H58129ORPHA:97240Zebra body myopathy96
HP:0000301HP:0000301Abnormality of facial musculature0ACTN2 CL E G H88164OMIM:618654MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ307
HP:0000301HP:0000301Abnormality of facial musculature0ADA2 CL E G H518161839OMIM:182410Sneddon syndrome22
HP:0000301HP:0000301Abnormality of facial musculature0ADCY5 CL E G H111236OMIM:606703Dyskinesia, familial, with facial myokymia25
HP:0000301HP:0000301Abnormality of facial musculature0ADCY5 CL E G H111236ORPHA:324588Familial dyskinesia and facial myokymia25
HP:0000301HP:0000301Abnormality of facial musculature0ADCY6 CL E G H112237OMIM:616287Lethal congenital contracture syndrome 82
HP:0000301HP:0000301Abnormality of facial musculature0ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyria88
HP:0000301HP:0000301Abnormality of facial musculature0ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0000301HP:0000301Abnormality of facial musculature0ADSS1 CL E G H12262220093OMIM:617030Myopathy, distal, 5
HP:0000301HP:0000301Abnormality of facial musculature0AGRN CL E G H375790329OMIM:615120Myasthenic syndrome, congenital, 8127
HP:0000301HP:0000301Abnormality of facial musculature0AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromes127
HP:0000301HP:0000301Abnormality of facial musculature0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromes127
HP:0000301HP:0000301Abnormality of facial musculature0AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromes1
HP:0000301HP:0000301Abnormality of facial musculature0AKT1 CL E G H207391ORPHA:2495Meningioma54
HP:0000301HP:0000301Abnormality of facial musculature0ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defect12
HP:0000301HP:0000301Abnormality of facial musculature0ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defect46
HP:0000301HP:0000301Abnormality of facial musculature0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0000301HP:0000301Abnormality of facial musculature0ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile114
HP:0000301HP:0000301Abnormality of facial musculature0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis34
HP:0000301HP:0000301Abnormality of facial musculature0AMER1 CL E G H13928526837ORPHA:2780Osteopathia striata-cranial sclerosis syndrome34
HP:0000301HP:0000301Abnormality of facial musculature0AMPD2 CL E G H271469OMIM:615809Pontocerebellar hypoplasia, type 921
HP:0000301HP:0000301Abnormality of facial musculature0ANKH CL E G H5617215492ORPHA:1522Craniometaphyseal dysplasia164
HP:0000301HP:0000301Abnormality of facial musculature0ANKH CL E G H5617215492OMIM:123000Craniometaphyseal dysplasia, autosomal dominant164
HP:0000301HP:0000301Abnormality of facial musculature0ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12304
HP:0000301HP:0000301Abnormality of facial musculature0ANO5 CL E G H20385927337OMIM:611307Muscular dystrophy, limb-girdle, type 2L304
HP:0000301HP:0000301Abnormality of facial musculature0ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0000301HP:0000301Abnormality of facial musculature0AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegia49
HP:0000301HP:0000301Abnormality of facial musculature0AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegia48
HP:0000301HP:0000301Abnormality of facial musculature0AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive48
HP:0000301HP:0000301Abnormality of facial musculature0AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegia41
HP:0000301HP:0000301Abnormality of facial musculature0AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegia18
HP:0000301HP:0000301Abnormality of facial musculature0AP4S1 CL E G H11154575OMIM:614067Spastic paraplegia 52, autosomal recessive18
HP:0000301HP:0000301Abnormality of facial musculature0ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy78
HP:0000301HP:0000301Abnormality of facial musculature0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndrome145
HP:0000301HP:0000301Abnormality of facial musculature0ATP13A2 CL E G H2340030213ORPHA:513436Autosomal recessive spastic paraplegia type 78100
HP:0000301HP:0000301Abnormality of facial musculature0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndrome100
HP:0000301HP:0000301Abnormality of facial musculature0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhood239
HP:0000301HP:0000301Abnormality of facial musculature0ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraine239
HP:0000301HP:0000301Abnormality of facial musculature0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhood150
HP:0000301HP:0000301Abnormality of facial musculature0ATP1A3 CL E G H478801OMIM:128235Dystonia 12150
HP:0000301HP:0000301Abnormality of facial musculature0ATP1A3 CL E G H478801ORPHA:71517Rapid-onset dystonia-parkinsonism150
HP:0000301HP:0000301Abnormality of facial musculature0ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0000301HP:0000301Abnormality of facial musculature0ATP6AP2 CL E G H1015918305OMIM:300911Parkinsonism with spasticity, X-linked36
HP:0000301HP:0000301Abnormality of facial musculature0ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera type36
HP:0000301HP:0000301Abnormality of facial musculature0ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 119
HP:0000301HP:0000301Abnormality of facial musculature0BAG3 CL E G H9531939OMIM:612954Myopathy, myofibrillar, 6204
HP:0000301HP:0000301Abnormality of facial musculature0BAP1 CL E G H8314950ORPHA:2495Meningioma184
HP:0000301HP:0000301Abnormality of facial musculature0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0000301HP:0000301Abnormality of facial musculature0BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathy99
HP:0000301HP:0000301Abnormality of facial musculature0BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 299
HP:0000301HP:0000301Abnormality of facial musculature0BMS1 CL E G H979023505ORPHA:1114Aplasia cutis congenita1
HP:0000301HP:0000301Abnormality of facial musculature0BTNL2 CL E G H562441142ORPHA:797Sarcoidosis1
HP:0000301HP:0000301Abnormality of facial musculature0BTNL2 CL E G H562441142OMIM:612387Sarcoidosis, susceptibility to, 21
HP:0000301HP:0000301Abnormality of facial musculature0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhood449
HP:0000301HP:0000301Abnormality of facial musculature0CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraine449
HP:0000301HP:0000301Abnormality of facial musculature0CACNA1S CL E G H7791397ORPHA:423Malignant hyperthermia of anesthesia247
HP:0000301HP:0000301Abnormality of facial musculature0CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0000301HP:0000301Abnormality of facial musculature0CAMK2G CL E G H8181463OMIM:618522Intellectual developmental disorder 591
HP:0000301HP:0000301Abnormality of facial musculature0CAPN3 CL E G H8251480OMIM:253600Muscular dystrophy, limb-girdle, type 2A323
HP:0000301HP:0000301Abnormality of facial musculature0CC2D1A CL E G H5486230237OMIM:608443Mental retardation, autosomal recessive 357
HP:0000301HP:0000301Abnormality of facial musculature0CFL2 CL E G H10731875OMIM:610687Nemaline myopathy 735
HP:0000301HP:0000301Abnormality of facial musculature0CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathy35
HP:0000301HP:0000301Abnormality of facial musculature0CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 4016
HP:0000301HP:0000301Abnormality of facial musculature0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromes65
HP:0000301HP:0000301Abnormality of facial musculature0CHCHD10 CL E G H40091615559ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intolerance11
HP:0000301HP:0000301Abnormality of facial musculature0CHCHD10 CL E G H40091615559OMIM:616209Myopathy, isolated mitochondrial, autosomal dominant11
HP:0000301HP:0000301Abnormality of facial musculature0CHD7 CL E G H5563620626ORPHA:138CHARGE syndrome515
HP:0000301HP:0000301Abnormality of facial musculature0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0000301HP:0000301Abnormality of facial musculature0CHKB CL E G H11201938OMIM:602541Muscular dystrophy, congenital, Megaconial type53
HP:0000301HP:0000301Abnormality of facial musculature0CHRNA1 CL E G H11341955OMIM:608930Myasthenic syndrome, congenital, 1B, fast-channel74
HP:0000301HP:0000301Abnormality of facial musculature0CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromes74
HP:0000301HP:0000301Abnormality of facial musculature0CHRNB1 CL E G H11401961OMIM:616313Myasthenic syndrome, congenital, 2A, slow-channel53
HP:0000301HP:0000301Abnormality of facial musculature0CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromes53
HP:0000301HP:0000301Abnormality of facial musculature0CHRND CL E G H11441965OMIM:616322Myasthenic syndrome, congenital, 3B, fast-channel88
HP:0000301HP:0000301Abnormality of facial musculature0CHRND CL E G H11441965OMIM:616323Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency88
HP:0000301HP:0000301Abnormality of facial musculature0CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromes88
HP:0000301HP:0000301Abnormality of facial musculature0CHRNE CL E G H11451966OMIM:616324Myasthenic syndrome, congenital, 4B, fast-channel139
HP:0000301HP:0000301Abnormality of facial musculature0CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency139
HP:0000301HP:0000301Abnormality of facial musculature0CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromes139
HP:0000301HP:0000301Abnormality of facial musculature0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0000301HP:0000301Abnormality of facial musculature0CLCF1 CL E G H2352917412OMIM:610313Cold-Induced sweating syndrome 26
HP:0000301HP:0000301Abnormality of facial musculature0CLCN7 CL E G H11862025ORPHA:53Albers-Schönberg osteopetrosis102
HP:0000301HP:0000301Abnormality of facial musculature0CLCN7 CL E G H11862025OMIM:166600Osteopetrosis, autosomal dominant 2102
HP:0000301HP:0000301Abnormality of facial musculature0CLCN7 CL E G H11862025OMIM:611490Osteopetrosis, autosomal recessive 4102
HP:0000301HP:0000301Abnormality of facial musculature0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 561
HP:0000301HP:0000301Abnormality of facial musculature0CNBP CL E G H755513164OMIM:602668Dystrophia myotonica 21
HP:0000301HP:0000301Abnormality of facial musculature0CNTNAP1 CL E G H85068011OMIM:616286Lethal congenital contracture syndrome 79
HP:0000301HP:0000301Abnormality of facial musculature0CNTNAP1 CL E G H85068011OMIM:618186Neuropathy, congenital hypomyelinating, 39
HP:0000301HP:0000301Abnormality of facial musculature0COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndrome65
HP:0000301HP:0000301Abnormality of facial musculature0COL12A1 CL E G H13032188OMIM:616470ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD265
HP:0000301HP:0000301Abnormality of facial musculature0COL13A1 CL E G H13052190OMIM:616720Myasthenic syndrome, congenital, 196
HP:0000301HP:0000301Abnormality of facial musculature0COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromes6
HP:0000301HP:0000301Abnormality of facial musculature0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromes6
HP:0000301HP:0000301Abnormality of facial musculature0COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0000301HP:0000301Abnormality of facial musculature0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies193
HP:0000301HP:0000301Abnormality of facial musculature0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1442
HP:0000301HP:0000301Abnormality of facial musculature0COL6A2 CL E G H12922212OMIM:255600Myosclerosis, autosomal recessive478
HP:0000301HP:0000301Abnormality of facial musculature0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1478
HP:0000301HP:0000301Abnormality of facial musculature0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1702
HP:0000301HP:0000301Abnormality of facial musculature0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromes90
HP:0000301HP:0000301Abnormality of facial musculature0COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0000301HP:0000301Abnormality of facial musculature0COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0000301HP:0000301Abnormality of facial musculature0COX6A2 CL E G H13392279OMIM:619062MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0000301HP:0000301Abnormality of facial musculature0CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 124
HP:0000301HP:0000301Abnormality of facial musculature0CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disability
HP:0000301HP:0000301Abnormality of facial musculature0CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathy46
HP:0000301HP:0000301Abnormality of facial musculature0DBH CL E G H16212689OMIM:223360Dopamine beta-hydroxylase deficiency, congenital80
HP:0000301HP:0000301Abnormality of facial musculature0DCTN1 CL E G H16392711OMIM:607641Neuronopathy, distal hereditary motor, type VIIB86
HP:0000301HP:0000301Abnormality of facial musculature0DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive29
HP:0000301HP:0000301Abnormality of facial musculature0DES CL E G H16742770ORPHA:98909Desminopathy263
HP:0000301HP:0000301Abnormality of facial musculature0DES CL E G H16742770OMIM:601419Myopathy, myofibrillar, 1263
HP:0000301HP:0000301Abnormality of facial musculature0DLL4 CL E G H545672910ORPHA:1114Aplasia cutis congenita9
HP:0000301HP:0000301Abnormality of facial musculature0DMPK CL E G H17602933ORPHA:589821Congenital-onset Steinert myotonic dystrophy152
HP:0000301HP:0000301Abnormality of facial musculature0DMPK CL E G H17602933OMIM:160900Myotonic dystrophy 1152
HP:0000301HP:0000301Abnormality of facial musculature0DNA2 CL E G H17632939OMIM:615156Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 641
HP:0000301HP:0000301Abnormality of facial musculature0DNAJB6 CL E G H1004914888OMIM:603511Muscular dystrophy, limb-girdle, type 1E103
HP:0000301HP:0000301Abnormality of facial musculature0DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0000301HP:0000301Abnormality of facial musculature0DNAJC6 CL E G H982915469ORPHA:391411Atypical juvenile parkinsonism6
HP:0000301HP:0000301Abnormality of facial musculature0DNAJC6 CL E G H982915469OMIM:615528Parkinson disease 19a, juvenile-onset6
HP:0000301HP:0000301Abnormality of facial musculature0DNM1L CL E G H100592973ORPHA:98673Autosomal dominant optic atrophy, classic form94
HP:0000301HP:0000301Abnormality of facial musculature0DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0000301HP:0000301Abnormality of facial musculature0DNMT3B CL E G H17892979OMIM:619478FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC; FSHD479
HP:0000301HP:0000301Abnormality of facial musculature0DOK7 CL E G H28548926594OMIM:254300Myasthenia, limb-girdle, familial91
HP:0000301HP:0000301Abnormality of facial musculature0DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromes91
HP:0000301HP:0000301Abnormality of facial musculature0DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defect38
HP:0000301HP:0000301Abnormality of facial musculature0DSE CL E G H2994021144OMIM:615539Ehlers-Danlos syndrome, musculocontractural type, 213
HP:0000301HP:0000301Abnormality of facial musculature0DYNC1H1 CL E G H17782961OMIM:614563Mental retardation, autosomal dominant 13427
HP:0000301HP:0000301Abnormality of facial musculature0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0000301HP:0000301Abnormality of facial musculature0EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0000301HP:0000301Abnormality of facial musculature0EYA1 CL E G H21383519ORPHA:107BOR syndrome135
HP:0000301HP:0000301Abnormality of facial musculature0EYA1 CL E G H21383519ORPHA:52429Branchiootic syndrome135
HP:0000301HP:0000301Abnormality of facial musculature0EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1135
HP:0000301HP:0000301Abnormality of facial musculature0FBXO7 CL E G H2579313586OMIM:260300Parkinson disease 15, autosomal recessive early-onset36
HP:0000301HP:0000301Abnormality of facial musculature0FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndrome36
HP:0000301HP:0000301Abnormality of facial musculature0FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disability157
HP:0000301HP:0000301Abnormality of facial musculature0FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disability157
HP:0000301HP:0000301Abnormality of facial musculature0FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5157
HP:0000301HP:0000301Abnormality of facial musculature0FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disability184
HP:0000301HP:0000301Abnormality of facial musculature0FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvement197
HP:0000301HP:0000301Abnormality of facial musculature0FRG1 CL E G H24833954OMIM:158900Facioscapulohumeral muscular dystrophy 11
HP:0000301HP:0000301Abnormality of facial musculature0FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 333
HP:0000301HP:0000301Abnormality of facial musculature0FTL CL E G H25123999ORPHA:157846Neuroferritinopathy33
HP:0000301HP:0000301Abnormality of facial musculature0GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onset407
HP:0000301HP:0000301Abnormality of facial musculature0GAN CL E G H81394137ORPHA:643Giant axonal neuropathy121
HP:0000301HP:0000301Abnormality of facial musculature0GAN CL E G H81394137OMIM:256850Giant axonal neuropathy 1, autosomal recessive121
HP:0000301HP:0000301Abnormality of facial musculature0GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson disease
HP:0000301HP:0000301Abnormality of facial musculature0GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0000301HP:0000301Abnormality of facial musculature0GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defect128
HP:0000301HP:0000301Abnormality of facial musculature0GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency128
HP:0000301HP:0000301Abnormality of facial musculature0GFPT1 CL E G H26734241OMIM:610542Myasthenic syndrome, congenital, with tubular aggregates 1128
HP:0000301HP:0000301Abnormality of facial musculature0GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson disease8
HP:0000301HP:0000301Abnormality of facial musculature0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040281 - Very frequent
HP:0000301HP:0000301Abnormality of facial musculature0GIPC1 CL E G H107551226OMIM:618940OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0000301HP:0000301Abnormality of facial musculature0GJA1 CL E G H26974274ORPHA:1522Craniometaphyseal dysplasia68
HP:0000301HP:0000301Abnormality of facial musculature0GJA1 CL E G H26974274OMIM:218400Craniometaphyseal dysplasia, autosomal recessive68
HP:0000301HP:0000301Abnormality of facial musculature0GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 237
HP:0000301HP:0000301Abnormality of facial musculature0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease45
HP:0000301HP:0000301Abnormality of facial musculature0GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disability34
HP:0000301HP:0000301Abnormality of facial musculature0GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defect34
HP:0000301HP:0000301Abnormality of facial musculature0GNE CL E G H1002023657ORPHA:602GNE myopathy173
HP:0000301HP:0000301Abnormality of facial musculature0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0000301HP:0000301Abnormality of facial musculature0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0000301HP:0000301Abnormality of facial musculature0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutations30
HP:0000301HP:0000301Abnormality of facial musculature0GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0000301HP:0000301Abnormality of facial musculature0HACD1 CL E G H92009639OMIM:6199672
HP:0000301HP:0000301Abnormality of facial musculature0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathy2
HP:0000301HP:0000301Abnormality of facial musculature0HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndrome16
HP:0000301HP:0000301Abnormality of facial musculature0HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0000301HP:0000301Abnormality of facial musculature0HLA-DRB1 CL E G H31234948ORPHA:797Sarcoidosis2
HP:0000301HP:0000301Abnormality of facial musculature0HOXB1 CL E G H32115111OMIM:614744Facial paresis, hereditary congenital, 32
HP:0000301HP:0000301Abnormality of facial musculature0IRF2BPL CL E G H6420714282OMIM:618088Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0000301HP:0000301Abnormality of facial musculature0IRF6 CL E G H36646121ORPHA:141291Cleft lip and alveolus99
HP:0000301HP:0000301Abnormality of facial musculature0ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathy127
HP:0000301HP:0000301Abnormality of facial musculature0ITGB4 CL E G H36916158ORPHA:1114Aplasia cutis congenita124
HP:0000301HP:0000301Abnormality of facial musculature0JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0000301HP:0000301Abnormality of facial musculature0JAM2 CL E G H5849414686OMIM:618824BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0000301HP:0000301Abnormality of facial musculature0KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathy80
HP:0000301HP:0000301Abnormality of facial musculature0KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0000301HP:0000301Abnormality of facial musculature0KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel type4
HP:0000301HP:0000301Abnormality of facial musculature0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000301HP:0000301Abnormality of facial musculature0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0000301HP:0000301Abnormality of facial musculature0KIF1B CL E G H2309516636OMIM:118210Charcot-Marie-Tooth disease, axonal, type 2A1202
