Human Phenotype Ontology 
Grandparent Node:
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Abnormality of facial musculature (HP:0000301)help
Parent Node:
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Abnormality of the seventh cranial nerve (HP:0010827)help
Parent Node:
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Cranial nerve paralysis (HP:0006824)help
Parent Node:
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Muscle weakness (HP:0001324)help
Parent Node:
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Weakness of facial musculature (HP:0030319)help
..Starting node
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Facial palsy (HP:0010628)help
Term ID: 10628
Name: Facial palsy
Synonym: Bell's palsy; Cranial nerve VII palsy; Facial muscle weakness of muscles innervated by CN VII; Facial nerve palsy; Facial nerve paralysis; Facial palsy, unilateral or bilateral; Seventh cranial nerve palsy; VII th cranial nerve palsy
Definition: Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
Comments:
Reference: HP:0010628
Genes and Diseases:
 
       Child Nodes:
........expandFacial diplegia (HP:0001349) help
................... HP:0007188 Congenital facial diplegia
........expandFrontalis muscle weakness (HP:0004661) help
........expandUnilateral facial palsy (HP:0012799) help
........expandBilateral facial palsy (HP:0430025) help

 Sister Nodes: 
..expandFacial paralysis (HP:0007209) help
..expandWeakness of orbicularis oculi muscle (HP:0012507) 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:0010628HP:0010628Facial palsy0ABCA1 CL E G H1929ORPHA:31150Tangier disease191
HP:0010628HP:0010628Facial palsy0ABCA1 CL E G H1929OMIM:205400Tangier disease191
HP:0010628HP:0010628Facial palsy0ACADS CL E G H3590OMIM:201470Acyl-Coa dehydrogenase, short-chain, deficiency of.90
HP:0010628HP:0010628Facial palsy0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathy96
HP:0010628HP:0010628Facial palsy0ACTA1 CL E G H58129ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent96
HP:0010628HP:0010628Facial palsy0ACTA1 CL E G H58129OMIM:255310Myopathy, congenital, with fiber-type disproportion.96
HP:0010628HP:0010628Facial palsy0ACTA1 CL E G H58129OMIM:616852Myopathy, scapulohumeroperoneal96
HP:0010628HP:0010628Facial palsy0ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 3.96
HP:0010628HP:0010628Facial palsy0ACTA1 CL E G H58129ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent96
HP:0010628HP:0010628Facial palsy0ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent96
HP:0010628HP:0010628Facial palsy0ACTA1 CL E G H58129ORPHA:97240Zebra body myopathyHP:0040281 - Very frequent96
HP:0010628HP:0010628Facial palsy0ADA2 CL E G H518161839OMIM:182410Sneddon syndrome.22
HP:0010628HP:0010628Facial palsy0ADCY6 CL E G H112237OMIM:616287Lethal congenital contracture syndrome 82
HP:0010628HP:0010628Facial palsy0ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyria88
HP:0010628HP:0010628Facial palsy0ADSS1 CL E G H12262220093OMIM:617030Myopathy, distal, 5.
HP:0010628HP:0010628Facial palsy0AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent127
HP:0010628HP:0010628Facial palsy0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromes127
HP:0010628HP:0010628Facial palsy0AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent1
HP:0010628HP:0010628Facial palsy0AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040283 - Occasional54
HP:0010628HP:0010628Facial palsy0ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional12
HP:0010628HP:0010628Facial palsy0ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional46
HP:0010628HP:0010628Facial palsy0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis.34
HP:0010628HP:0010628Facial palsy0AMER1 CL E G H13928526837ORPHA:2780Osteopathia striata-cranial sclerosis syndromeHP:0040283 - Occasional34
HP:0010628HP:0010628Facial palsy0ANKH CL E G H5617215492ORPHA:1522Craniometaphyseal dysplasiaHP:0040283 - Occasional164
HP:0010628HP:0010628Facial palsy0ANKH CL E G H5617215492OMIM:123000Craniometaphyseal dysplasia, autosomal dominant.164
HP:0010628HP:0010628Facial palsy0ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12HP:0040283 - Occasional304
HP:0010628HP:0010628Facial palsy0ANO5 CL E G H20385927337OMIM:611307Muscular dystrophy, limb-girdle, type 2L.304
HP:0010628HP:0010628Facial palsy0ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy.78
HP:0010628HP:0010628Facial palsy0BAG3 CL E G H9531939OMIM:612954Myopathy, myofibrillar, 6.204
HP:0010628HP:0010628Facial palsy0BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040283 - Occasional184
HP:0010628HP:0010628Facial palsy0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0010628HP:0010628Facial palsy0BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent99