HP:0000301HP:0000301Abnormality of facial musculature0KLHL40 CL E G H13137730372OMIM:615348NEMALINE MYOPATHY 8; NEM828
HP:0000301HP:0000301Abnormality of facial musculature0KLHL40 CL E G H13137730372ORPHA:171430Severe congenital nemaline myopathy28
HP:0000301HP:0000301Abnormality of facial musculature0KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathy13
HP:0000301HP:0000301Abnormality of facial musculature0KLHL41 CL E G H1032416905ORPHA:171433Intermediate nemaline myopathy13
HP:0000301HP:0000301Abnormality of facial musculature0KLHL41 CL E G H1032416905ORPHA:171430Severe congenital nemaline myopathy13
HP:0000301HP:0000301Abnormality of facial musculature0KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathy13
HP:0000301HP:0000301Abnormality of facial musculature0KY CL E G H33985526576OMIM:617114MYOPATHY, MYOFIBRILLAR, 7; MFM73
HP:0000301HP:0000301Abnormality of facial musculature0LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophy411
HP:0000301HP:0000301Abnormality of facial musculature0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromes92
HP:0000301HP:0000301Abnormality of facial musculature0LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disability136
HP:0000301HP:0000301Abnormality of facial musculature0LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6136
HP:0000301HP:0000301Abnormality of facial musculature0LGI3 CL E G H20319018711OMIM:620007
HP:0000301HP:0000301Abnormality of facial musculature0LMOD3 CL E G H562036649OMIM:616165Nemaline myopathy 1011
HP:0000301HP:0000301Abnormality of facial musculature0LMOD3 CL E G H562036649ORPHA:171430Severe congenital nemaline myopathy11
HP:0000301HP:0000301Abnormality of facial musculature0LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathy11
HP:0000301HP:0000301Abnormality of facial musculature0LPIN1 CL E G H2317513345ORPHA:99845Genetic recurrent myoglobinuria95
HP:0000301HP:0000301Abnormality of facial musculature0LRIF1 CL E G H5579130299OMIM:619477FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0000301HP:0000301Abnormality of facial musculature0LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1
HP:0000301HP:0000301Abnormality of facial musculature0LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromes124
HP:0000301HP:0000301Abnormality of facial musculature0LRP4 CL E G H40386696ORPHA:3152Sclerosteosis124
HP:0000301HP:0000301Abnormality of facial musculature0LRP4 CL E G H40386696OMIM:614305Sclerosteosis 2124
HP:0000301HP:0000301Abnormality of facial musculature0LRP5 CL E G H40416697ORPHA:2790Endosteal hyperostosis, Worth type125
HP:0000301HP:0000301Abnormality of facial musculature0LRP5 CL E G H40416697ORPHA:3416Hyperostosis corticalis generalisata125
HP:0000301HP:0000301Abnormality of facial musculature0LRP5 CL E G H40416697ORPHA:178377Osteosclerosis-developmental delay-craniosynostosis syndrome125
HP:0000301HP:0000301Abnormality of facial musculature0LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson disease221
HP:0000301HP:0000301Abnormality of facial musculature0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile form136
HP:0000301HP:0000301Abnormality of facial musculature0MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathy2
HP:0000301HP:0000301Abnormality of facial musculature0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0000301HP:0000301Abnormality of facial musculature0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0000301HP:0000301Abnormality of facial musculature0MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset158
HP:0000301HP:0000301Abnormality of facial musculature0MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 1111
HP:0000301HP:0000301Abnormality of facial musculature0MGME1 CL E G H9266716205ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndrome11
HP:0000301HP:0000301Abnormality of facial musculature0MPZ CL E G H43597225OMIM:618184Neuropathy, congenital hypomyelinating, 2134
HP:0000301HP:0000301Abnormality of facial musculature0MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0000301HP:0000301Abnormality of facial musculature0MSX1 CL E G H44877391ORPHA:141291Cleft lip and alveolus12
HP:0000301HP:0000301Abnormality of facial musculature0MTM1 CL E G H45347448OMIM:310400Myopathy, centronuclear, X-linked185
HP:0000301HP:0000301Abnormality of facial musculature0MTM1 CL E G H45347448ORPHA:596X-linked centronuclear myopathy185
HP:0000301HP:0000301Abnormality of facial musculature0MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0000301HP:0000301Abnormality of facial musculature0MTMR2 CL E G H88987450OMIM:601382Charcot-Marie-Tooth disease, type 4B188
HP:0000301HP:0000301Abnormality of facial musculature0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7
HP:0000301HP:0000301Abnormality of facial musculature0MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7
HP:0000301HP:0000301Abnormality of facial musculature0MUSK CL E G H45937525OMIM:616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency72
HP:0000301HP:0000301Abnormality of facial musculature0MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromes72
HP:0000301HP:0000301Abnormality of facial musculature0MYH7 CL E G H46257577ORPHA:324604Classic multiminicore myopathy1269
HP:0000301HP:0000301Abnormality of facial musculature0MYH7 CL E G H46257577ORPHA:59135Laing early-onset distal myopathy1269
HP:0000301HP:0000301Abnormality of facial musculature0MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophy1269
HP:0000301HP:0000301Abnormality of facial musculature0MYH7 CL E G H46257577OMIM:255310Myopathy, congenital, with fiber-type disproportion1269
HP:0000301HP:0000301Abnormality of facial musculature0MYH7 CL E G H46257577OMIM:160500Myopathy, distal, 11269
HP:0000301HP:0000301Abnormality of facial musculature0MYH7 CL E G H46257577OMIM:181430Scapuloperoneal myopathy, myh7-related1269
HP:0000301HP:0000301Abnormality of facial musculature0MYL1 CL E G H46327582OMIM:618414Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0000301HP:0000301Abnormality of facial musculature0MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathy131
HP:0000301HP:0000301Abnormality of facial musculature0MYL2 CL E G H46337583OMIM:619424MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12131
HP:0000301HP:0000301Abnormality of facial musculature0MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndrome5
HP:0000301HP:0000301Abnormality of facial musculature0MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome5
HP:0000301HP:0000301Abnormality of facial musculature0MYMX CL E G H10192972652391OMIM:619941
HP:0000301HP:0000301Abnormality of facial musculature0MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndrome
HP:0000301HP:0000301Abnormality of facial musculature0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromes
HP:0000301HP:0000301Abnormality of facial musculature0MYOT CL E G H949912399ORPHA:266Autosomal dominant limb-girdle muscular dystrophy type 1A75
HP:0000301HP:0000301Abnormality of facial musculature0MYPN CL E G H8466523246ORPHA:171881Cap myopathy217
HP:0000301HP:0000301Abnormality of facial musculature0MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathy217
HP:0000301HP:0000301Abnormality of facial musculature0MYPN CL E G H8466523246OMIM:617336Nemaline myopathy 11, autosomal recessive217
HP:0000301HP:0000301Abnormality of facial musculature0NARS2 CL E G H7973126274OMIM:616239Combined oxidative phosphorylation deficiency 2434
HP:0000301HP:0000301Abnormality of facial musculature0NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathy745
HP:0000301HP:0000301Abnormality of facial musculature0NEB CL E G H47037720ORPHA:399103Distal nebulin myopathy745
HP:0000301HP:0000301Abnormality of facial musculature0NEB CL E G H47037720ORPHA:171433Intermediate nemaline myopathy745
HP:0000301HP:0000301Abnormality of facial musculature0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0000301HP:0000301Abnormality of facial musculature0NEB CL E G H47037720ORPHA:171430Severe congenital nemaline myopathy745
HP:0000301HP:0000301Abnormality of facial musculature0NEB CL E G H47037720ORPHA:171436Typical nemaline myopathy745
HP:0000301HP:0000301Abnormality of facial musculature0NECTIN1 CL E G H58189706ORPHA:141291Cleft lip and alveolus4
HP:0000301HP:0000301Abnormality of facial musculature0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1F118
HP:0000301HP:0000301Abnormality of facial musculature0NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E118
HP:0000301HP:0000301Abnormality of facial musculature0NF2 CL E G H47717773ORPHA:2495Meningioma220
HP:0000301HP:0000301Abnormality of facial musculature0NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2220
HP:0000301HP:0000301Abnormality of facial musculature0NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 134
HP:0000301HP:0000301Abnormality of facial musculature0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndrome32
HP:0000301HP:0000301Abnormality of facial musculature0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0000301HP:0000301Abnormality of facial musculature0NOD2 CL E G H641275331ORPHA:90340Blau syndrome187
HP:0000301HP:0000301Abnormality of facial musculature0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040281 - Very frequent
HP:0000301HP:0000301Abnormality of facial musculature0NOTCH2NLC CL E G H10099671753924OMIM:619473OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0000301HP:0000301Abnormality of facial musculature0NUTM2B-AS1 CL E G H10106069151204OMIM:618637OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0000301HP:0000301Abnormality of facial musculature0OGDHL CL E G H5575325590OMIM:619701YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN3
HP:0000301HP:0000301Abnormality of facial musculature0OPA1 CL E G H49768140ORPHA:98673Autosomal dominant optic atrophy, classic form214
HP:0000301HP:0000301Abnormality of facial musculature0OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 573
HP:0000301HP:0000301Abnormality of facial musculature0PABPN1 CL E G H81068565OMIM:164300Oculopharyngeal muscular dystrophy10
HP:0000301HP:0000301Abnormality of facial musculature0PAX7 CL E G H50818621OMIM:618578MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000301HP:0000301Abnormality of facial musculature0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome
HP:0000301HP:0000301Abnormality of facial musculature0PDGFB CL E G H51558800ORPHA:2495Meningioma9
HP:0000301HP:0000301Abnormality of facial musculature0PEX1 CL E G H51898850ORPHA:772Infantile Refsum disease169
HP:0000301HP:0000301Abnormality of facial musculature0PEX10 CL E G H51928851ORPHA:772Infantile Refsum disease75
HP:0000301HP:0000301Abnormality of facial musculature0PEX11B CL E G H87998853ORPHA:772Infantile Refsum disease4
HP:0000301HP:0000301Abnormality of facial musculature0PEX12 CL E G H51938854ORPHA:772Infantile Refsum disease65
HP:0000301HP:0000301Abnormality of facial musculature0PEX13 CL E G H51948855ORPHA:772Infantile Refsum disease66
HP:0000301HP:0000301Abnormality of facial musculature0PEX14 CL E G H51958856ORPHA:772Infantile Refsum disease46
HP:0000301HP:0000301Abnormality of facial musculature0PEX16 CL E G H94098857ORPHA:772Infantile Refsum disease59
HP:0000301HP:0000301Abnormality of facial musculature0PEX19 CL E G H58249713ORPHA:772Infantile Refsum disease62
HP:0000301HP:0000301Abnormality of facial musculature0PEX2 CL E G H58289717ORPHA:772Infantile Refsum disease82
HP:0000301HP:0000301Abnormality of facial musculature0PEX26 CL E G H5567022965ORPHA:772Infantile Refsum disease106
HP:0000301HP:0000301Abnormality of facial musculature0PEX3 CL E G H85048858ORPHA:772Infantile Refsum disease47
HP:0000301HP:0000301Abnormality of facial musculature0PEX5 CL E G H58309719ORPHA:772Infantile Refsum disease99
HP:0000301HP:0000301Abnormality of facial musculature0PEX6 CL E G H51908859ORPHA:772Infantile Refsum disease98
HP:0000301HP:0000301Abnormality of facial musculature0PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyria11
HP:0000301HP:0000301Abnormality of facial musculature0PIK3CA CL E G H52908975ORPHA:2495Meningioma162
HP:0000301HP:0000301Abnormality of facial musculature0PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonism133
HP:0000301HP:0000301Abnormality of facial musculature0PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0000301HP:0000301Abnormality of facial musculature0PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies3
HP:0000301HP:0000301Abnormality of facial musculature0PLEC CL E G H53399069ORPHA:1114Aplasia cutis congenita759
HP:0000301HP:0000301Abnormality of facial musculature0PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17759
HP:0000301HP:0000301Abnormality of facial musculature0PLXND1 CL E G H231299107ORPHA:570Moebius syndrome
HP:0000301HP:0000301Abnormality of facial musculature0PNPT1 CL E G H8717823166OMIM:608703Spinocerebellar ataxia 2560
HP:0000301HP:0000301Abnormality of facial musculature0PNPT1 CL E G H8717823166ORPHA:101111Spinocerebellar ataxia type 2560
HP:0000301HP:0000301Abnormality of facial musculature0PODXL CL E G H54209171ORPHA:391411Atypical juvenile parkinsonism6
HP:0000301HP:0000301Abnormality of facial musculature0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndrome35
HP:0000301HP:0000301Abnormality of facial musculature0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0000301HP:0000301Abnormality of facial musculature0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegia464
HP:0000301HP:0000301Abnormality of facial musculature0POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegia464
HP:0000301HP:0000301Abnormality of facial musculature0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1464
HP:0000301HP:0000301Abnormality of facial musculature0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0000301HP:0000301Abnormality of facial musculature0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0000301HP:0000301Abnormality of facial musculature0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegia45
HP:0000301HP:0000301Abnormality of facial musculature0POLG2 CL E G H112329180OMIM:610131Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 445
HP:0000301HP:0000301Abnormality of facial musculature0POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disability213
HP:0000301HP:0000301Abnormality of facial musculature0POMT1 CL E G H105859202ORPHA:370980Congenital muscular dystrophy without intellectual disability213
HP:0000301HP:0000301Abnormality of facial musculature0POMT1 CL E G H105859202OMIM:613155MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1213
HP:0000301HP:0000301Abnormality of facial musculature0POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disability221
HP:0000301HP:0000301Abnormality of facial musculature0POMT2 CL E G H2995419743OMIM:613156MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2221
HP:0000301HP:0000301Abnormality of facial musculature0POU3F3 CL E G H54559216OMIM:618604SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0000301HP:0000301Abnormality of facial musculature0PPP2R1A CL E G H55189302OMIM:616362Mental retardation, autosomal dominant 3613
HP:0000301HP:0000301Abnormality of facial musculature0PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome13
HP:0000301HP:0000301Abnormality of facial musculature0PPP2R2B CL E G H55219305OMIM:604326Spinocerebellar ataxia 125
HP:0000301HP:0000301Abnormality of facial musculature0PPP2R5D CL E G H55289312OMIM:616355Mental retardation, autosomal dominant 3510
HP:0000301HP:0000301Abnormality of facial musculature0PRDX3 CL E G H109359354OMIM:619862
HP:0000301HP:0000301Abnormality of facial musculature0PRKCG CL E G H55829402OMIM:605361Spinocerebellar ataxia 1483
HP:0000301HP:0000301Abnormality of facial musculature0PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraine94
HP:0000301HP:0000301Abnormality of facial musculature0PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfism6
HP:0000301HP:0000301Abnormality of facial musculature0PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic disease6
HP:0000301HP:0000301Abnormality of facial musculature0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome19
HP:0000301HP:0000301Abnormality of facial musculature0PURA CL E G H58139701ORPHA:438216PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation53
HP:0000301HP:0000301Abnormality of facial musculature0RAB11B CL E G H92309761OMIM:617807Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0000301HP:0000301Abnormality of facial musculature0RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromes73
HP:0000301HP:0000301Abnormality of facial musculature0REV3L CL E G H59809968ORPHA:570Moebius syndrome3
HP:0000301HP:0000301Abnormality of facial musculature0RILPL1 CL E G H35311626814OMIM:619790OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0000301HP:0000301Abnormality of facial musculature0RNASEH1 CL E G H24624318466ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy3
HP:0000301HP:0000301Abnormality of facial musculature0RRM2B CL E G H5048417296ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy125
HP:0000301HP:0000301Abnormality of facial musculature0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegia125
HP:0000301HP:0000301Abnormality of facial musculature0RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathy1200
HP:0000301HP:0000301Abnormality of facial musculature0RYR1 CL E G H626110483OMIM:117000Central core disease1200
HP:0000301HP:0000301Abnormality of facial musculature0RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegia1200
HP:0000301HP:0000301Abnormality of facial musculature0RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0000301HP:0000301Abnormality of facial musculature0RYR1 CL E G H626110483ORPHA:423Malignant hyperthermia of anesthesia1200
HP:0000301HP:0000301Abnormality of facial musculature0RYR1 CL E G H626110483OMIM:255320Minicore myopathy with external ophthalmoplegia1200
HP:0000301HP:0000301Abnormality of facial musculature0RYR1 CL E G H626110483ORPHA:178145Moderate multiminicore disease with hand involvement1200
HP:0000301HP:0000301Abnormality of facial musculature0RYR1 CL E G H626110483OMIM:255310Myopathy, congenital, with fiber-type disproportion1200
HP:0000301HP:0000301Abnormality of facial musculature0SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome86
HP:0000301HP:0000301Abnormality of facial musculature0SATB2 CL E G H2331421637OMIM:612313Glass syndrome34
HP:0000301HP:0000301Abnormality of facial musculature0SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0000301HP:0000301Abnormality of facial musculature0SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraine1053
HP:0000301HP:0000301Abnormality of facial musculature0SCN4A CL E G H632910591ORPHA:99734Myotonia fluctuans263
HP:0000301HP:0000301Abnormality of facial musculature0SCN4A CL E G H632910591ORPHA:684Paramyotonia congenita of Von Eulenburg263
HP:0000301HP:0000301Abnormality of facial musculature0SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromes263
HP:0000301HP:0000301Abnormality of facial musculature0SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect40
HP:0000301HP:0000301Abnormality of facial musculature0SELENON CL E G H5719015999ORPHA:324604Classic multiminicore myopathy144
HP:0000301HP:0000301Abnormality of facial musculature0SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathy144
HP:0000301HP:0000301Abnormality of facial musculature0SELENON CL E G H5719015999OMIM:255310Myopathy, congenital, with fiber-type disproportion144
HP:0000301HP:0000301Abnormality of facial musculature0SELENON CL E G H5719015999OMIM:602771Rigid spine muscular dystrophy 1144
HP:0000301HP:0000301Abnormality of facial musculature0SEMA3E CL E G H972310727ORPHA:138CHARGE syndrome16
HP:0000301HP:0000301Abnormality of facial musculature0SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 581
HP:0000301HP:0000301Abnormality of facial musculature0SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia2
HP:0000301HP:0000301Abnormality of facial musculature0SGCD CL E G H644410807ORPHA:219Delta-sarcoglycan-related limb-girdle muscular dystrophy R6223
HP:0000301HP:0000301Abnormality of facial musculature0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4C493
HP:0000301HP:0000301Abnormality of facial musculature0SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C493
HP:0000301HP:0000301Abnormality of facial musculature0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000301HP:0000301Abnormality of facial musculature0SIX1 CL E G H649510887ORPHA:107BOR syndrome50
HP:0000301HP:0000301Abnormality of facial musculature0SIX1 CL E G H649510887ORPHA:52429Branchiootic syndrome50
HP:0000301HP:0000301Abnormality of facial musculature0SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 150
HP:0000301HP:0000301Abnormality of facial musculature0SIX5 CL E G H14791210891ORPHA:107BOR syndrome10
HP:0000301HP:0000301Abnormality of facial musculature0SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy163
HP:0000301HP:0000301Abnormality of facial musculature0SLC18A2 CL E G H657110935ORPHA:352649Brain dopamine-serotonin vesicular transport disease2
HP:0000301HP:0000301Abnormality of facial musculature0SLC18A2 CL E G H657110935OMIM:618049Parkinsonism-Dystonia, infantile, 22
HP:0000301HP:0000301Abnormality of facial musculature0SLC18A3 CL E G H657210936OMIM:617239Myasthenic syndrome, congenital, 21, presynaptic2
HP:0000301HP:0000301Abnormality of facial musculature0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0000301HP:0000301Abnormality of facial musculature0SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0000301HP:0000301Abnormality of facial musculature0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhood63
HP:0000301HP:0000301Abnormality of facial musculature0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromes28
HP:0000301HP:0000301Abnormality of facial musculature0SLC25A21 CL E G H8987414411OMIM:618811MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0000301HP:0000301Abnormality of facial musculature0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegia68
HP:0000301HP:0000301Abnormality of facial musculature0SLC25A4 CL E G H29110990OMIM:609283Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 268
HP:0000301HP:0000301Abnormality of facial musculature0SLC25A42 CL E G H28443928380OMIM:618416Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression1
HP:0000301HP:0000301Abnormality of facial musculature0SLC30A10 CL E G H5553225355ORPHA:309854Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome42
HP:0000301HP:0000301Abnormality of facial musculature0SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1
HP:0000301HP:0000301Abnormality of facial musculature0SLC39A14 CL E G H2351620858ORPHA:521406Dystonia-parkinsonism-hypermanganesemia syndrome5
HP:0000301HP:0000301Abnormality of facial musculature0SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 25
HP:0000301HP:0000301Abnormality of facial musculature0SLC39A14 CL E G H2351620858OMIM:144755Hyperostosis cranialis interna5
HP:0000301HP:0000301Abnormality of facial musculature0SLC52A2 CL E G H7958130224OMIM:614707Brown-Vialetto-Van laere syndrome 247
HP:0000301HP:0000301Abnormality of facial musculature0SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 151
HP:0000301HP:0000301Abnormality of facial musculature0SLC52A3 CL E G H11327816187OMIM:211500Bulbar palsy, progressive, of childhood51
HP:0000301HP:0000301Abnormality of facial musculature0SLC5A7 CL E G H6048214025OMIM:617143Myasthenic syndrome, congenital, 20, presynaptic9
HP:0000301HP:0000301Abnormality of facial musculature0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromes9
HP:0000301HP:0000301Abnormality of facial musculature0SLC6A3 CL E G H653111049ORPHA:238455Infantile dystonia-parkinsonism13
HP:0000301HP:0000301Abnormality of facial musculature0SLC6A3 CL E G H653111049OMIM:613135Parkinsonism-Dystonia, infantile, 113
HP:0000301HP:0000301Abnormality of facial musculature0SMARCB1 CL E G H659811103ORPHA:2495Meningioma87
HP:0000301HP:0000301Abnormality of facial musculature0SMARCE1 CL E G H660511109ORPHA:2495Meningioma47
HP:0000301HP:0000301Abnormality of facial musculature0SMCHD1 CL E G H2334729090OMIM:158901FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2174
HP:0000301HP:0000301Abnormality of facial musculature0SMO CL E G H660811119ORPHA:2495Meningioma22
HP:0000301HP:0000301Abnormality of facial musculature0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0000301HP:0000301Abnormality of facial musculature0SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson disease65
HP:0000301HP:0000301Abnormality of facial musculature0SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndrome65
HP:0000301HP:0000301Abnormality of facial musculature0SNX10 CL E G H2988714974OMIM:615085Osteopetrosis, autosomal recessive 82
HP:0000301HP:0000301Abnormality of facial musculature0SOST CL E G H5096413771OMIM:122860Craniodiaphyseal dysplasia, autosomal dominant26
HP:0000301HP:0000301Abnormality of facial musculature0SOST CL E G H5096413771ORPHA:3416Hyperostosis corticalis generalisata26
HP:0000301HP:0000301Abnormality of facial musculature0SOST CL E G H5096413771ORPHA:3152Sclerosteosis26
HP:0000301HP:0000301Abnormality of facial musculature0SOST CL E G H5096413771OMIM:269500Sclerosteosis 126
HP:0000301HP:0000301Abnormality of facial musculature0SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathy20
HP:0000301HP:0000301Abnormality of facial musculature0SPEG CL E G H1029016901OMIM:615959Myopathy, centronuclear, 520
HP:0000301HP:0000301Abnormality of facial musculature0SPR CL E G H669711257ORPHA:70594Dopa-responsive dystonia due to sepiapterin reductase deficiency28
HP:0000301HP:0000301Abnormality of facial musculature0SPTBN2 CL E G H671211276OMIM:600224Spinocerebellar ataxia 5126
HP:0000301HP:0000301Abnormality of facial musculature0SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0000301HP:0000301Abnormality of facial musculature0SQSTM1 CL E G H887811280OMIM:617158MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV62
HP:0000301HP:0000301Abnormality of facial musculature0SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyria50
HP:0000301HP:0000301Abnormality of facial musculature0STAG2 CL E G H1073511355ORPHA:521258Xq25 microduplication syndrome1
HP:0000301HP:0000301Abnormality of facial musculature0STRADA CL E G H9233530172OMIM:611087Polyhydramnios, megalencephaly, and symptomatic epilepsy6
HP:0000301HP:0000301Abnormality of facial musculature0STRADA CL E G H9233530172ORPHA:500533Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome6
HP:0000301HP:0000301Abnormality of facial musculature0SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)66
HP:0000301HP:0000301Abnormality of facial musculature0SUFU CL E G H5168416466ORPHA:2495Meningioma124
HP:0000301HP:0000301Abnormality of facial musculature0SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000301HP:0000301Abnormality of facial musculature0SURF1 CL E G H683411474OMIM:220110Mitochondrial complex IV deficiency73
HP:0000301HP:0000301Abnormality of facial musculature0SYNE1 CL E G H2334517089OMIM:618484Arthrogryposis multiplex congenita, Myogenic type1129
HP:0000301HP:0000301Abnormality of facial musculature0SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0000301HP:0000301Abnormality of facial musculature0SYNJ1 CL E G H886711503ORPHA:391411Atypical juvenile parkinsonism9
HP:0000301HP:0000301Abnormality of facial musculature0SYT2 CL E G H12783311510OMIM:619461MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B4
HP:0000301HP:0000301Abnormality of facial musculature0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromes4
HP:0000301HP:0000301Abnormality of facial musculature0TCIRG1 CL E G H1031211647OMIM:259700Osteopetrosis, autosomal recessive 182
HP:0000301HP:0000301Abnormality of facial musculature0TECPR2 CL E G H989519957ORPHA:320385Hereditary sensory and autonomic neuropathy due to TECPR2 mutation39
HP:0000301HP:0000301Abnormality of facial musculature0TECPR2 CL E G H989519957OMIM:615031Spastic paraplegia 49, autosomal recessive39
HP:0000301HP:0000301Abnormality of facial musculature0TERT CL E G H701511730ORPHA:2495Meningioma238
HP:0000301HP:0000301Abnormality of facial musculature0TET3 CL E G H20042428313OMIM:618798BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000301HP:0000301Abnormality of facial musculature0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0000301HP:0000301Abnormality of facial musculature0TGFB1 CL E G H704011766ORPHA:1328Camurati-Engelmann disease13
HP:0000301HP:0000301Abnormality of facial musculature0TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegia103
HP:0000301HP:0000301Abnormality of facial musculature0TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type)103
HP:0000301HP:0000301Abnormality of facial musculature0TK2 CL E G H708411831ORPHA:254875Mitochondrial DNA depletion syndrome, myopathic form103
HP:0000301HP:0000301Abnormality of facial musculature0TK2 CL E G H708411831OMIM:617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3103
HP:0000301HP:0000301Abnormality of facial musculature0TNFSF11 CL E G H860011926OMIM:259710Osteopetrosis, autosomal recessive 244
HP:0000301HP:0000301Abnormality of facial musculature0TOR1A CL E G H18613098OMIM:128100Dystonia 1, torsion, autosomal dominant47
HP:0000301HP:0000301Abnormality of facial musculature0TP63 CL E G H862615979ORPHA:141291Cleft lip and alveolus140
HP:0000301HP:0000301Abnormality of facial musculature0TPM2 CL E G H716912011ORPHA:171881Cap myopathy54
HP:0000301HP:0000301Abnormality of facial musculature0TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathy54
HP:0000301HP:0000301Abnormality of facial musculature0TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathy54
HP:0000301HP:0000301Abnormality of facial musculature0TPM2 CL E G H716912011OMIM:255310Myopathy, congenital, with fiber-type disproportion54
HP:0000301HP:0000301Abnormality of facial musculature0TPM2 CL E G H716912011OMIM:609285Nemaline myopathy 454
HP:0000301HP:0000301Abnormality of facial musculature0TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathy54
HP:0000301HP:0000301Abnormality of facial musculature0TPM3 CL E G H717012012ORPHA:171881Cap myopathy108
HP:0000301HP:0000301Abnormality of facial musculature0TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathy108
HP:0000301HP:0000301Abnormality of facial musculature0TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathy108
HP:0000301HP:0000301Abnormality of facial musculature0TPM3 CL E G H717012012ORPHA:171433Intermediate nemaline myopathy108
HP:0000301HP:0000301Abnormality of facial musculature0TPM3 CL E G H717012012OMIM:255310Myopathy, congenital, with fiber-type disproportion108
HP:0000301HP:0000301Abnormality of facial musculature0TPM3 CL E G H717012012OMIM:609284Nemaline myopathy 1108
HP:0000301HP:0000301Abnormality of facial musculature0TRAF7 CL E G H8423120456ORPHA:2495Meningioma
HP:0000301HP:0000301Abnormality of facial musculature0TREX1 CL E G H1127712269ORPHA:247691Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations56
HP:0000301HP:0000301Abnormality of facial musculature0TRIM32 CL E G H2295416380OMIM:254110Muscular dystrophy, limb-girdle, type 2H108
HP:0000301HP:0000301Abnormality of facial musculature0TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitus
HP:0000301HP:0000301Abnormality of facial musculature0TRNN CL E G H45707493OMIM:220110Mitochondrial complex IV deficiency
HP:0000301HP:0000301Abnormality of facial musculature0TRNS1 CL E G H45747497OMIM:220110Mitochondrial complex IV deficiency
HP:0000301HP:0000301Abnormality of facial musculature0TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy214
HP:0000301HP:0000301Abnormality of facial musculature0TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathy7128
HP:0000301HP:0000301Abnormality of facial musculature0TTN CL E G H727312403ORPHA:324604Classic multiminicore myopathy7128
HP:0000301HP:0000301Abnormality of facial musculature0TTN CL E G H727312403OMIM:611705Salih myopathy7128
HP:0000301HP:0000301Abnormality of facial musculature0TUBB3 CL E G H1038120772OMIM:600638Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement64
HP:0000301HP:0000301Abnormality of facial musculature0TUBB6 CL E G H8461720776OMIM:617732Facial palsy, congenital, with ptosis and velopharyngeal dysfunction
HP:0000301HP:0000301Abnormality of facial musculature0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegia113
HP:0000301HP:0000301Abnormality of facial musculature0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0000301HP:0000301Abnormality of facial musculature0TXNL4A CL E G H1090730551OMIM:608572Burn-Mckeown syndrome19
HP:0000301HP:0000301Abnormality of facial musculature0UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophy35
HP:0000301HP:0000301Abnormality of facial musculature0UBA1 CL E G H731712469OMIM:301830Spinal muscular atrophy, X-linked 235
HP:0000301HP:0000301Abnormality of facial musculature0UBA2 CL E G H1005430661ORPHA:1114Aplasia cutis congenita
HP:0000301HP:0000301Abnormality of facial musculature0UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 223
HP:0000301HP:0000301Abnormality of facial musculature0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0000301HP:0000301Abnormality of facial musculature0VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutation63
HP:0000301HP:0000301Abnormality of facial musculature0VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 163
HP:0000301HP:0000301Abnormality of facial musculature0VPS13B CL E G H1576802183OMIM:216550Cohen syndrome546
HP:0000301HP:0000301Abnormality of facial musculature0VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson disease37
HP:0000301HP:0000301Abnormality of facial musculature0XRCC2 CL E G H751612829OMIM:617247FANCONI ANEMIA, COMPLEMENTATION GROUP U125
HP:0000301HP:0000301Abnormality of facial musculature0XYLT2 CL E G H6413215517ORPHA:85194Spondylo-ocular syndrome5
HP:0000301HP:0000301Abnormality of facial musculature0YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000301HP:0000301Abnormality of facial musculature0YME1L1 CL E G H1073012843OMIM:617302Optic atrophy 112
HP:0000301HP:0000301Abnormality of facial musculature0YY1 CL E G H752812856OMIM:617557Gabriele-De vries syndrome7
HP:0000301HP:0000301Abnormality of facial musculature0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndrome7
HP:0000301HP:0000301Abnormality of facial musculature0ZBTB11 CL E G H2710716740OMIM:618383Intellectual developmental disorder, autosomal recessive 69
HP:0000301HP:0000301Abnormality of facial musculature0ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome19
HP:0000301HP:0000301Abnormality of facial musculature0ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0000301HP:0000301Abnormality of facial musculature0ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0000301HP:0000301Abnormality of facial musculature0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000301HP:0430018Abnormality of nasal musculature1 CL E G H
HP:0000301HP:3000013Abnormal platysma muscle morphology1 CL E G H
HP:0000301HP:3000008Abnormality of mylohyoid muscle1 CL E G H
HP:0000301HP:0030319Weakness of facial musculature1ABCA1 CL E G H1929ORPHA:31150Tangier disease191
HP:0000301HP:0030319Weakness of facial musculature1ABCA1 CL E G H1929OMIM:205400Tangier disease191
HP:0000301HP:0000317Facial myokymia1ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophyHP:0040283 - Occasional135
HP:0000301HP:0030319Weakness of facial musculature1ACADS CL E G H3590OMIM:201470Acyl-Coa dehydrogenase, short-chain, deficiency of90
HP:0000301HP:0030319Weakness of facial musculature1ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathy96
HP:0000301HP:0030319Weakness of facial musculature1ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent96
HP:0000301HP:0030319Weakness of facial musculature1ACTA1 CL E G H58129ORPHA:171433Intermediate nemaline myopathy96
HP:0000301HP:0030319Weakness of facial musculature1ACTA1 CL E G H58129OMIM:255310Myopathy, congenital, with fiber-type disproportion96
HP:0000301HP:0030319Weakness of facial musculature1ACTA1 CL E G H58129OMIM:616852Myopathy, scapulohumeroperoneal96
HP:0000301HP:0030319Weakness of facial musculature1ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 396
HP:0000301HP:0030319Weakness of facial musculature1ACTA1 CL E G H58129ORPHA:171430Severe congenital nemaline myopathy96
HP:0000301HP:0030319Weakness of facial musculature1ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathy96
HP:0000301HP:0030319Weakness of facial musculature1ACTA1 CL E G H58129ORPHA:97240Zebra body myopathy96
HP:0000301HP:0030319Weakness of facial musculature1ACTN2 CL E G H88164OMIM:618654MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ307
HP:0000301HP:0030319Weakness of facial musculature1ADA2 CL E G H518161839OMIM:182410Sneddon syndrome22
HP:0000301HP:0000317Facial myokymia1ADCY5 CL E G H111236OMIM:606703Dyskinesia, familial, with facial myokymia.25
HP:0000301HP:0000317Facial myokymia1ADCY5 CL E G H111236ORPHA:324588Familial dyskinesia and facial myokymiaHP:0040281 - Very frequent25
HP:0000301HP:0030319Weakness of facial musculature1ADCY6 CL E G H112237OMIM:616287Lethal congenital contracture syndrome 82
HP:0000301HP:0045037Abnormality of jaw muscles1ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyria88
HP:0000301HP:0030319Weakness of facial musculature1ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040282 - Frequent88
HP:0000301HP:0030319Weakness of facial musculature1ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathyHP:0040282 - Frequent
HP:0000301HP:0030319Weakness of facial musculature1ADSS1 CL E G H12262220093OMIM:617030Myopathy, distal, 5
HP:0000301HP:0030319Weakness of facial musculature1AGRN CL E G H375790329OMIM:615120Myasthenic syndrome, congenital, 8127
HP:0000301HP:0030319Weakness of facial musculature1AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromes127
HP:0000301HP:0045037Abnormality of jaw muscles1AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromes127
HP:0000301HP:0030319Weakness of facial musculature1AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromes127
HP:0000301HP:0030319Weakness of facial musculature1AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromes1
HP:0000301HP:0045037Abnormality of jaw muscles1AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromes1
HP:0000301HP:0030319Weakness of facial musculature1AKT1 CL E G H207391ORPHA:2495Meningioma54
HP:0000301HP:0030319Weakness of facial musculature1ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defect12
HP:0000301HP:0030319Weakness of facial musculature1ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defect46
HP:0000301HP:0002491Spasticity of facial muscles1ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile.114
HP:0000301HP:0002491Spasticity of facial muscles1ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile.114
HP:0000301HP:0030319Weakness of facial musculature1AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis34
HP:0000301HP:0030319Weakness of facial musculature1AMER1 CL E G H13928526837ORPHA:2780Osteopathia striata-cranial sclerosis syndrome34
HP:0000301HP:0000297Facial hypotonia1AMPD2 CL E G H271469OMIM:615809Pontocerebellar hypoplasia, type 9.21
HP:0000301HP:0030319Weakness of facial musculature1ANKH CL E G H5617215492ORPHA:1522Craniometaphyseal dysplasia164
HP:0000301HP:0030319Weakness of facial musculature1ANKH CL E G H5617215492OMIM:123000Craniometaphyseal dysplasia, autosomal dominant164
HP:0000301HP:0030319Weakness of facial musculature1ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12304
HP:0000301HP:0030319Weakness of facial musculature1ANO5 CL E G H20385927337OMIM:611307Muscular dystrophy, limb-girdle, type 2L304
HP:0000301HP:0030319Weakness of facial musculature1ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0000301HP:0000297Facial hypotonia1AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent49
HP:0000301HP:0000297Facial hypotonia1AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent48
HP:0000301HP:0000297Facial hypotonia1AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive.48
HP:0000301HP:0000297Facial hypotonia1AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent41
HP:0000301HP:0000297Facial hypotonia1AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent18
HP:0000301HP:0000297Facial hypotonia1AP4S1 CL E G H11154575OMIM:614067Spastic paraplegia 52, autosomal recessive.18
HP:0000301HP:0030319Weakness of facial musculature1ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy78
HP:0000301HP:0000297Facial hypotonia1ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040282 - Frequent145
HP:0000301HP:0000317Facial myokymia1ATP13A2 CL E G H2340030213ORPHA:513436Autosomal recessive spastic paraplegia type 78HP:0040284 - Very rare100
HP:0000301HP:0000338Hypomimic face1ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040282 - Frequent100
HP:0000301HP:0000297Facial hypotonia1ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional239
HP:0000301HP:0030319Weakness of facial musculature1ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraine239
HP:0000301HP:0000297Facial hypotonia1ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional150
HP:0000301HP:0000338Hypomimic face1ATP1A3 CL E G H478801OMIM:128235Dystonia 12.150
HP:0000301HP:0000338Hypomimic face1ATP1A3 CL E G H478801ORPHA:71517Rapid-onset dystonia-parkinsonismHP:0040282 - Frequent150
HP:0000301HP:0000338Hypomimic face1ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0000301HP:0000338Hypomimic face1ATP6AP2 CL E G H1015918305OMIM:300911Parkinsonism with spasticity, X-linked36
HP:0000301HP:0000338Hypomimic face1ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera typeHP:0040283 - Occasional36
HP:0000301HP:0045037Abnormality of jaw muscles1ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 119
HP:0000301HP:0030319Weakness of facial musculature1BAG3 CL E G H9531939OMIM:612954Myopathy, myofibrillar, 6204
HP:0000301HP:0030319Weakness of facial musculature1BAP1 CL E G H8314950ORPHA:2495Meningioma184
HP:0000301HP:0030319Weakness of facial musculature1BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0000301HP:0030319Weakness of facial musculature1BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathy99
HP:0000301HP:0030319Weakness of facial musculature1BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 299
HP:0000301HP:0030319Weakness of facial musculature1BMS1 CL E G H979023505ORPHA:1114Aplasia cutis congenita1
HP:0000301HP:0030319Weakness of facial musculature1BTNL2 CL E G H562441142ORPHA:797Sarcoidosis1
HP:0000301HP:0030319Weakness of facial musculature1BTNL2 CL E G H562441142OMIM:612387Sarcoidosis, susceptibility to, 21
HP:0000301HP:0000297Facial hypotonia1CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional449
HP:0000301HP:0030319Weakness of facial musculature1CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraine449
HP:0000301HP:0045037Abnormality of jaw muscles1CACNA1S CL E G H7791397ORPHA:423Malignant hyperthermia of anesthesia247