HP:0010628HP:0010628Facial palsy0BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 2.99
HP:0010628HP:0010628Facial palsy0BMS1 CL E G H979023505ORPHA:1114Aplasia cutis congenitaHP:0040283 - Occasional1
HP:0010628HP:0010628Facial palsy0BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040283 - Occasional1
HP:0010628HP:0010628Facial palsy0BTNL2 CL E G H562441142OMIM:612387Sarcoidosis, susceptibility to, 2.1
HP:0010628HP:0010628Facial palsy0CAPN3 CL E G H8251480OMIM:253600Muscular dystrophy, limb-girdle, type 2AHP:0040283 - Occasional323
HP:0010628HP:0010628Facial palsy0CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent35
HP:0010628HP:0010628Facial palsy0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromes65
HP:0010628HP:0010628Facial palsy0CHCHD10 CL E G H40091615559OMIM:616209Myopathy, isolated mitochondrial, autosomal dominant.11
HP:0010628HP:0010628Facial palsy0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040282 - Frequent515
HP:0010628HP:0010628Facial palsy0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0010628HP:0010628Facial palsy0CHKB CL E G H11201938OMIM:602541Muscular dystrophy, congenital, Megaconial type.53
HP:0010628HP:0010628Facial palsy0CHRNA1 CL E G H11341955OMIM:608930Myasthenic syndrome, congenital, 1B, fast-channel.74
HP:0010628HP:0010628Facial palsy0CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent74
HP:0010628HP:0010628Facial palsy0CHRNB1 CL E G H11401961OMIM:616313Myasthenic syndrome, congenital, 2A, slow-channel.53
HP:0010628HP:0010628Facial palsy0CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent53
HP:0010628HP:0010628Facial palsy0CHRND CL E G H11441965OMIM:616322Myasthenic syndrome, congenital, 3B, fast-channel.88
HP:0010628HP:0010628Facial palsy0CHRND CL E G H11441965OMIM:616323Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency.88
HP:0010628HP:0010628Facial palsy0CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent88
HP:0010628HP:0010628Facial palsy0CHRNE CL E G H11451966OMIM:616324Myasthenic syndrome, congenital, 4B, fast-channel.139
HP:0010628HP:0010628Facial palsy0CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.139
HP:0010628HP:0010628Facial palsy0CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent139
HP:0010628HP:0010628Facial palsy0CLCN7 CL E G H11862025ORPHA:53Albers-Schönberg osteopetrosisHP:0040281 - Very frequent102
HP:0010628HP:0010628Facial palsy0CLCN7 CL E G H11862025OMIM:166600Osteopetrosis, autosomal dominant 2.102
HP:0010628HP:0010628Facial palsy0CLCN7 CL E G H11862025OMIM:611490Osteopetrosis, autosomal recessive 4.102
HP:0010628HP:0010628Facial palsy0CNTNAP1 CL E G H85068011OMIM:616286Lethal congenital contracture syndrome 79
HP:0010628HP:0010628Facial palsy0CNTNAP1 CL E G H85068011OMIM:618186Neuropathy, congenital hypomyelinating, 39
HP:0010628HP:0010628Facial palsy0COL12A1 CL E G H13032188OMIM:616470ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD265
HP:0010628HP:0010628Facial palsy0COL13A1 CL E G H13052190OMIM:616720Myasthenic syndrome, congenital, 19HP:0040283 - Occasional6
HP:0010628HP:0010628Facial palsy0COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent6
HP:0010628HP:0010628Facial palsy0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromes6
HP:0010628HP:0010628Facial palsy0COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0010628HP:0010628Facial palsy0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1.442
HP:0010628HP:0010628Facial palsy0COL6A2 CL E G H12922212OMIM:255600Myosclerosis, autosomal recessive.478
HP:0010628HP:0010628Facial palsy0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1.478
HP:0010628HP:0010628Facial palsy0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1.702
HP:0010628HP:0010628Facial palsy0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent90
HP:0010628HP:0010628Facial palsy0CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 1.24
HP:0010628HP:0010628Facial palsy0CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disability
HP:0010628HP:0010628Facial palsy0CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathy46
HP:0010628HP:0010628Facial palsy0DCTN1 CL E G H16392711OMIM:607641Neuronopathy, distal hereditary motor, type VIIB.86
HP:0010628HP:0010628Facial palsy0DES CL E G H16742770OMIM:601419Myopathy, myofibrillar, 1.263
HP:0010628HP:0010628Facial palsy0DLL4 CL E G H545672910ORPHA:1114Aplasia cutis congenitaHP:0040283 - Occasional9
HP:0010628HP:0010628Facial palsy0DMPK CL E G H17602933OMIM:160900Myotonic dystrophy 1152
HP:0010628HP:0010628Facial palsy0DNA2 CL E G H17632939OMIM:615156Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6.41
HP:0010628HP:0010628Facial palsy0DNAJB6 CL E G H1004914888OMIM:603511Muscular dystrophy, limb-girdle, type 1EHP:0040283 - Occasional103