HP:0000301HP:0030319Weakness of facial musculature1CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0000301HP:0000297Facial hypotonia1CAMK2G CL E G H8181463OMIM:618522Intellectual developmental disorder 59.1
HP:0000301HP:0030319Weakness of facial musculature1CAPN3 CL E G H8251480OMIM:253600Muscular dystrophy, limb-girdle, type 2A323
HP:0000301HP:0000338Hypomimic face1CC2D1A CL E G H5486230237OMIM:608443Mental retardation, autosomal recessive 3.57
HP:0000301HP:0030319Weakness of facial musculature1CFL2 CL E G H10731875OMIM:610687Nemaline myopathy 735
HP:0000301HP:0030319Weakness of facial musculature1CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathy35
HP:0000301HP:0000297Facial hypotonia1CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 40.16
HP:0000301HP:0030319Weakness of facial musculature1CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromes65
HP:0000301HP:0030319Weakness of facial musculature1CHCHD10 CL E G H40091615559ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intoleranceHP:0040282 - Frequent11
HP:0000301HP:0030319Weakness of facial musculature1CHCHD10 CL E G H40091615559OMIM:616209Myopathy, isolated mitochondrial, autosomal dominant11
HP:0000301HP:0030319Weakness of facial musculature1CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0000301HP:0030319Weakness of facial musculature1CHD7 CL E G H5563620626ORPHA:138CHARGE syndrome515
HP:0000301HP:0030319Weakness of facial musculature1CHKB CL E G H11201938OMIM:602541Muscular dystrophy, congenital, Megaconial type53
HP:0000301HP:0030319Weakness of facial musculature1CHRNA1 CL E G H11341955OMIM:608930Myasthenic syndrome, congenital, 1B, fast-channel74
HP:0000301HP:0045037Abnormality of jaw muscles1CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromes74
HP:0000301HP:0030319Weakness of facial musculature1CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromes74
HP:0000301HP:0030319Weakness of facial musculature1CHRNB1 CL E G H11401961OMIM:616313Myasthenic syndrome, congenital, 2A, slow-channel53
HP:0000301HP:0030319Weakness of facial musculature1CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromes53
HP:0000301HP:0045037Abnormality of jaw muscles1CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromes53
HP:0000301HP:0030319Weakness of facial musculature1CHRND CL E G H11441965OMIM:616322Myasthenic syndrome, congenital, 3B, fast-channel88
HP:0000301HP:0030319Weakness of facial musculature1CHRND CL E G H11441965OMIM:616323Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency88
HP:0000301HP:0030319Weakness of facial musculature1CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromes88
HP:0000301HP:0045037Abnormality of jaw muscles1CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromes88
HP:0000301HP:0030319Weakness of facial musculature1CHRNE CL E G H11451966OMIM:616324Myasthenic syndrome, congenital, 4B, fast-channel139
HP:0000301HP:0030319Weakness of facial musculature1CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency139
HP:0000301HP:0030319Weakness of facial musculature1CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromes139
HP:0000301HP:0045037Abnormality of jaw muscles1CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromes139
HP:0000301HP:0030319Weakness of facial musculature1CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0000301HP:0030319Weakness of facial musculature1CLCF1 CL E G H2352917412OMIM:610313Cold-Induced sweating syndrome 26
HP:0000301HP:0030319Weakness of facial musculature1CLCN7 CL E G H11862025ORPHA:53Albers-Schönberg osteopetrosis102
HP:0000301HP:0030319Weakness of facial musculature1CLCN7 CL E G H11862025OMIM:166600Osteopetrosis, autosomal dominant 2102
HP:0000301HP:0030319Weakness of facial musculature1CLCN7 CL E G H11862025OMIM:611490Osteopetrosis, autosomal recessive 4102
HP:0000301HP:0000338Hypomimic face1CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 561
HP:0000301HP:0030319Weakness of facial musculature1CNBP CL E G H755513164OMIM:602668Dystrophia myotonica 21
HP:0000301HP:0030319Weakness of facial musculature1CNTNAP1 CL E G H85068011OMIM:616286Lethal congenital contracture syndrome 79
HP:0000301HP:0030319Weakness of facial musculature1CNTNAP1 CL E G H85068011OMIM:618186Neuropathy, congenital hypomyelinating, 39
HP:0000301HP:0030319Weakness of facial musculature1COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndromeHP:0040283 - Occasional65
HP:0000301HP:0030319Weakness of facial musculature1COL12A1 CL E G H13032188OMIM:616470ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD265
HP:0000301HP:0030319Weakness of facial musculature1COL13A1 CL E G H13052190OMIM:616720Myasthenic syndrome, congenital, 196
HP:0000301HP:0045037Abnormality of jaw muscles1COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromes6
HP:0000301HP:0030319Weakness of facial musculature1COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromes6
HP:0000301HP:0030319Weakness of facial musculature1COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromes6
HP:0000301HP:0030319Weakness of facial musculature1COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0000301HP:0030319Weakness of facial musculature1COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies193
HP:0000301HP:0030319Weakness of facial musculature1COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1442
HP:0000301HP:0030319Weakness of facial musculature1COL6A2 CL E G H12922212OMIM:255600Myosclerosis, autosomal recessive478
HP:0000301HP:0030319Weakness of facial musculature1COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1478
HP:0000301HP:0030319Weakness of facial musculature1COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1702
HP:0000301HP:0030319Weakness of facial musculature1COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromes90
HP:0000301HP:0045037Abnormality of jaw muscles1COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0000301HP:0045037Abnormality of jaw muscles1COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0000301HP:0030319Weakness of facial musculature1COX6A2 CL E G H13392279OMIM:619062MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0000301HP:0030319Weakness of facial musculature1CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 124
HP:0000301HP:0030319Weakness of facial musculature1CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disability
HP:0000301HP:0030319Weakness of facial musculature1CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathy46
HP:0000301HP:0030319Weakness of facial musculature1DBH CL E G H16212689OMIM:223360Dopamine beta-hydroxylase deficiency, congenital80
HP:0000301HP:0030319Weakness of facial musculature1DCTN1 CL E G H16392711OMIM:607641Neuronopathy, distal hereditary motor, type VIIB86
HP:0000301HP:0000338Hypomimic face1DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive29
HP:0000301HP:0030319Weakness of facial musculature1DES CL E G H16742770ORPHA:98909DesminopathyHP:0040283 - Occasional263
HP:0000301HP:0030319Weakness of facial musculature1DES CL E G H16742770OMIM:601419Myopathy, myofibrillar, 1263
HP:0000301HP:0030319Weakness of facial musculature1DLL4 CL E G H545672910ORPHA:1114Aplasia cutis congenita9
HP:0000301HP:0000297Facial hypotonia1DMPK CL E G H17602933ORPHA:589821Congenital-onset Steinert myotonic dystrophy152
HP:0000301HP:0030319Weakness of facial musculature1DMPK CL E G H17602933OMIM:160900Myotonic dystrophy 1152
HP:0000301HP:0030319Weakness of facial musculature1DNA2 CL E G H17632939OMIM:615156Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 641
HP:0000301HP:0030319Weakness of facial musculature1DNAJB6 CL E G H1004914888OMIM:603511Muscular dystrophy, limb-girdle, type 1E103
HP:0000301HP:0000338Hypomimic face1DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional2
HP:0000301HP:0000338Hypomimic face1DNAJC6 CL E G H982915469ORPHA:391411Atypical juvenile parkinsonismHP:0040281 - Very frequent6
HP:0000301HP:0000338Hypomimic face1DNAJC6 CL E G H982915469OMIM:615528Parkinson disease 19a, juvenile-onset6
HP:0000301HP:0030319Weakness of facial musculature1DNM1L CL E G H100592973ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040284 - Very rare94
HP:0000301HP:0030319Weakness of facial musculature1DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0000301HP:0030319Weakness of facial musculature1DNMT3B CL E G H17892979OMIM:619478FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC; FSHD479
HP:0000301HP:0030319Weakness of facial musculature1DOK7 CL E G H28548926594OMIM:254300Myasthenia, limb-girdle, familial91
HP:0000301HP:0045037Abnormality of jaw muscles1DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromes91
HP:0000301HP:0030319Weakness of facial musculature1DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromes91
HP:0000301HP:0030319Weakness of facial musculature1DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defect38
HP:0000301HP:0000297Facial hypotonia1DSE CL E G H2994021144OMIM:615539Ehlers-Danlos syndrome, musculocontractural type, 2.13
HP:0000301HP:0000297Facial hypotonia1DYNC1H1 CL E G H17782961OMIM:614563Mental retardation, autosomal dominant 13427
HP:0000301HP:0030319Weakness of facial musculature1EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0000301HP:0000338Hypomimic face1EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional2
HP:0000301HP:0030319Weakness of facial musculature1EYA1 CL E G H21383519ORPHA:107BOR syndrome135
HP:0000301HP:0030319Weakness of facial musculature1EYA1 CL E G H21383519ORPHA:52429Branchiootic syndrome135
HP:0000301HP:0030319Weakness of facial musculature1EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1135
HP:0000301HP:0000338Hypomimic face1FBXO7 CL E G H2579313586OMIM:260300Parkinson disease 15, autosomal recessive early-onset.36
HP:0000301HP:0000338Hypomimic face1FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent36
HP:0000301HP:0030319Weakness of facial musculature1FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disability157
HP:0000301HP:0030319Weakness of facial musculature1FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disability157
HP:0000301HP:0030319Weakness of facial musculature1FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5157
HP:0000301HP:0030319Weakness of facial musculature1FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disability184
HP:0000301HP:0030319Weakness of facial musculature1FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvementHP:0040283 - Occasional197
HP:0000301HP:0030319Weakness of facial musculature1FRG1 CL E G H24833954OMIM:158900Facioscapulohumeral muscular dystrophy 11
HP:0000301HP:0000338Hypomimic face1FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 333
HP:0000301HP:0000338Hypomimic face1FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040282 - Frequent33
HP:0000301HP:0000297Facial hypotonia1GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onsetHP:0040282 - Frequent407
HP:0000301HP:0030319Weakness of facial musculature1GAN CL E G H81394137ORPHA:643Giant axonal neuropathy121
HP:0000301HP:0030319Weakness of facial musculature1GAN CL E G H81394137OMIM:256850Giant axonal neuropathy 1, autosomal recessive121
HP:0000301HP:0000338Hypomimic face1GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional
HP:0000301HP:0030319Weakness of facial musculature1GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0000301HP:0030319Weakness of facial musculature1GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defect128
HP:0000301HP:0030319Weakness of facial musculature1GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency128
HP:0000301HP:0030319Weakness of facial musculature1GFPT1 CL E G H26734241OMIM:610542Myasthenic syndrome, congenital, with tubular aggregates 1128
HP:0000301HP:0000338Hypomimic face1GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional8
HP:0000301HP:0030319Weakness of facial musculature1GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040281 - Very frequent
HP:0000301HP:0045037Abnormality of jaw muscles1GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0000301HP:0430019Abnormality of muscle of facial expression1GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0000301HP:0030319Weakness of facial musculature1GIPC1 CL E G H107551226OMIM:618940OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0000301HP:0030319Weakness of facial musculature1GJA1 CL E G H26974274ORPHA:1522Craniometaphyseal dysplasia68
HP:0000301HP:0030319Weakness of facial musculature1GJA1 CL E G H26974274OMIM:218400Craniometaphyseal dysplasia, autosomal recessive68
HP:0000301HP:0030319Weakness of facial musculature1GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 237
HP:0000301HP:0030319Weakness of facial musculature1GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease45
HP:0000301HP:0030319Weakness of facial musculature1GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disability34
HP:0000301HP:0030319Weakness of facial musculature1GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defect34
HP:0000301HP:0030319Weakness of facial musculature1GNE CL E G H1002023657ORPHA:602GNE myopathy173
HP:0000301HP:0000297Facial hypotonia1GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0000301HP:0000297Facial hypotonia1GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0000301HP:0000297Facial hypotonia1GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0000301HP:0030319Weakness of facial musculature1GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0000301HP:0030319Weakness of facial musculature1HACD1 CL E G H92009639OMIM:6199672
HP:0000301HP:0030319Weakness of facial musculature1HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent2
HP:0000301HP:0000297Facial hypotonia1HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndromeHP:0040283 - Occasional16
HP:0000301HP:0030319Weakness of facial musculature1HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0000301HP:0030319Weakness of facial musculature1HLA-DRB1 CL E G H31234948ORPHA:797Sarcoidosis2
HP:0000301HP:0030319Weakness of facial musculature1HOXB1 CL E G H32115111OMIM:614744Facial paresis, hereditary congenital, 32
HP:0000301HP:0030319Weakness of facial musculature1IRF2BPL CL E G H6420714282OMIM:618088Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures.
HP:0000301HP:0045037Abnormality of jaw muscles1IRF6 CL E G H36646121ORPHA:141291Cleft lip and alveolus99
HP:0000301HP:0030319Weakness of facial musculature1ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent127
HP:0000301HP:0030319Weakness of facial musculature1ITGB4 CL E G H36916158ORPHA:1114Aplasia cutis congenita124
HP:0000301HP:0030319Weakness of facial musculature1JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0000301HP:0000338Hypomimic face1JAM2 CL E G H5849414686OMIM:618824BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0000301HP:0030319Weakness of facial musculature1KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathy80
HP:0000301HP:0000297Facial hypotonia1KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome.
HP:0000301HP:0000338Hypomimic face1KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel typeHP:0040282 - Frequent4
HP:0000301HP:0000297Facial hypotonia1KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000301HP:0000297Facial hypotonia1KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type.81
HP:0000301HP:0030319Weakness of facial musculature1KIF1B CL E G H2309516636OMIM:118210Charcot-Marie-Tooth disease, axonal, type 2A1202
HP:0000301HP:0030319Weakness of facial musculature1KLHL40 CL E G H13137730372OMIM:615348NEMALINE MYOPATHY 8; NEM828
HP:0000301HP:0030319Weakness of facial musculature1KLHL40 CL E G H13137730372ORPHA:171430Severe congenital nemaline myopathy28
HP:0000301HP:0030319Weakness of facial musculature1KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathy13
HP:0000301HP:0030319Weakness of facial musculature1KLHL41 CL E G H1032416905ORPHA:171433Intermediate nemaline myopathy13
HP:0000301HP:0030319Weakness of facial musculature1KLHL41 CL E G H1032416905ORPHA:171430Severe congenital nemaline myopathy13
HP:0000301HP:0030319Weakness of facial musculature1KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathy13
HP:0000301HP:0030319Weakness of facial musculature1KY CL E G H33985526576OMIM:617114MYOPATHY, MYOFIBRILLAR, 7; MFM73
HP:0000301HP:0030319Weakness of facial musculature1LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophy411
HP:0000301HP:0030319Weakness of facial musculature1LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromes92
HP:0000301HP:0030319Weakness of facial musculature1LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disability136
HP:0000301HP:0030319Weakness of facial musculature1LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6136
HP:0000301HP:0000317Facial myokymia1LGI3 CL E G H20319018711OMIM:620007
HP:0000301HP:0030319Weakness of facial musculature1LMOD3 CL E G H562036649OMIM:616165Nemaline myopathy 1011
HP:0000301HP:0030319Weakness of facial musculature1LMOD3 CL E G H562036649ORPHA:171430Severe congenital nemaline myopathy11
HP:0000301HP:0030319Weakness of facial musculature1LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathy11
HP:0000301HP:0045037Abnormality of jaw muscles1LPIN1 CL E G H2317513345ORPHA:99845Genetic recurrent myoglobinuria95
HP:0000301HP:0030319Weakness of facial musculature1LRIF1 CL E G H5579130299OMIM:619477FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0000301HP:0030319Weakness of facial musculature1LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1
HP:0000301HP:0045037Abnormality of jaw muscles1LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromes124
HP:0000301HP:0030319Weakness of facial musculature1LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromes124
HP:0000301HP:0030319Weakness of facial musculature1LRP4 CL E G H40386696ORPHA:3152Sclerosteosis124
HP:0000301HP:0030319Weakness of facial musculature1LRP4 CL E G H40386696OMIM:614305Sclerosteosis 2124
HP:0000301HP:0030319Weakness of facial musculature1LRP5 CL E G H40416697ORPHA:2790Endosteal hyperostosis, Worth type125
HP:0000301HP:0030319Weakness of facial musculature1LRP5 CL E G H40416697ORPHA:3416Hyperostosis corticalis generalisata125
HP:0000301HP:0030319Weakness of facial musculature1LRP5 CL E G H40416697ORPHA:178377Osteosclerosis-developmental delay-craniosynostosis syndrome125
HP:0000301HP:0000338Hypomimic face1LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional221
HP:0000301HP:0000297Facial hypotonia1MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040283 - Occasional136
HP:0000301HP:0030319Weakness of facial musculature1MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent2
HP:0000301HP:0000297Facial hypotonia1MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0000301HP:0000297Facial hypotonia1MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0000301HP:0030319Weakness of facial musculature1MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset158
HP:0000301HP:0030319Weakness of facial musculature1MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 1111
HP:0000301HP:0030319Weakness of facial musculature1MGME1 CL E G H9266716205ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndromeHP:0040282 - Frequent11
HP:0000301HP:0030319Weakness of facial musculature1MPZ CL E G H43597225OMIM:618184Neuropathy, congenital hypomyelinating, 2134
HP:0000301HP:0030319Weakness of facial musculature1MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndromeHP:0040282 - Frequent
HP:0000301HP:0045037Abnormality of jaw muscles1MSX1 CL E G H44877391ORPHA:141291Cleft lip and alveolus12
HP:0000301HP:0030319Weakness of facial musculature1MTM1 CL E G H45347448OMIM:310400Myopathy, centronuclear, X-linked185
HP:0000301HP:0030319Weakness of facial musculature1MTM1 CL E G H45347448ORPHA:596X-linked centronuclear myopathy185
HP:0000301HP:0030319Weakness of facial musculature1MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0000301HP:0030319Weakness of facial musculature1MTMR2 CL E G H88987450OMIM:601382Charcot-Marie-Tooth disease, type 4B188
HP:0000301HP:0030319Weakness of facial musculature1MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7
HP:0000301HP:0030319Weakness of facial musculature1MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7
HP:0000301HP:0030319Weakness of facial musculature1MUSK CL E G H45937525OMIM:616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency72
HP:0000301HP:0030319Weakness of facial musculature1MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromes72
HP:0000301HP:0045037Abnormality of jaw muscles1MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromes72
HP:0000301HP:0030319Weakness of facial musculature1MYH7 CL E G H46257577ORPHA:324604Classic multiminicore myopathyHP:0040282 - Frequent1269
HP:0000301HP:0030319Weakness of facial musculature1MYH7 CL E G H46257577ORPHA:59135Laing early-onset distal myopathy1269
HP:0000301HP:0030319Weakness of facial musculature1MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophy1269
HP:0000301HP:0030319Weakness of facial musculature1MYH7 CL E G H46257577OMIM:255310Myopathy, congenital, with fiber-type disproportion1269
HP:0000301HP:0030319Weakness of facial musculature1MYH7 CL E G H46257577OMIM:160500Myopathy, distal, 11269
HP:0000301HP:0030319Weakness of facial musculature1MYH7 CL E G H46257577OMIM:181430Scapuloperoneal myopathy, myh7-related.1269
HP:0000301HP:0030319Weakness of facial musculature1MYL1 CL E G H46327582OMIM:618414Myopathy, congenital, with fast-twitch (type ii) fiber atrophy.
HP:0000301HP:0030319Weakness of facial musculature1MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent131
HP:0000301HP:0030319Weakness of facial musculature1MYL2 CL E G H46337583OMIM:619424MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12131
HP:0000301HP:0030319Weakness of facial musculature1MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome5
HP:0000301HP:0030319Weakness of facial musculature1MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndrome5
HP:0000301HP:0000338Hypomimic face1MYMX CL E G H10192972652391OMIM:619941
HP:0000301HP:0030319Weakness of facial musculature1MYMX CL E G H10192972652391OMIM:619941
HP:0000301HP:0030319Weakness of facial musculature1MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndrome
HP:0000301HP:0030319Weakness of facial musculature1MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromes
HP:0000301HP:0000297Facial hypotonia1MYOT CL E G H949912399ORPHA:266Autosomal dominant limb-girdle muscular dystrophy type 1AHP:0040283 - Occasional75
HP:0000301HP:0030319Weakness of facial musculature1MYPN CL E G H8466523246ORPHA:171881Cap myopathy217
HP:0000301HP:0030319Weakness of facial musculature1MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathy217
HP:0000301HP:0030319Weakness of facial musculature1MYPN CL E G H8466523246OMIM:617336Nemaline myopathy 11, autosomal recessive217
HP:0000301HP:0030319Weakness of facial musculature1NARS2 CL E G H7973126274OMIM:616239Combined oxidative phosphorylation deficiency 2434
HP:0000301HP:0030319Weakness of facial musculature1NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathy745
HP:0000301HP:0030319Weakness of facial musculature1NEB CL E G H47037720ORPHA:399103Distal nebulin myopathyHP:0040283 - Occasional745
HP:0000301HP:0030319Weakness of facial musculature1NEB CL E G H47037720ORPHA:171433Intermediate nemaline myopathy745
HP:0000301HP:0030319Weakness of facial musculature1NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0000301HP:0030319Weakness of facial musculature1NEB CL E G H47037720ORPHA:171430Severe congenital nemaline myopathy745
HP:0000301HP:0030319Weakness of facial musculature1NEB CL E G H47037720ORPHA:171436Typical nemaline myopathy745
HP:0000301HP:0045037Abnormality of jaw muscles1NECTIN1 CL E G H58189706ORPHA:141291Cleft lip and alveolus4
HP:0000301HP:0030319Weakness of facial musculature1NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040283 - Occasional118
HP:0000301HP:0030319Weakness of facial musculature1NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E118
HP:0000301HP:0030319Weakness of facial musculature1NF2 CL E G H47717773ORPHA:2495Meningioma220
HP:0000301HP:0030319Weakness of facial musculature1NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2220
HP:0000301HP:0030319Weakness of facial musculature1NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 134
HP:0000301HP:0000297Facial hypotonia1NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040283 - Occasional32
HP:0000301HP:0000297Facial hypotonia1NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0000301HP:0030319Weakness of facial musculature1NOD2 CL E G H641275331ORPHA:90340Blau syndrome187
HP:0000301HP:0045037Abnormality of jaw muscles1NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathy
HP:0000301HP:0030319Weakness of facial musculature1NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040281 - Very frequent
HP:0000301HP:0430019Abnormality of muscle of facial expression1NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathy
HP:0000301HP:0030319Weakness of facial musculature1NOTCH2NLC CL E G H10099671753924OMIM:619473OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0000301HP:0030319Weakness of facial musculature1NUTM2B-AS1 CL E G H10106069151204OMIM:618637OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0000301HP:0000338Hypomimic face1OGDHL CL E G H5575325590OMIM:619701YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN3
HP:0000301HP:0030319Weakness of facial musculature1OPA1 CL E G H49768140ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040284 - Very rare214
HP:0000301HP:0030319Weakness of facial musculature1OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 573
HP:0000301HP:0030319Weakness of facial musculature1PABPN1 CL E G H81068565OMIM:164300Oculopharyngeal muscular dystrophy10
HP:0000301HP:0000297Facial hypotonia1PAX7 CL E G H50818621OMIM:618578MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000301HP:0000297Facial hypotonia1PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0000301HP:0030319Weakness of facial musculature1PDGFB CL E G H51558800ORPHA:2495Meningioma9
HP:0000301HP:0030319Weakness of facial musculature1PEX1 CL E G H51898850ORPHA:772Infantile Refsum disease169
HP:0000301HP:0030319Weakness of facial musculature1PEX10 CL E G H51928851ORPHA:772Infantile Refsum disease75
HP:0000301HP:0030319Weakness of facial musculature1PEX11B CL E G H87998853ORPHA:772Infantile Refsum disease4
HP:0000301HP:0030319Weakness of facial musculature1PEX12 CL E G H51938854ORPHA:772Infantile Refsum disease65
HP:0000301HP:0030319Weakness of facial musculature1PEX13 CL E G H51948855ORPHA:772Infantile Refsum disease66
HP:0000301HP:0030319Weakness of facial musculature1PEX14 CL E G H51958856ORPHA:772Infantile Refsum disease46
HP:0000301HP:0030319Weakness of facial musculature1PEX16 CL E G H94098857ORPHA:772Infantile Refsum disease59
HP:0000301HP:0030319Weakness of facial musculature1PEX19 CL E G H58249713ORPHA:772Infantile Refsum disease62
HP:0000301HP:0030319Weakness of facial musculature1PEX2 CL E G H58289717ORPHA:772Infantile Refsum disease82
HP:0000301HP:0030319Weakness of facial musculature1PEX26 CL E G H5567022965ORPHA:772Infantile Refsum disease106
HP:0000301HP:0030319Weakness of facial musculature1PEX3 CL E G H85048858ORPHA:772Infantile Refsum disease47
HP:0000301HP:0030319Weakness of facial musculature1PEX5 CL E G H58309719ORPHA:772Infantile Refsum disease99
HP:0000301HP:0030319Weakness of facial musculature1PEX6 CL E G H51908859ORPHA:772Infantile Refsum disease98
HP:0000301HP:0030319Weakness of facial musculature1PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040282 - Frequent11
HP:0000301HP:0045037Abnormality of jaw muscles1PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyria11
HP:0000301HP:0030319Weakness of facial musculature1PIK3CA CL E G H52908975ORPHA:2495Meningioma162
HP:0000301HP:0000338Hypomimic face1PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonismHP:0040282 - Frequent133
HP:0000301HP:0000338Hypomimic face1PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0000301HP:0000338Hypomimic face1PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies.3
HP:0000301HP:0030319Weakness of facial musculature1PLEC CL E G H53399069ORPHA:1114Aplasia cutis congenita759
HP:0000301HP:0030319Weakness of facial musculature1PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17759
HP:0000301HP:0030319Weakness of facial musculature1PLXND1 CL E G H231299107ORPHA:570Moebius syndrome
HP:0000301HP:0000317Facial myokymia1PNPT1 CL E G H8717823166OMIM:608703Spinocerebellar ataxia 25.60
HP:0000301HP:0000317Facial myokymia1PNPT1 CL E G H8717823166ORPHA:101111Spinocerebellar ataxia type 25HP:0040283 - Occasional60
HP:0000301HP:0000338Hypomimic face1PODXL CL E G H54209171ORPHA:391411Atypical juvenile parkinsonismHP:0040281 - Very frequent6
HP:0000301HP:0000297Facial hypotonia1POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome.35
HP:0000301HP:0000297Facial hypotonia1POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040284 - Very rare35
HP:0000301HP:0000338Hypomimic face1POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent464
HP:0000301HP:0030319Weakness of facial musculature1POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegia464
HP:0000301HP:0030319Weakness of facial musculature1POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegia464
HP:0000301HP:0030319Weakness of facial musculature1POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1464
HP:0000301HP:0030319Weakness of facial musculature1POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0000301HP:0030319Weakness of facial musculature1POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0000301HP:0000338Hypomimic face1POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent45
HP:0000301HP:0030319Weakness of facial musculature1POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegia45
HP:0000301HP:0030319Weakness of facial musculature1POLG2 CL E G H112329180OMIM:610131Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 445
HP:0000301HP:0030319Weakness of facial musculature1POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disability213
HP:0000301HP:0030319Weakness of facial musculature1POMT1 CL E G H105859202ORPHA:370980Congenital muscular dystrophy without intellectual disability213
HP:0000301HP:0030319Weakness of facial musculature1POMT1 CL E G H105859202OMIM:613155MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1213
HP:0000301HP:0030319Weakness of facial musculature1POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disability221
HP:0000301HP:0030319Weakness of facial musculature1POMT2 CL E G H2995419743OMIM:613156MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2221
HP:0000301HP:0000297Facial hypotonia1POU3F3 CL E G H54559216OMIM:618604SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0000301HP:0000297Facial hypotonia1PPP2R1A CL E G H55189302OMIM:616362Mental retardation, autosomal dominant 36.13
HP:0000301HP:0000297Facial hypotonia1PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndromeHP:0040282 - Frequent13
HP:0000301HP:0000317Facial myokymia1PPP2R2B CL E G H55219305OMIM:604326Spinocerebellar ataxia 12.5
HP:0000301HP:0000297Facial hypotonia1PPP2R5D CL E G H55289312OMIM:616355Mental retardation, autosomal dominant 35.10
HP:0000301HP:0000338Hypomimic face1PRDX3 CL E G H109359354OMIM:619862
HP:0000301HP:0000317Facial myokymia1PRKCG CL E G H55829402OMIM:605361Spinocerebellar ataxia 14.83
HP:0000301HP:0030319Weakness of facial musculature1PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraine94
HP:0000301HP:0030319Weakness of facial musculature1PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfism6
HP:0000301HP:0030319Weakness of facial musculature1PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic disease6
HP:0000301HP:0030319Weakness of facial musculature1PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome19
HP:0000301HP:0000297Facial hypotonia1PURA CL E G H58139701ORPHA:438216PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutationHP:0040283 - Occasional53
HP:0000301HP:0000297Facial hypotonia1RAB11B CL E G H92309761OMIM:617807Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter.
HP:0000301HP:0045037Abnormality of jaw muscles1RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromes73
HP:0000301HP:0030319Weakness of facial musculature1RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromes73
HP:0000301HP:0030319Weakness of facial musculature1REV3L CL E G H59809968ORPHA:570Moebius syndrome3
HP:0000301HP:0030319Weakness of facial musculature1RILPL1 CL E G H35311626814OMIM:619790OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0000301HP:0030319Weakness of facial musculature1RNASEH1 CL E G H24624318466ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040282 - Frequent3
HP:0000301HP:0030319Weakness of facial musculature1RRM2B CL E G H5048417296ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040282 - Frequent125
HP:0000301HP:0030319Weakness of facial musculature1RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegia125
HP:0000301HP:0000338Hypomimic face1RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent125
HP:0000301HP:0030319Weakness of facial musculature1RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathy1200
HP:0000301HP:0030319Weakness of facial musculature1RYR1 CL E G H626110483OMIM:117000Central core disease1200
HP:0000301HP:0030319Weakness of facial musculature1RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegia1200
HP:0000301HP:0030319Weakness of facial musculature1RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0000301HP:0045037Abnormality of jaw muscles1RYR1 CL E G H626110483ORPHA:423Malignant hyperthermia of anesthesia1200
HP:0000301HP:0030319Weakness of facial musculature1RYR1 CL E G H626110483OMIM:255320Minicore myopathy with external ophthalmoplegia1200
HP:0000301HP:0030319Weakness of facial musculature1RYR1 CL E G H626110483ORPHA:178145Moderate multiminicore disease with hand involvement1200
HP:0000301HP:0030319Weakness of facial musculature1RYR1 CL E G H626110483OMIM:255310Myopathy, congenital, with fiber-type disproportion1200
HP:0000301HP:0030319Weakness of facial musculature1SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome86
HP:0000301HP:0000297Facial hypotonia1SATB2 CL E G H2331421637OMIM:612313Glass syndrome34
HP:0000301HP:0030319Weakness of facial musculature1SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0000301HP:0030319Weakness of facial musculature1SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraine1053
HP:0000301HP:0002491Spasticity of facial muscles1SCN4A CL E G H632910591ORPHA:99734Myotonia fluctuansHP:0040282 - Frequent263
HP:0000301HP:0012892Facial muscle hypertrophy1SCN4A CL E G H632910591ORPHA:684Paramyotonia congenita of Von EulenburgHP:0040282 - Frequent263
HP:0000301HP:0045037Abnormality of jaw muscles1SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromes263
HP:0000301HP:0030319Weakness of facial musculature1SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromes263
HP:0000301HP:0030319Weakness of facial musculature1SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect40
HP:0000301HP:0030319Weakness of facial musculature1SELENON CL E G H5719015999ORPHA:324604Classic multiminicore myopathyHP:0040282 - Frequent144
HP:0000301HP:0030319Weakness of facial musculature1SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent144
HP:0000301HP:0030319Weakness of facial musculature1SELENON CL E G H5719015999OMIM:255310Myopathy, congenital, with fiber-type disproportion144
HP:0000301HP:0030319Weakness of facial musculature1SELENON CL E G H5719015999OMIM:602771Rigid spine muscular dystrophy 1144
HP:0000301HP:0030319Weakness of facial musculature1SEMA3E CL E G H972310727ORPHA:138CHARGE syndrome16
HP:0000301HP:0000297Facial hypotonia1SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 581
HP:0000301HP:0004660Hypoplasia of facial musculature1SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia.2
HP:0000301HP:0030319Weakness of facial musculature1SGCD CL E G H644410807ORPHA:219Delta-sarcoglycan-related limb-girdle muscular dystrophy R6223
HP:0000301HP:0030319Weakness of facial musculature1SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4CHP:0040283 - Occasional493
HP:0000301HP:0030319Weakness of facial musculature1SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C493
HP:0000301HP:0030319Weakness of facial musculature1SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000301HP:0030319Weakness of facial musculature1SIX1 CL E G H649510887ORPHA:107BOR syndrome50
HP:0000301HP:0030319Weakness of facial musculature1SIX1 CL E G H649510887ORPHA:52429Branchiootic syndrome50
HP:0000301HP:0030319Weakness of facial musculature1SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 150
HP:0000301HP:0030319Weakness of facial musculature1SIX5 CL E G H14791210891ORPHA:107BOR syndrome10
HP:0000301HP:0030319Weakness of facial musculature1SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy163
HP:0000301HP:0000338Hypomimic face1SLC18A2 CL E G H657110935ORPHA:352649Brain dopamine-serotonin vesicular transport diseaseHP:0040281 - Very frequent2
HP:0000301HP:0000338Hypomimic face1SLC18A2 CL E G H657110935OMIM:618049Parkinsonism-Dystonia, infantile, 22
HP:0000301HP:0030319Weakness of facial musculature1SLC18A3 CL E G H657210936OMIM:617239Myasthenic syndrome, congenital, 21, presynaptic2
HP:0000301HP:0030319Weakness of facial musculature1SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0000301HP:0030319Weakness of facial musculature1SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0000301HP:0000297Facial hypotonia1SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional63
HP:0000301HP:0030319Weakness of facial musculature1SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromes28
HP:0000301HP:0030319Weakness of facial musculature1SLC25A21 CL E G H8987414411OMIM:618811MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0000301HP:0000338Hypomimic face1SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent68
HP:0000301HP:0030319Weakness of facial musculature1SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegia68
HP:0000301HP:0030319Weakness of facial musculature1SLC25A4 CL E G H29110990OMIM:609283Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 268
HP:0000301HP:0030319Weakness of facial musculature1SLC25A42 CL E G H28443928380OMIM:618416Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression.1
HP:0000301HP:0000338Hypomimic face1SLC30A10 CL E G H5553225355ORPHA:309854Cirrhosis-dystonia-polycythemia-hypermanganesemia syndromeHP:0040282 - Frequent42
HP:0000301HP:0000297Facial hypotonia1SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1
HP:0000301HP:0000338Hypomimic face1SLC39A14 CL E G H2351620858ORPHA:521406Dystonia-parkinsonism-hypermanganesemia syndromeHP:0040282 - Frequent5
HP:0000301HP:0000338Hypomimic face1SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 25
HP:0000301HP:0030319Weakness of facial musculature1SLC39A14 CL E G H2351620858OMIM:144755Hyperostosis cranialis interna5
HP:0000301HP:0030319Weakness of facial musculature1SLC52A2 CL E G H7958130224OMIM:614707Brown-Vialetto-Van laere syndrome 247
HP:0000301HP:0030319Weakness of facial musculature1SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 151
HP:0000301HP:0030319Weakness of facial musculature1SLC52A3 CL E G H11327816187OMIM:211500Bulbar palsy, progressive, of childhood51
HP:0000301HP:0030319Weakness of facial musculature1SLC5A7 CL E G H6048214025OMIM:617143Myasthenic syndrome, congenital, 20, presynaptic9
HP:0000301HP:0030319Weakness of facial musculature1SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromes9
HP:0000301HP:0000338Hypomimic face1SLC6A3 CL E G H653111049ORPHA:238455Infantile dystonia-parkinsonismHP:0040282 - Frequent13
HP:0000301HP:0000338Hypomimic face1SLC6A3 CL E G H653111049OMIM:613135Parkinsonism-Dystonia, infantile, 113
HP:0000301HP:0030319Weakness of facial musculature1SMARCB1 CL E G H659811103ORPHA:2495Meningioma87
HP:0000301HP:0030319Weakness of facial musculature1SMARCE1 CL E G H660511109ORPHA:2495Meningioma47
HP:0000301HP:0030319Weakness of facial musculature1SMCHD1 CL E G H2334729090OMIM:158901FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2174
HP:0000301HP:0030319Weakness of facial musculature1SMO CL E G H660811119ORPHA:2495Meningioma22
HP:0000301HP:0030319Weakness of facial musculature1SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0000301HP:0000338Hypomimic face1SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional65
HP:0000301HP:0000338Hypomimic face1SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent65
HP:0000301HP:0030319Weakness of facial musculature1SNX10 CL E G H2988714974OMIM:615085Osteopetrosis, autosomal recessive 82
HP:0000301HP:0030319Weakness of facial musculature1SOST CL E G H5096413771OMIM:122860Craniodiaphyseal dysplasia, autosomal dominant26
HP:0000301HP:0030319Weakness of facial musculature1SOST CL E G H5096413771ORPHA:3416Hyperostosis corticalis generalisata26
HP:0000301HP:0030319Weakness of facial musculature1SOST CL E G H5096413771ORPHA:3152Sclerosteosis26
HP:0000301HP:0030319Weakness of facial musculature1SOST CL E G H5096413771OMIM:269500Sclerosteosis 126
HP:0000301HP:0030319Weakness of facial musculature1SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathy20
HP:0000301HP:0030319Weakness of facial musculature1SPEG CL E G H1029016901OMIM:615959Myopathy, centronuclear, 520
HP:0000301HP:0000338Hypomimic face1SPR CL E G H669711257ORPHA:70594Dopa-responsive dystonia due to sepiapterin reductase deficiencyHP:0040282 - Frequent28
HP:0000301HP:0000317Facial myokymia1SPTBN2 CL E G H671211276OMIM:600224Spinocerebellar ataxia 5.126
HP:0000301HP:0030319Weakness of facial musculature1SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0000301HP:0030319Weakness of facial musculature1SQSTM1 CL E G H887811280OMIM:617158MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV62
HP:0000301HP:0030319Weakness of facial musculature1SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040282 - Frequent50
HP:0000301HP:0045037Abnormality of jaw muscles1SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyria50
HP:0000301HP:0000297Facial hypotonia1STAG2 CL E G H1073511355ORPHA:521258Xq25 microduplication syndromeHP:0040282 - Frequent1
HP:0000301HP:0000297Facial hypotonia1STRADA CL E G H9233530172OMIM:611087Polyhydramnios, megalencephaly, and symptomatic epilepsy.6
HP:0000301HP:0000297Facial hypotonia1STRADA CL E G H9233530172ORPHA:500533Polyhydramnios-megalencephaly-symptomatic epilepsy syndromeHP:0040283 - Occasional6
HP:0000301HP:0030319Weakness of facial musculature1SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)66
HP:0000301HP:0030319Weakness of facial musculature1SUFU CL E G H5168416466ORPHA:2495Meningioma124
HP:0000301HP:0030319Weakness of facial musculature1SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000301HP:0030319Weakness of facial musculature1SURF1 CL E G H683411474OMIM:220110Mitochondrial complex IV deficiency.73
HP:0000301HP:0030319Weakness of facial musculature1SYNE1 CL E G H2334517089OMIM:618484Arthrogryposis multiplex congenita, Myogenic type.1129
HP:0000301HP:0030319Weakness of facial musculature1SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0000301HP:0000338Hypomimic face1SYNJ1 CL E G H886711503ORPHA:391411Atypical juvenile parkinsonismHP:0040281 - Very frequent9
HP:0000301HP:0030319Weakness of facial musculature1SYT2 CL E G H12783311510OMIM:619461MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B4
HP:0000301HP:0030319Weakness of facial musculature1SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromes4
HP:0000301HP:0030319Weakness of facial musculature1TCIRG1 CL E G H1031211647OMIM:259700Osteopetrosis, autosomal recessive 182
HP:0000301HP:0000338Hypomimic face1TECPR2 CL E G H989519957ORPHA:320385Hereditary sensory and autonomic neuropathy due to TECPR2 mutationHP:0040282 - Frequent39
HP:0000301HP:0000338Hypomimic face1TECPR2 CL E G H989519957OMIM:615031Spastic paraplegia 49, autosomal recessive.39
HP:0000301HP:0030319Weakness of facial musculature1TERT CL E G H701511730ORPHA:2495Meningioma238
HP:0000301HP:0000297Facial hypotonia1TET3 CL E G H20042428313OMIM:618798BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000301HP:0030319Weakness of facial musculature1TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0000301HP:0030319Weakness of facial musculature1TGFB1 CL E G H704011766ORPHA:1328Camurati-Engelmann disease13
HP:0000301HP:0030319Weakness of facial musculature1TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegia103
HP:0000301HP:0030319Weakness of facial musculature1TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type)103
HP:0000301HP:0030319Weakness of facial musculature1TK2 CL E G H708411831ORPHA:254875Mitochondrial DNA depletion syndrome, myopathic formHP:0040283 - Occasional103
HP:0000301HP:0030319Weakness of facial musculature1TK2 CL E G H708411831OMIM:617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3103
HP:0000301HP:0030319Weakness of facial musculature1TNFSF11 CL E G H860011926OMIM:259710Osteopetrosis, autosomal recessive 244
HP:0000301HP:0030319Weakness of facial musculature1TOR1A CL E G H18613098OMIM:128100Dystonia 1, torsion, autosomal dominant47
HP:0000301HP:0045037Abnormality of jaw muscles1TP63 CL E G H862615979ORPHA:141291Cleft lip and alveolus140
HP:0000301HP:0030319Weakness of facial musculature1TPM2 CL E G H716912011ORPHA:171881Cap myopathy54
HP:0000301HP:0030319Weakness of facial musculature1TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathy54
HP:0000301HP:0030319Weakness of facial musculature1TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent54
HP:0000301HP:0030319Weakness of facial musculature1TPM2 CL E G H716912011OMIM:255310Myopathy, congenital, with fiber-type disproportion54
HP:0000301HP:0030319Weakness of facial musculature1TPM2 CL E G H716912011OMIM:609285Nemaline myopathy 454
HP:0000301HP:0030319Weakness of facial musculature1TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathy54
HP:0000301HP:0030319Weakness of facial musculature1TPM3 CL E G H717012012ORPHA:171881Cap myopathy108
HP:0000301HP:0030319Weakness of facial musculature1TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathy108
HP:0000301HP:0030319Weakness of facial musculature1TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent108
HP:0000301HP:0030319Weakness of facial musculature1TPM3 CL E G H717012012ORPHA:171433Intermediate nemaline myopathy108
HP:0000301HP:0030319Weakness of facial musculature1TPM3 CL E G H717012012OMIM:255310Myopathy, congenital, with fiber-type disproportion108
HP:0000301HP:0030319Weakness of facial musculature1TPM3 CL E G H717012012OMIM:609284Nemaline myopathy 1108
HP:0000301HP:0030319Weakness of facial musculature1TRAF7 CL E G H8423120456ORPHA:2495Meningioma
HP:0000301HP:0030319Weakness of facial musculature1TREX1 CL E G H1127712269ORPHA:247691Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestationsHP:0040283 - Occasional56
HP:0000301HP:0030319Weakness of facial musculature1TRIM32 CL E G H2295416380OMIM:254110Muscular dystrophy, limb-girdle, type 2H108
HP:0000301HP:0030319Weakness of facial musculature1TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitusHP:0040283 - Occasional
HP:0000301HP:0030319Weakness of facial musculature1TRNN CL E G H45707493OMIM:220110Mitochondrial complex IV deficiency.
HP:0000301HP:0030319Weakness of facial musculature1TRNS1 CL E G H45747497OMIM:220110Mitochondrial complex IV deficiency.
HP:0000301HP:0030319Weakness of facial musculature1TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy214
HP:0000301HP:0030319Weakness of facial musculature1TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathy7128
HP:0000301HP:0030319Weakness of facial musculature1TTN CL E G H727312403ORPHA:324604Classic multiminicore myopathyHP:0040282 - Frequent7128
HP:0000301HP:0030319Weakness of facial musculature1TTN CL E G H727312403OMIM:611705Salih myopathy7128
HP:0000301HP:0030319Weakness of facial musculature1TUBB3 CL E G H1038120772OMIM:600638Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement64
HP:0000301HP:0030319Weakness of facial musculature1TUBB6 CL E G H8461720776OMIM:617732Facial palsy, congenital, with ptosis and velopharyngeal dysfunction
HP:0000301HP:0030319Weakness of facial musculature1TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegia113
HP:0000301HP:0000338Hypomimic face1TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent113
HP:0000301HP:0030319Weakness of facial musculature1TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0000301HP:0000338Hypomimic face1TXNL4A CL E G H1090730551OMIM:608572Burn-Mckeown syndrome.19
HP:0000301HP:0030319Weakness of facial musculature1UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophyHP:0040283 - Occasional35
HP:0000301HP:0030319Weakness of facial musculature1UBA1 CL E G H731712469OMIM:301830Spinal muscular atrophy, X-linked 235
HP:0000301HP:0030319Weakness of facial musculature1UBA2 CL E G H1005430661ORPHA:1114Aplasia cutis congenita
HP:0000301HP:0000297Facial hypotonia1UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 223
HP:0000301HP:0030319Weakness of facial musculature1VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0000301HP:0030319Weakness of facial musculature1VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutation63
HP:0000301HP:0030319Weakness of facial musculature1VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 163
HP:0000301HP:0000297Facial hypotonia1VPS13B CL E G H1576802183OMIM:216550Cohen syndrome.546
HP:0000301HP:0000338Hypomimic face1VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional37
HP:0000301HP:0030319Weakness of facial musculature1XRCC2 CL E G H751612829OMIM:617247FANCONI ANEMIA, COMPLEMENTATION GROUP U125
HP:0000301HP:0000297Facial hypotonia1XYLT2 CL E G H6413215517ORPHA:85194Spondylo-ocular syndromeHP:0040282 - Frequent5
HP:0000301HP:0030319Weakness of facial musculature1YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000301HP:0030319Weakness of facial musculature1YME1L1 CL E G H1073012843OMIM:617302Optic atrophy 112
HP:0000301HP:0000297Facial hypotonia1YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040283 - Occasional7
HP:0000301HP:0000297Facial hypotonia1YY1 CL E G H752812856OMIM:617557Gabriele-De vries syndrome7
HP:0000301HP:0000297Facial hypotonia1ZBTB11 CL E G H2710716740OMIM:618383Intellectual developmental disorder, autosomal recessive 69.
HP:0000301HP:0030319Weakness of facial musculature1ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome19
HP:0000301HP:0030319Weakness of facial musculature1ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0000301HP:0030319Weakness of facial musculature1ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0000301HP:0000297Facial hypotonia1ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000301HP:3000070Abnormality of levator anguli oris2 CL E G H
HP:0000301HP:3000015Abnormality of risorius muscle2 CL E G H
HP:0000301HP:0430020Abnormality of levator labii superioris alaeque nasi muscle2 CL E G H
HP:0000301HP:3000014Abnormality of procerus muscle2 CL E G H
HP:0000301HP:3000029Abnormality of depressor labii inferioris2 CL E G H
HP:0000301HP:3000028Abnormality of depressor anguli oris muscle2 CL E G H
HP:0000301HP:3000009Abnormality of nasalis muscle2 CL E G H
HP:0000301HP:3000020Abnormality of zygomaticus minor muscle2 CL E G H
HP:0000301HP:0012392Jaw hyporeflexia2 CL E G H
HP:0000301HP:3000018Abnormality of zygomaticus major muscle2 CL E G H
HP:0000301HP:3000071Abnormality of levator labii superioris2 CL E G H
HP:0000301HP:3000007Abnormality of mentalis muscle2 CL E G H
HP:0000301HP:0010628Facial palsy2ABCA1 CL E G H1929OMIM:205400Tangier disease191
HP:0000301HP:0010628Facial palsy2ABCA1 CL E G H1929ORPHA:31150Tangier disease191
HP:0000301HP:0010628Facial palsy2ACADS CL E G H3590OMIM:201470Acyl-Coa dehydrogenase, short-chain, deficiency of.90
HP:0000301HP:0010628Facial palsy2ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathy96
HP:0000301HP:0010628Facial palsy2ACTA1 CL E G H58129ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent96
HP:0000301HP:0010628Facial palsy2ACTA1 CL E G H58129OMIM:255310Myopathy, congenital, with fiber-type disproportion.96
HP:0000301HP:0010628Facial palsy2ACTA1 CL E G H58129OMIM:616852Myopathy, scapulohumeroperoneal96
HP:0000301HP:0010628Facial palsy2ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 3.96
HP:0000301HP:0010628Facial palsy2ACTA1 CL E G H58129ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent96
HP:0000301HP:0010628Facial palsy2ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent96
HP:0000301HP:0010628Facial palsy2ACTA1 CL E G H58129ORPHA:97240Zebra body myopathyHP:0040281 - Very frequent96
HP:0000301HP:0010628Facial palsy2ADA2 CL E G H518161839OMIM:182410Sneddon syndrome.22
HP:0000301HP:0010628Facial palsy2ADCY6 CL E G H112237OMIM:616287Lethal congenital contracture syndrome 82
HP:0000301HP:0410011Abnormality of masticatory muscle2ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional88
HP:0000301HP:0010628Facial palsy2ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyria88
HP:0000301HP:0010628Facial palsy2ADSS1 CL E G H12262220093OMIM:617030Myopathy, distal, 5.
HP:0000301HP:0010628Facial palsy2AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent127
HP:0000301HP:0410011Abnormality of masticatory muscle2AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent127
HP:0000301HP:0010628Facial palsy2AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromes127
HP:0000301HP:0410011Abnormality of masticatory muscle2AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent1
HP:0000301HP:0010628Facial palsy2AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent1
HP:0000301HP:0010628Facial palsy2AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040283 - Occasional54
HP:0000301HP:0010628Facial palsy2ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional12
HP:0000301HP:0010628Facial palsy2ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional46
HP:0000301HP:0010628Facial palsy2AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis.34
HP:0000301HP:0010628Facial palsy2AMER1 CL E G H13928526837ORPHA:2780Osteopathia striata-cranial sclerosis syndromeHP:0040283 - Occasional34
HP:0000301HP:0010628Facial palsy2ANKH CL E G H5617215492ORPHA:1522Craniometaphyseal dysplasiaHP:0040283 - Occasional164
HP:0000301HP:0010628Facial palsy2ANKH CL E G H5617215492OMIM:123000Craniometaphyseal dysplasia, autosomal dominant.164
HP:0000301HP:0010628Facial palsy2ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12HP:0040283 - Occasional304
HP:0000301HP:0010628Facial palsy2ANO5 CL E G H20385927337OMIM:611307Muscular dystrophy, limb-girdle, type 2L.304
HP:0000301HP:0010628Facial palsy2ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy.78
HP:0000301HP:0007209Facial paralysis2ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional239
HP:0000301HP:0410011Abnormality of masticatory muscle2ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 1HP:0040283 - Occasional19
HP:0000301HP:0010628Facial palsy2BAG3 CL E G H9531939OMIM:612954Myopathy, myofibrillar, 6.204
HP:0000301HP:0010628Facial palsy2BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040283 - Occasional184
HP:0000301HP:0010628Facial palsy2BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0000301HP:0010628Facial palsy2BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent99
HP:0000301HP:0010628Facial palsy2BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 2.99
HP:0000301HP:0010628Facial palsy2BMS1 CL E G H979023505ORPHA:1114Aplasia cutis congenitaHP:0040283 - Occasional1
HP:0000301HP:0010628Facial palsy2BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040283 - Occasional1
HP:0000301HP:0010628Facial palsy2BTNL2 CL E G H562441142OMIM:612387Sarcoidosis, susceptibility to, 2.1
HP:0000301HP:0007209Facial paralysis2CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional449
HP:0000301HP:0410011Abnormality of masticatory muscle2CACNA1S CL E G H7791397ORPHA:423Malignant hyperthermia of anesthesia247
HP:0000301HP:0010628Facial palsy2CAPN3 CL E G H8251480OMIM:253600Muscular dystrophy, limb-girdle, type 2AHP:0040283 - Occasional323
HP:0000301HP:0010628Facial palsy2CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent35
HP:0000301HP:0010628Facial palsy2CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromes65
HP:0000301HP:0010628Facial palsy2CHCHD10 CL E G H40091615559OMIM:616209Myopathy, isolated mitochondrial, autosomal dominant.11
HP:0000301HP:0010628Facial palsy2CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040282 - Frequent515
HP:0000301HP:0010628Facial palsy2CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0000301HP:0010628Facial palsy2CHKB CL E G H11201938OMIM:602541Muscular dystrophy, congenital, Megaconial type.53
HP:0000301HP:0010628Facial palsy2CHRNA1 CL E G H11341955OMIM:608930Myasthenic syndrome, congenital, 1B, fast-channel.74
HP:0000301HP:0410011Abnormality of masticatory muscle2CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent74
HP:0000301HP:0010628Facial palsy2CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent74
HP:0000301HP:0010628Facial palsy2CHRNB1 CL E G H11401961OMIM:616313Myasthenic syndrome, congenital, 2A, slow-channel.53
HP:0000301HP:0010628Facial palsy2CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent53
HP:0000301HP:0410011Abnormality of masticatory muscle2CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent53
HP:0000301HP:0010628Facial palsy2CHRND CL E G H11441965OMIM:616322Myasthenic syndrome, congenital, 3B, fast-channel.88
HP:0000301HP:0010628Facial palsy2CHRND CL E G H11441965OMIM:616323Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency.88
HP:0000301HP:0010628Facial palsy2CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent88
HP:0000301HP:0410011Abnormality of masticatory muscle2CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent88
HP:0000301HP:0010628Facial palsy2CHRNE CL E G H11451966OMIM:616324Myasthenic syndrome, congenital, 4B, fast-channel.139
HP:0000301HP:0010628Facial palsy2CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.139
HP:0000301HP:0010628Facial palsy2CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent139
HP:0000301HP:0410011Abnormality of masticatory muscle2CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent139
HP:0000301HP:0010628Facial palsy2CLCN7 CL E G H11862025ORPHA:53Albers-Schönberg osteopetrosisHP:0040281 - Very frequent102
HP:0000301HP:0007209Facial paralysis2CLCN7 CL E G H11862025OMIM:166600Osteopetrosis, autosomal dominant 2.102
HP:0000301HP:0010628Facial palsy2CLCN7 CL E G H11862025OMIM:166600Osteopetrosis, autosomal dominant 2.102
HP:0000301HP:0010628Facial palsy2CLCN7 CL E G H11862025OMIM:611490Osteopetrosis, autosomal recessive 4.102
HP:0000301HP:0010628Facial palsy2CNTNAP1 CL E G H85068011OMIM:616286Lethal congenital contracture syndrome 79
HP:0000301HP:0010628Facial palsy2CNTNAP1 CL E G H85068011OMIM:618186Neuropathy, congenital hypomyelinating, 39
HP:0000301HP:0010628Facial palsy2COL12A1 CL E G H13032188OMIM:616470ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD265
HP:0000301HP:0010628Facial palsy2COL13A1 CL E G H13052190OMIM:616720Myasthenic syndrome, congenital, 19HP:0040283 - Occasional6
HP:0000301HP:0410011Abnormality of masticatory muscle2COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent6
HP:0000301HP:0010628Facial palsy2COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent6
HP:0000301HP:0010628Facial palsy2COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromes6
HP:0000301HP:0010628Facial palsy2COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0000301HP:0007209Facial paralysis2COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies.193
HP:0000301HP:0010628Facial palsy2COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1.442
HP:0000301HP:0010628Facial palsy2COL6A2 CL E G H12922212OMIM:255600Myosclerosis, autosomal recessive.478
HP:0000301HP:0010628Facial palsy2COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1.478
HP:0000301HP:0010628Facial palsy2COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1.702
HP:0000301HP:0010628Facial palsy2COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent90
HP:0000301HP:0010628Facial palsy2CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 1.24
HP:0000301HP:0010628Facial palsy2CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disability
HP:0000301HP:0010628Facial palsy2CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathy46
HP:0000301HP:0010628Facial palsy2DCTN1 CL E G H16392711OMIM:607641Neuronopathy, distal hereditary motor, type VIIB.86
HP:0000301HP:0010628Facial palsy2DES CL E G H16742770OMIM:601419Myopathy, myofibrillar, 1.263
HP:0000301HP:0010628Facial palsy2DLL4 CL E G H545672910ORPHA:1114Aplasia cutis congenitaHP:0040283 - Occasional9
HP:0000301HP:0010628Facial palsy2DMPK CL E G H17602933OMIM:160900Myotonic dystrophy 1152
HP:0000301HP:0010628Facial palsy2DNA2 CL E G H17632939OMIM:615156Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6.41
HP:0000301HP:0010628Facial palsy2DNAJB6 CL E G H1004914888OMIM:603511Muscular dystrophy, limb-girdle, type 1EHP:0040283 - Occasional103
HP:0000301HP:0010628Facial palsy2DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0000301HP:0410011Abnormality of masticatory muscle2DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent91
HP:0000301HP:0010628Facial palsy2DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent91
HP:0000301HP:0010628Facial palsy2DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional38
HP:0000301HP:0010628Facial palsy2EYA1 CL E G H21383519ORPHA:107BOR syndromeHP:0040283 - Occasional135
HP:0000301HP:0010628Facial palsy2EYA1 CL E G H21383519ORPHA:52429Branchiootic syndromeHP:0040283 - Occasional135
HP:0000301HP:0010628Facial palsy2EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1135
HP:0000301HP:0010628Facial palsy2FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional157
HP:0000301HP:0010628Facial palsy2FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disability157
HP:0000301HP:0010628Facial palsy2FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5.157
HP:0000301HP:0010628Facial palsy2FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disability184
HP:0000301HP:0010628Facial palsy2FRG1 CL E G H24833954OMIM:158900Facioscapulohumeral muscular dystrophy 1.1
HP:0000301HP:0010628Facial palsy2GAN CL E G H81394137ORPHA:643Giant axonal neuropathyHP:0040282 - Frequent121
HP:0000301HP:0010628Facial palsy2GAN CL E G H81394137OMIM:256850Giant axonal neuropathy 1, autosomal recessive.121
HP:0000301HP:0010628Facial palsy2GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional128
HP:0000301HP:0010628Facial palsy2GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.128
HP:0000301HP:0010628Facial palsy2GFPT1 CL E G H26734241OMIM:610542Myasthenic syndrome, congenital, with tubular aggregates 1.128
HP:0000301HP:3000010Abnormality of orbicularis oris muscle2GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040284 - Very rare
HP:0000301HP:0410011Abnormality of masticatory muscle2GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0000301HP:0010628Facial palsy2GJA1 CL E G H26974274ORPHA:1522Craniometaphyseal dysplasiaHP:0040283 - Occasional68
HP:0000301HP:0010628Facial palsy2GJA1 CL E G H26974274OMIM:218400Craniometaphyseal dysplasia, autosomal recessive.68
HP:0000301HP:0010628Facial palsy2GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 2.37
HP:0000301HP:0010628Facial palsy2GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease45
HP:0000301HP:0010628Facial palsy2GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional34
HP:0000301HP:0010628Facial palsy2GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional34
HP:0000301HP:0010628Facial palsy2GNE CL E G H1002023657ORPHA:602GNE myopathyHP:0040283 - Occasional173
HP:0000301HP:0010628Facial palsy2GSN CL E G H29344620ORPHA:85448AGel amyloidosisHP:0040282 - Frequent53
HP:0000301HP:0010628Facial palsy2HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0000301HP:0010628Facial palsy2HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040283 - Occasional2
HP:0000301HP:0010628Facial palsy2HOXB1 CL E G H32115111OMIM:614744Facial paresis, hereditary congenital, 3.2
HP:0000301HP:0410011Abnormality of masticatory muscle2IRF6 CL E G H36646121ORPHA:141291Cleft lip and alveolusHP:0040282 - Frequent99
HP:0000301HP:0010628Facial palsy2ITGB4 CL E G H36916158ORPHA:1114Aplasia cutis congenitaHP:0040283 - Occasional124
HP:0000301HP:0010628Facial palsy2KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathy80
HP:0000301HP:0010628Facial palsy2KIF1B CL E G H2309516636OMIM:118210Charcot-Marie-Tooth disease, axonal, type 2A1202
HP:0000301HP:0010628Facial palsy2KLHL40 CL E G H13137730372OMIM:615348NEMALINE MYOPATHY 8; NEM828
HP:0000301HP:0010628Facial palsy2KLHL40 CL E G H13137730372ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent28
HP:0000301HP:0010628Facial palsy2KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathy13
HP:0000301HP:0010628Facial palsy2KLHL41 CL E G H1032416905ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent13
HP:0000301HP:0010628Facial palsy2KLHL41 CL E G H1032416905ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent13
HP:0000301HP:0010628Facial palsy2KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent13
HP:0000301HP:0010628Facial palsy2KY CL E G H33985526576OMIM:617114MYOPATHY, MYOFIBRILLAR, 7; MFM73
HP:0000301HP:0010628Facial palsy2LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophyHP:0040282 - Frequent411
HP:0000301HP:0010628Facial palsy2LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent92
HP:0000301HP:0010628Facial palsy2LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional136
HP:0000301HP:0010628Facial palsy2LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6.136
HP:0000301HP:0010628Facial palsy2LMOD3 CL E G H562036649OMIM:616165Nemaline myopathy 10.11
HP:0000301HP:0010628Facial palsy2LMOD3 CL E G H562036649ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent11
HP:0000301HP:0010628Facial palsy2LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent11
HP:0000301HP:0010628Facial palsy2LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1.
HP:0000301HP:0410011Abnormality of masticatory muscle2LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent124
HP:0000301HP:0010628Facial palsy2LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent124
HP:0000301HP:0010628Facial palsy2LRP4 CL E G H40386696ORPHA:3152SclerosteosisHP:0040282 - Frequent124
HP:0000301HP:0010628Facial palsy2LRP4 CL E G H40386696OMIM:614305Sclerosteosis 2.124
HP:0000301HP:0010628Facial palsy2LRP5 CL E G H40416697ORPHA:2790Endosteal hyperostosis, Worth typeHP:0040283 - Occasional125
HP:0000301HP:0010628Facial palsy2LRP5 CL E G H40416697ORPHA:3416Hyperostosis corticalis generalisataHP:0040282 - Frequent125
HP:0000301HP:0010628Facial palsy2LRP5 CL E G H40416697ORPHA:178377Osteosclerosis-developmental delay-craniosynostosis syndromeHP:0040283 - Occasional125
HP:0000301HP:0010628Facial palsy2MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset.158
HP:0000301HP:0010628Facial palsy2MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 11.11
HP:0000301HP:0010628Facial palsy2MPZ CL E G H43597225OMIM:618184Neuropathy, congenital hypomyelinating, 2134
HP:0000301HP:0410011Abnormality of masticatory muscle2MSX1 CL E G H44877391ORPHA:141291Cleft lip and alveolusHP:0040282 - Frequent12
HP:0000301HP:0010628Facial palsy2MTM1 CL E G H45347448OMIM:310400Myopathy, centronuclear, X-linked.185
HP:0000301HP:0010628Facial palsy2MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0000301HP:0010628Facial palsy2MTMR2 CL E G H88987450OMIM:601382Charcot-Marie-Tooth disease, type 4B1.88
HP:0000301HP:0010628Facial palsy2MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7
HP:0000301HP:0007209Facial paralysis2MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7
HP:0000301HP:0010628Facial palsy2MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7
HP:0000301HP:0010628Facial palsy2MUSK CL E G H45937525OMIM:616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency.72
HP:0000301HP:0410011Abnormality of masticatory muscle2MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent72
HP:0000301HP:0010628Facial palsy2MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent72
HP:0000301HP:0012507Weakness of orbicularis oculi muscle2MYH7 CL E G H46257577ORPHA:59135Laing early-onset distal myopathyHP:0040282 - Frequent1269
HP:0000301HP:0010628Facial palsy2MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophyHP:0040283 - Occasional1269
HP:0000301HP:0010628Facial palsy2MYH7 CL E G H46257577OMIM:255310Myopathy, congenital, with fiber-type disproportion.1269
HP:0000301HP:0010628Facial palsy2MYH7 CL E G H46257577OMIM:160500Myopathy, distal, 1.1269
HP:0000301HP:0010628Facial palsy2MYL2 CL E G H46337583OMIM:619424MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12131
HP:0000301HP:0010628Facial palsy2MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040281 - Very frequent5
HP:0000301HP:0010628Facial palsy2MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome.5
HP:0000301HP:0010628Facial palsy2MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040281 - Very frequent
HP:0000301HP:0010628Facial palsy2MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromes
HP:0000301HP:0010628Facial palsy2MYPN CL E G H8466523246ORPHA:171881Cap myopathyHP:0040283 - Occasional217
HP:0000301HP:0010628Facial palsy2MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathy217
HP:0000301HP:0010628Facial palsy2MYPN CL E G H8466523246OMIM:617336Nemaline myopathy 11, autosomal recessive.217
HP:0000301HP:0010628Facial palsy2NARS2 CL E G H7973126274OMIM:616239Combined oxidative phosphorylation deficiency 24.34
HP:0000301HP:0010628Facial palsy2NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathy745
HP:0000301HP:0010628Facial palsy2NEB CL E G H47037720ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent745
HP:0000301HP:0010628Facial palsy2NEB CL E G H47037720ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent745
HP:0000301HP:0010628Facial palsy2NEB CL E G H47037720ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent745
HP:0000301HP:0410011Abnormality of masticatory muscle2NECTIN1 CL E G H58189706ORPHA:141291Cleft lip and alveolusHP:0040282 - Frequent4
HP:0000301HP:0010628Facial palsy2NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2EHP:0040283 - Occasional118
HP:0000301HP:0010628Facial palsy2NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040283 - Occasional220
HP:0000301HP:0010628Facial palsy2NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2HP:0040283 - Occasional220
HP:0000301HP:0007209Facial paralysis2NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 134
HP:0000301HP:0010628Facial palsy2NOD2 CL E G H641275331ORPHA:90340Blau syndromeHP:0040283 - Occasional187
HP:0000301HP:3000010Abnormality of orbicularis oris muscle2NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040284 - Very rare
HP:0000301HP:0410011Abnormality of masticatory muscle2NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathy
HP:0000301HP:0010628Facial palsy2OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 573
HP:0000301HP:0010628Facial palsy2PABPN1 CL E G H81068565OMIM:164300Oculopharyngeal muscular dystrophy.10
HP:0000301HP:0010628Facial palsy2PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040283 - Occasional9
HP:0000301HP:0010628Facial palsy2PEX1 CL E G H51898850ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional169
HP:0000301HP:0010628Facial palsy2PEX10 CL E G H51928851ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional75
HP:0000301HP:0010628Facial palsy2PEX11B CL E G H87998853ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional4
HP:0000301HP:0010628Facial palsy2PEX12 CL E G H51938854ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional65
HP:0000301HP:0010628Facial palsy2PEX13 CL E G H51948855ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional66
HP:0000301HP:0010628Facial palsy2PEX14 CL E G H51958856ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional46
HP:0000301HP:0010628Facial palsy2PEX16 CL E G H94098857ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional59
HP:0000301HP:0010628Facial palsy2PEX19 CL E G H58249713ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional62
HP:0000301HP:0010628Facial palsy2PEX2 CL E G H58289717ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional82
HP:0000301HP:0010628Facial palsy2PEX26 CL E G H5567022965ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional106
HP:0000301HP:0010628Facial palsy2PEX3 CL E G H85048858ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional47
HP:0000301HP:0010628Facial palsy2PEX5 CL E G H58309719ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional99
HP:0000301HP:0010628Facial palsy2PEX6 CL E G H51908859ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional98
HP:0000301HP:0010628Facial palsy2PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyria11
HP:0000301HP:0410011Abnormality of masticatory muscle2PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional11
HP:0000301HP:0010628Facial palsy2PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040283 - Occasional162
HP:0000301HP:0010628Facial palsy2PLEC CL E G H53399069ORPHA:1114Aplasia cutis congenitaHP:0040283 - Occasional759
HP:0000301HP:0010628Facial palsy2PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17759
HP:0000301HP:0010628Facial palsy2PLXND1 CL E G H231299107ORPHA:570Moebius syndromeHP:0040281 - Very frequent
HP:0000301HP:0010628Facial palsy2POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent464
HP:0000301HP:0010628Facial palsy2POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040282 - Frequent464
HP:0000301HP:0010628Facial palsy2POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0000301HP:0010628Facial palsy2POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive.464
HP:0000301HP:0010628Facial palsy2POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent45
HP:0000301HP:0010628Facial palsy2POLG2 CL E G H112329180OMIM:610131Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4.45
HP:0000301HP:0010628Facial palsy2POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional213
HP:0000301HP:0010628Facial palsy2POMT1 CL E G H105859202ORPHA:370980Congenital muscular dystrophy without intellectual disability213
HP:0000301HP:0010628Facial palsy2POMT1 CL E G H105859202OMIM:613155MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1.213
HP:0000301HP:0010628Facial palsy2POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional221
HP:0000301HP:0010628Facial palsy2POMT2 CL E G H2995419743OMIM:613156MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2.221
HP:0000301HP:0007209Facial paralysis2PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional94
HP:0000301HP:0010628Facial palsy2PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfismHP:0040282 - Frequent6
HP:0000301HP:0010628Facial palsy2PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic diseaseHP:0040282 - Frequent6
HP:0000301HP:0010628Facial palsy2PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0000301HP:0010628Facial palsy2RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent73
HP:0000301HP:0410011Abnormality of masticatory muscle2RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent73
HP:0000301HP:0010628Facial palsy2REV3L CL E G H59809968ORPHA:570Moebius syndromeHP:0040281 - Very frequent3
HP:0000301HP:0010628Facial palsy2RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent125
HP:0000301HP:0010628Facial palsy2RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent1200
HP:0000301HP:0010628Facial palsy2RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegiaHP:0040282 - Frequent1200
HP:0000301HP:0410011Abnormality of masticatory muscle2RYR1 CL E G H626110483ORPHA:423Malignant hyperthermia of anesthesia1200
HP:0000301HP:0010628Facial palsy2RYR1 CL E G H626110483OMIM:255320Minicore myopathy with external ophthalmoplegia.1200
HP:0000301HP:0010628Facial palsy2RYR1 CL E G H626110483ORPHA:178145Moderate multiminicore disease with hand involvementHP:0040282 - Frequent1200
HP:0000301HP:0010628Facial palsy2RYR1 CL E G H626110483OMIM:255310Myopathy, congenital, with fiber-type disproportion.1200
HP:0000301HP:0010628Facial palsy2SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome.86
HP:0000301HP:0007209Facial paralysis2SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional1053
HP:0000301HP:0410011Abnormality of masticatory muscle2SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent263
HP:0000301HP:0010628Facial palsy2SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent263
HP:0000301HP:0010628Facial palsy2SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect40
HP:0000301HP:0010628Facial palsy2SELENON CL E G H5719015999OMIM:255310Myopathy, congenital, with fiber-type disproportion.144
HP:0000301HP:0010628Facial palsy2SELENON CL E G H5719015999OMIM:602771Rigid spine muscular dystrophy 1.144
HP:0000301HP:0010628Facial palsy2SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040282 - Frequent16
HP:0000301HP:0010628Facial palsy2SGCD CL E G H644410807ORPHA:219Delta-sarcoglycan-related limb-girdle muscular dystrophy R6HP:0040282 - Frequent223
HP:0000301HP:0007209Facial paralysis2SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4C493
HP:0000301HP:0010628Facial palsy2SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C.493
HP:0000301HP:0010628Facial palsy2SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000301HP:0010628Facial palsy2SIX1 CL E G H649510887ORPHA:107BOR syndromeHP:0040283 - Occasional50
HP:0000301HP:0010628Facial palsy2SIX1 CL E G H649510887ORPHA:52429Branchiootic syndromeHP:0040283 - Occasional50
HP:0000301HP:0010628Facial palsy2SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 150
HP:0000301HP:0010628Facial palsy2SIX5 CL E G H14791210891ORPHA:107BOR syndromeHP:0040283 - Occasional10
HP:0000301HP:0010628Facial palsy2SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy163
HP:0000301HP:0010628Facial palsy2SLC18A3 CL E G H657210936OMIM:617239Myasthenic syndrome, congenital, 21, presynaptic.2
HP:0000301HP:0010628Facial palsy2SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0000301HP:0010628Facial palsy2SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0000301HP:0010628Facial palsy2SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromes28
HP:0000301HP:0010628Facial palsy2SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent68
HP:0000301HP:0010628Facial palsy2SLC25A4 CL E G H29110990OMIM:609283Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2.68
HP:0000301HP:0010628Facial palsy2SLC39A14 CL E G H2351620858OMIM:144755Hyperostosis cranialis interna.5
HP:0000301HP:0010628Facial palsy2SLC52A2 CL E G H7958130224OMIM:614707Brown-Vialetto-Van laere syndrome 2.47
HP:0000301HP:0010628Facial palsy2SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 1.51
HP:0000301HP:0010628Facial palsy2SLC52A3 CL E G H11327816187OMIM:211500Bulbar palsy, progressive, of childhood51
HP:0000301HP:0010628Facial palsy2SLC5A7 CL E G H6048214025OMIM:617143Myasthenic syndrome, congenital, 20, presynaptic.9
HP:0000301HP:0010628Facial palsy2SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromes9
HP:0000301HP:0010628Facial palsy2SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040283 - Occasional87
HP:0000301HP:0010628Facial palsy2SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040283 - Occasional47
HP:0000301HP:0010628Facial palsy2SMCHD1 CL E G H2334729090OMIM:158901FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2174
HP:0000301HP:0010628Facial palsy2SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040283 - Occasional22
HP:0000301HP:0010628Facial palsy2SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0000301HP:0010628Facial palsy2SNX10 CL E G H2988714974OMIM:615085Osteopetrosis, autosomal recessive 8.2
HP:0000301HP:0010628Facial palsy2SOST CL E G H5096413771OMIM:122860Craniodiaphyseal dysplasia, autosomal dominant26
HP:0000301HP:0010628Facial palsy2SOST CL E G H5096413771ORPHA:3416Hyperostosis corticalis generalisataHP:0040282 - Frequent26
HP:0000301HP:0010628Facial palsy2SOST CL E G H5096413771ORPHA:3152SclerosteosisHP:0040282 - Frequent26
HP:0000301HP:0010628Facial palsy2SOST CL E G H5096413771OMIM:269500Sclerosteosis 1.26
HP:0000301HP:0010628Facial palsy2SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent20
HP:0000301HP:0010628Facial palsy2SPEG CL E G H1029016901OMIM:615959Myopathy, centronuclear, 5.20
HP:0000301HP:0010628Facial palsy2SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness.3
HP:0000301HP:0010628Facial palsy2SQSTM1 CL E G H887811280OMIM:617158MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV62
HP:0000301HP:0410011Abnormality of masticatory muscle2SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional50
HP:0000301HP:0010628Facial palsy2SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyria50
HP:0000301HP:0010628Facial palsy2SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)66
HP:0000301HP:0010628Facial palsy2SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040283 - Occasional124
HP:0000301HP:0010628Facial palsy2SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000301HP:0010628Facial palsy2SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0000301HP:0010628Facial palsy2SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromes4
HP:0000301HP:0007209Facial paralysis2TCIRG1 CL E G H1031211647OMIM:259700Osteopetrosis, autosomal recessive 1.82
HP:0000301HP:0010628Facial palsy2TCIRG1 CL E G H1031211647OMIM:259700Osteopetrosis, autosomal recessive 1.82
HP:0000301HP:0010628Facial palsy2TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040283 - Occasional238
HP:0000301HP:0010628Facial palsy2TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0000301HP:0010628Facial palsy2TGFB1 CL E G H704011766ORPHA:1328Camurati-Engelmann diseaseHP:0040283 - Occasional13
HP:0000301HP:0010628Facial palsy2TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040282 - Frequent103
HP:0000301HP:0010628Facial palsy2TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type)103
HP:0000301HP:0010628Facial palsy2TK2 CL E G H708411831OMIM:617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3.103
HP:0000301HP:0007209Facial paralysis2TNFSF11 CL E G H860011926OMIM:259710Osteopetrosis, autosomal recessive 2.44
HP:0000301HP:0010628Facial palsy2TOR1A CL E G H18613098OMIM:128100Dystonia 1, torsion, autosomal dominant47
HP:0000301HP:0410011Abnormality of masticatory muscle2TP63 CL E G H862615979ORPHA:141291Cleft lip and alveolusHP:0040282 - Frequent140
HP:0000301HP:0010628Facial palsy2TPM2 CL E G H716912011ORPHA:171881Cap myopathyHP:0040283 - Occasional54
HP:0000301HP:0010628Facial palsy2TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathy54
HP:0000301HP:0010628Facial palsy2TPM2 CL E G H716912011OMIM:255310Myopathy, congenital, with fiber-type disproportion.54
HP:0000301HP:0010628Facial palsy2TPM2 CL E G H716912011OMIM:609285Nemaline myopathy 454
HP:0000301HP:0010628Facial palsy2TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent54
HP:0000301HP:0010628Facial palsy2TPM3 CL E G H717012012ORPHA:171881Cap myopathyHP:0040283 - Occasional108
HP:0000301HP:0010628Facial palsy2TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathy108
HP:0000301HP:0010628Facial palsy2TPM3 CL E G H717012012ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent108
HP:0000301HP:0010628Facial palsy2TPM3 CL E G H717012012OMIM:255310Myopathy, congenital, with fiber-type disproportion.108
HP:0000301HP:0010628Facial palsy2TPM3 CL E G H717012012OMIM:609284Nemaline myopathy 1108
HP:0000301HP:0010628Facial palsy2TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040283 - Occasional
HP:0000301HP:0010628Facial palsy2TRIM32 CL E G H2295416380OMIM:254110Muscular dystrophy, limb-girdle, type 2H.108
HP:0000301HP:0012507Weakness of orbicularis oculi muscle2TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitusHP:0040283 - Occasional
HP:0000301HP:0010628Facial palsy2TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy.214
HP:0000301HP:0010628Facial palsy2TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent7128
HP:0000301HP:0010628Facial palsy2TTN CL E G H727312403OMIM:611705Salih myopathy.7128
HP:0000301HP:0010628Facial palsy2TUBB3 CL E G H1038120772OMIM:600638Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvementHP:0040283 - Occasional64
HP:0000301HP:0010628Facial palsy2TUBB6 CL E G H8461720776OMIM:617732Facial palsy, congenital, with ptosis and velopharyngeal dysfunction.
HP:0000301HP:0010628Facial palsy2TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent113
HP:0000301HP:0010628Facial palsy2UBA1 CL E G H731712469OMIM:301830Spinal muscular atrophy, X-linked 2.35
HP:0000301HP:0010628Facial palsy2UBA2 CL E G H1005430661ORPHA:1114Aplasia cutis congenitaHP:0040283 - Occasional
HP:0000301HP:0010628Facial palsy2VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0000301HP:0010628Facial palsy2VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutation63
HP:0000301HP:0010628Facial palsy2VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1HP:0040283 - Occasional63
HP:0000301HP:0010628Facial palsy2XRCC2 CL E G H751612829OMIM:617247FANCONI ANEMIA, COMPLEMENTATION GROUP U125
HP:0000301HP:0010628Facial palsy2YME1L1 CL E G H1073012843OMIM:617302Optic atrophy 112
HP:0000301HP:0010628Facial palsy2ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome.19
HP:0000301HP:0010628Facial palsy2ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0000301HP:0010628Facial palsy2ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0000301HP:3000017Abnormality of temporalis muscle3 CL E G H
HP:0000301HP:3000006Abnormality of medial pterygoid muscle3 CL E G H
HP:0000301HP:3000068Abnormality of lateral pterygoid muscle3 CL E G H
HP:0000301HP:0001349Facial diplegia3ABCA1 CL E G H1929OMIM:205400Tangier disease.191
HP:0000301HP:0001349Facial diplegia3ABCA1 CL E G H1929ORPHA:31150Tangier diseaseHP:0040283 - Occasional191
HP:0000301HP:0001349Facial diplegia3ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional96
HP:0000301HP:0001349Facial diplegia3ACTA1 CL E G H58129ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional96
HP:0000301HP:0001349Facial diplegia3ACTA1 CL E G H58129ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional96
HP:0000301HP:0001349Facial diplegia3ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional96
HP:0000301HP:0001349Facial diplegia3ADCY6 CL E G H112237OMIM:616287Lethal congenital contracture syndrome 8.2
HP:0000301HP:0001349Facial diplegia3ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional88
HP:0000301HP:0004661Frontalis muscle weakness3AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent127
HP:0000301HP:0001349Facial diplegia3BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional99
HP:0000301HP:3000005Abnormality of masseter muscle3CACNA1S CL E G H7791397ORPHA:423Malignant hyperthermia of anesthesiaHP:0040283 - Occasional247
HP:0000301HP:0001349Facial diplegia3CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional35
HP:0000301HP:0004661Frontalis muscle weakness3CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent65
HP:0000301HP:0001349Facial diplegia3CNTNAP1 CL E G H85068011OMIM:616286Lethal congenital contracture syndrome 7.9
HP:0000301HP:0001349Facial diplegia3CNTNAP1 CL E G H85068011OMIM:618186Neuropathy, congenital hypomyelinating, 3.9
HP:0000301HP:0004661Frontalis muscle weakness3COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent6
HP:0000301HP:0001349Facial diplegia3COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0000301HP:0001349Facial diplegia3CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent
HP:0000301HP:0001349Facial diplegia3CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathyHP:0040283 - Occasional46
HP:0000301HP:0001349Facial diplegia3DMPK CL E G H17602933OMIM:160900Myotonic dystrophy 1.152
HP:0000301HP:0001349Facial diplegia3FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent157
HP:0000301HP:0001349Facial diplegia3FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent184
HP:0000301HP:3000005Abnormality of masseter muscle3GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040283 - Occasional
HP:0000301HP:0001349Facial diplegia3GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease.45
HP:0000301HP:0012799Unilateral facial palsy3HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0000301HP:0001349Facial diplegia3KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional80
HP:0000301HP:0001349Facial diplegia3KLHL40 CL E G H13137730372ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional28
HP:0000301HP:0001349Facial diplegia3KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional13
HP:0000301HP:0001349Facial diplegia3KLHL41 CL E G H1032416905ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional13
HP:0000301HP:0001349Facial diplegia3KLHL41 CL E G H1032416905ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional13
HP:0000301HP:0001349Facial diplegia3KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional13
HP:0000301HP:0001349Facial diplegia3LMOD3 CL E G H562036649ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional11
HP:0000301HP:0001349Facial diplegia3LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional11
HP:0000301HP:0001349Facial diplegia3MPZ CL E G H43597225OMIM:618184Neuropathy, congenital hypomyelinating, 2.134
HP:0000301HP:0001349Facial diplegia3MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040283 - Occasional
HP:0000301HP:0001349Facial diplegia3MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7.
HP:0000301HP:0004661Frontalis muscle weakness3MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent
HP:0000301HP:0001349Facial diplegia3MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional217
HP:0000301HP:0001349Facial diplegia3NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional745
HP:0000301HP:0001349Facial diplegia3NEB CL E G H47037720ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional745
HP:0000301HP:0001349Facial diplegia3NEB CL E G H47037720ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional745
HP:0000301HP:0001349Facial diplegia3NEB CL E G H47037720ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional745
HP:0000301HP:3000005Abnormality of masseter muscle3NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040283 - Occasional
HP:0000301HP:0001349Facial diplegia3PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional11
HP:0000301HP:0430025Bilateral facial palsy3PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17HP:0040283 - Occasional759
HP:0000301HP:0001349Facial diplegia3POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0000301HP:0001349Facial diplegia3POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional45
HP:0000301HP:0001349Facial diplegia3POMT1 CL E G H105859202ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent213
HP:0000301HP:0001349Facial diplegia3RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional125
HP:0000301HP:0001349Facial diplegia3RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional1200
HP:0000301HP:0001349Facial diplegia3RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegiaHP:0040283 - Occasional1200
HP:0000301HP:3000005Abnormality of masseter muscle3RYR1 CL E G H626110483ORPHA:423Malignant hyperthermia of anesthesiaHP:0040283 - Occasional1200
HP:0000301HP:0001349Facial diplegia3SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defectHP:0040282 - Frequent40
HP:0000301HP:0001349Facial diplegia3SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000301HP:0001349Facial diplegia3SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy.163
HP:0000301HP:0004661Frontalis muscle weakness3SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent2
HP:0000301HP:0004661Frontalis muscle weakness3SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent28
HP:0000301HP:0001349Facial diplegia3SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional68
HP:0000301HP:0001349Facial diplegia3SLC52A3 CL E G H11327816187OMIM:211500Bulbar palsy, progressive, of childhood.51
HP:0000301HP:0004661Frontalis muscle weakness3SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent9
HP:0000301HP:0004661Frontalis muscle weakness3SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent2
HP:0000301HP:0001349Facial diplegia3SOST CL E G H5096413771OMIM:122860Craniodiaphyseal dysplasia, autosomal dominant.26
HP:0000301HP:0001349Facial diplegia3SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional20
HP:0000301HP:0001349Facial diplegia3SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional50
HP:0000301HP:0001349Facial diplegia3SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria).66
HP:0000301HP:0012799Unilateral facial palsy3SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000301HP:0430025Bilateral facial palsy3SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0000301HP:0004661Frontalis muscle weakness3SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent4
HP:0000301HP:0001349Facial diplegia3TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type).103
HP:0000301HP:0001349Facial diplegia3TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional54
HP:0000301HP:0001349Facial diplegia3TPM2 CL E G H716912011OMIM:609285Nemaline myopathy 4.54
HP:0000301HP:0001349Facial diplegia3TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional54
HP:0000301HP:0001349Facial diplegia3TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional108
HP:0000301HP:0001349Facial diplegia3TPM3 CL E G H717012012ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional108
HP:0000301HP:0001349Facial diplegia3TPM3 CL E G H717012012OMIM:609284Nemaline myopathy 1.108
HP:0000301HP:0001349Facial diplegia3TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional7128
HP:0000301HP:0001349Facial diplegia3TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional113
HP:0000301HP:0004661Frontalis muscle weakness3VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent2
HP:0000301HP:0001349Facial diplegia3VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutationHP:0040283 - Occasional63
HP:0000301HP:0012799Unilateral facial palsy3XRCC2 CL E G H751612829OMIM:617247FANCONI ANEMIA, COMPLEMENTATION GROUP U125
HP:0000301HP:0001349Facial diplegia3YME1L1 CL E G H1073012843OMIM:617302Optic atrophy 11.2
HP:0000301HP:0001349Facial diplegia3ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0000301HP:0045085Atrophy of masseter muscle4 CL E G H
HP:0000301HP:0007188Congenital facial diplegia4COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0000301HP:0007188Congenital facial diplegia4ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis


Genes (323) :ABCA1 ABCD1 ACADS ACTA1 ACTN2 ADA2 ADCY5 ADCY6 ADGRG1 ADSS1 AGRN AK9 AKT1 ALG14 ALG2 ALS2 AMER1 AMPD2 ANKH ANO5 ANXA11 AP4B1 AP4E1 AP4M1 AP4S1 ASAH1 ASXL1 ATP13A2 ATP1A2 ATP1A3 ATP6AP2 ATXN1 BAG3 BAP1 BICRA BIN1 BMS1 BTNL2 CACNA1A CACNA1S CADM3 CAMK2G CAPN3 CC2D1A CFL2 CHAMP1 CHAT CHCHD10 CHD7 CHKB CHRNA1 CHRNB1 CHRND CHRNE CHRNG CLCF1 CLCN7 CLTC CNBP CNTNAP1 COL12A1 COL13A1 COL25A1 COL4A1 COL6A1 COL6A2 COL6A3 COLQ COX1 COX3 COX6A2 CRLF1 CRPPA CRYAB DBH DCTN1 DDHD2 DES DLL4 DMPK DNA2 DNAJB6 DNAJC13 DNAJC6 DNM1L DNM2 DNMT3B DOK7 DPAGT1 DSE DYNC1H1 EBF3 EIF4G1 EYA1 FBXO7 FKRP FKTN FLNC FRG1 FTL GAA GAN GBA1 GDAP1 GFPT1 GIGYF2 GIPC1 GJA1 GJC2 GLE1 GMPPB GNE GPC3 GPC4 GRIA3 GSN HACD1 HERC1 HK1 HLA-DRB1 HOXB1 IRF2BPL IRF6 ITGA7 ITGB4 JAG2 JAM2 KBTBD13 KCNK4 KCNK9 KDM4B KDM5C KIF1B KLHL40 KLHL41 KY LAMA2 LAMB2 LARGE1 LGI3 LMOD3 LPIN1 LRIF1 LRP12 LRP4 LRP5 LRRK2 MAN2B1 MAP3K20 MECP2 MEGF10 MGME1 MPZ MSTO1 MSX1 MTM1 MTMR14 MTMR2 MTRFR MUSK MYH7 MYL1 MYL2 MYMK MYMX MYO9A MYOT MYPN NARS2 NEB NECTIN1 NEFL NF2 NFU1 NGLY1 NOD2 NOTCH2NLC NUTM2B-AS1 OGDHL OPA1 OSTM1 PABPN1 PAX7 PCGF2 PDGFB PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PI4KA PIK3CA PLA2G6 PLAA PLEC PLXND1 PNPT1 PODXL POGZ POLG POLG2 POMT1 POMT2 POU3F3 PPP2R1A PPP2R2B PPP2R5D PRDX3 PRKCG PRRT2 PTDSS1 PTRH2 PUF60 PURA RAB11B RAPSN REV3L RILPL1 RNASEH1 RRM2B RYR1 SALL4 SATB2 SBF2 SCN1A SCN4A SCO2 SELENON SEMA3E SET SF3B2 SGCD SH3TC2 SHMT2 SIX1 SIX5 SLC12A6 SLC18A2 SLC18A3 SLC19A3 SLC1A3 SLC25A1 SLC25A21 SLC25A4 SLC25A42 SLC30A10 SLC30A9 SLC39A14 SLC52A2 SLC52A3 SLC5A7 SLC6A3 SMARCB1 SMARCE1 SMCHD1 SMO SNAP25 SNCA SNX10 SOST SPEG SPR SPTBN2 SPTBN4 SQSTM1 SRPX2 STAG2 STRADA SUCLA2 SUFU SUPT16H SURF1 SYNE1 SYNJ1 SYT2 TCIRG1 TECPR2 TERT TET3 TFAP2A TGFB1 TK2 TNFSF11 TOR1A TP63 TPM2 TPM3 TRAF7 TREX1 TRIM32 TRNE TRNN TRNS1 TRPV4 TTN TUBB3 TUBB6 TWNK TXNL4A UBA1 UBA2 UNC80 VAMP1 VCP VPS13B VPS35 XRCC2 XYLT2 YARS1 YME1L1 YY1 ZBTB11 ZC4H2 ZFHX4 ZMIZ1

Diseases (336) :OMIM:205400 ORPHA:31150 ORPHA:139396 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:606703 ORPHA:324588 OMIM:616287 ORPHA:98889 ORPHA:482601 OMIM:617030 OMIM:615120 ORPHA:98913 ORPHA:98914 ORPHA:2495 ORPHA:353327 OMIM:205100 OMIM:606353 OMIM:300373 ORPHA:2780 OMIM:615809 ORPHA:1522 OMIM:123000 ORPHA:206549 OMIM:611307 OMIM:619733 ORPHA:280763 OMIM:613744 OMIM:614067 OMIM:159950 ORPHA:97297 ORPHA:513436 ORPHA:306674 ORPHA:2131 ORPHA:569 OMIM:128235 ORPHA:71517 OMIM:300423 OMIM:300911 ORPHA:93952 ORPHA:98755 OMIM:612954 OMIM:619325 ORPHA:169186 OMIM:255200 ORPHA:1114 ORPHA:797 OMIM:612387 ORPHA:423 OMIM:619519 OMIM:618522 OMIM:253600 OMIM:608443 OMIM:610687 OMIM:616579 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:617854 OMIM:602668 OMIM:616286 OMIM:618186 ORPHA:536516 OMIM:616470 OMIM:616720 ORPHA:91411 OMIM:175780 OMIM:254090 OMIM:255600 ORPHA:98915 ORPHA:99845 OMIM:619062 OMIM:272430 ORPHA:370980 ORPHA:399058 OMIM:223360 OMIM:607641 OMIM:615033 ORPHA:98909 OMIM:601419 ORPHA:589821 OMIM:160900 OMIM:615156 OMIM:603511 ORPHA:411602 ORPHA:391411 OMIM:615528 ORPHA:98673 OMIM:160150 OMIM:619478 OMIM:254300 OMIM:615539 OMIM:614563 OMIM:617330 ORPHA:107 ORPHA:52429 OMIM:113650 OMIM:260300 ORPHA:171695 ORPHA:370968 OMIM:606612 ORPHA:63273 OMIM:158900 OMIM:606159 ORPHA:157846 ORPHA:308552 ORPHA:643 OMIM:256850 ORPHA:99948 OMIM:610542 ORPHA:98897 OMIM:618940 OMIM:218400 OMIM:608804 OMIM:611890 ORPHA:602 OMIM:312870 ORPHA:364028 ORPHA:85448 OMIM:619967 ORPHA:457359 OMIM:618547 OMIM:614744 OMIM:618088 ORPHA:141291 OMIM:619566 OMIM:618824 OMIM:618381 ORPHA:166108 OMIM:619320 OMIM:300534 OMIM:118210 OMIM:615348 OMIM:617114 ORPHA:258 OMIM:608840 OMIM:620007 OMIM:616165 OMIM:619477 OMIM:164310 ORPHA:3152 OMIM:614305 ORPHA:2790 ORPHA:3416 ORPHA:178377 ORPHA:309282 OMIM:300260 OMIM:300055 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 ORPHA:1358 OMIM:254940 OMIM:619941 ORPHA:266 ORPHA:171881 OMIM:617336 OMIM:616239 ORPHA:399103 OMIM:256030 ORPHA:101085 OMIM:607684 ORPHA:637 OMIM:605711 ORPHA:404454 OMIM:615273 ORPHA:90340 OMIM:619473 OMIM:618637 OMIM:619701 OMIM:259720 OMIM:164300 OMIM:618578 OMIM:618371 ORPHA:772 ORPHA:199351 OMIM:612953 OMIM:617527 ORPHA:254361 ORPHA:570 OMIM:608703 ORPHA:101111 ORPHA:468678 OMIM:616364 ORPHA:254892 ORPHA:254886 OMIM:157640 OMIM:258450 OMIM:607459 OMIM:610131 OMIM:613155 OMIM:613156 OMIM:618604 OMIM:616362 ORPHA:457284 OMIM:604326 OMIM:616355 OMIM:619862 OMIM:605361 ORPHA:2658 ORPHA:456312 ORPHA:508498 ORPHA:438216 OMIM:617807 OMIM:619790 ORPHA:329336 OMIM:117000 ORPHA:98905 OMIM:619542 OMIM:255320 ORPHA:178145 OMIM:607323 OMIM:612313 ORPHA:99956 ORPHA:99734 ORPHA:684 ORPHA:521411 OMIM:602771 OMIM:618106 OMIM:164210 ORPHA:219 ORPHA:99949 OMIM:601596 OMIM:619121 OMIM:218000 ORPHA:352649 OMIM:618049 OMIM:617239 OMIM:607483 OMIM:618811 OMIM:609283 OMIM:618416 ORPHA:309854 OMIM:617595 ORPHA:521406 OMIM:617013 OMIM:144755 OMIM:614707 OMIM:211530 OMIM:211500 OMIM:617143 ORPHA:238455 OMIM:613135 OMIM:158901 OMIM:615085 OMIM:122860 OMIM:269500 OMIM:615959 ORPHA:70594 OMIM:600224 OMIM:617519 OMIM:617158 ORPHA:521258 OMIM:611087 ORPHA:500533 OMIM:612073 OMIM:619480 OMIM:220110 OMIM:618484 ORPHA:319332 OMIM:619461 OMIM:259700 ORPHA:320385 OMIM:615031 OMIM:618798 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 OMIM:608572 ORPHA:1145 OMIM:301830 OMIM:616801 ORPHA:329478 OMIM:167320 OMIM:216550 OMIM:617247 ORPHA:85194 OMIM:619418 OMIM:617302 OMIM:617557 ORPHA:506358 OMIM:618383 OMIM:314580 OMIM:301041 OMIM:618659
 

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