HP:0010628HP:0010628Facial palsy0DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0010628HP:0010628Facial palsy0DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent91
HP:0010628HP:0010628Facial palsy0DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional38
HP:0010628HP:0010628Facial palsy0EYA1 CL E G H21383519ORPHA:107BOR syndromeHP:0040283 - Occasional135
HP:0010628HP:0010628Facial palsy0EYA1 CL E G H21383519ORPHA:52429Branchiootic syndromeHP:0040283 - Occasional135
HP:0010628HP:0010628Facial palsy0EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1135
HP:0010628HP:0010628Facial palsy0FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional157
HP:0010628HP:0010628Facial palsy0FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disability157
HP:0010628HP:0010628Facial palsy0FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5.157
HP:0010628HP:0010628Facial palsy0FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disability184
HP:0010628HP:0010628Facial palsy0FRG1 CL E G H24833954OMIM:158900Facioscapulohumeral muscular dystrophy 1.1
HP:0010628HP:0010628Facial palsy0GAN CL E G H81394137ORPHA:643Giant axonal neuropathyHP:0040282 - Frequent121
HP:0010628HP:0010628Facial palsy0GAN CL E G H81394137OMIM:256850Giant axonal neuropathy 1, autosomal recessive.121
HP:0010628HP:0010628Facial palsy0GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional128
HP:0010628HP:0010628Facial palsy0GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.128
HP:0010628HP:0010628Facial palsy0GFPT1 CL E G H26734241OMIM:610542Myasthenic syndrome, congenital, with tubular aggregates 1.128
HP:0010628HP:0010628Facial palsy0GJA1 CL E G H26974274ORPHA:1522Craniometaphyseal dysplasiaHP:0040283 - Occasional68
HP:0010628HP:0010628Facial palsy0GJA1 CL E G H26974274OMIM:218400Craniometaphyseal dysplasia, autosomal recessive.68
HP:0010628HP:0010628Facial palsy0GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 2.37
HP:0010628HP:0010628Facial palsy0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease45
HP:0010628HP:0010628Facial palsy0GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional34
HP:0010628HP:0010628Facial palsy0GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional34
HP:0010628HP:0010628Facial palsy0GNE CL E G H1002023657ORPHA:602GNE myopathyHP:0040283 - Occasional173
HP:0010628HP:0010628Facial palsy0GSN CL E G H29344620ORPHA:85448AGel amyloidosisHP:0040282 - Frequent53
HP:0010628HP:0010628Facial palsy0HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0010628HP:0010628Facial palsy0HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040283 - Occasional2
HP:0010628HP:0010628Facial palsy0HOXB1 CL E G H32115111OMIM:614744Facial paresis, hereditary congenital, 3.2
HP:0010628HP:0010628Facial palsy0ITGB4 CL E G H36916158ORPHA:1114Aplasia cutis congenitaHP:0040283 - Occasional124
HP:0010628HP:0010628Facial palsy0KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathy80
HP:0010628HP:0010628Facial palsy0KIF1B CL E G H2309516636OMIM:118210Charcot-Marie-Tooth disease, axonal, type 2A1202
HP:0010628HP:0010628Facial palsy0KLHL40 CL E G H13137730372OMIM:615348NEMALINE MYOPATHY 8; NEM828
HP:0010628HP:0010628Facial palsy0KLHL40 CL E G H13137730372ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent28
HP:0010628HP:0010628Facial palsy0KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathy13
HP:0010628HP:0010628Facial palsy0KLHL41 CL E G H1032416905ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent13
HP:0010628HP:0010628Facial palsy0KLHL41 CL E G H1032416905ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent13
HP:0010628HP:0010628Facial palsy0KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent13
HP:0010628HP:0010628Facial palsy0KY CL E G H33985526576OMIM:617114MYOPATHY, MYOFIBRILLAR, 7; MFM73
HP:0010628HP:0010628Facial palsy0LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophyHP:0040282 - Frequent411
HP:0010628HP:0010628Facial palsy0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent92
HP:0010628HP:0010628Facial palsy0LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional136
HP:0010628HP:0010628Facial palsy0LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6.136
HP:0010628HP:0010628Facial palsy0LMOD3 CL E G H562036649OMIM:616165Nemaline myopathy 10.11
HP:0010628HP:0010628Facial palsy0LMOD3 CL E G H562036649ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent11
HP:0010628HP:0010628Facial palsy0LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent11
HP:0010628HP:0010628Facial palsy0LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1.
HP:0010628HP:0010628Facial palsy0LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent124
HP:0010628HP:0010628Facial palsy0LRP4 CL E G H40386696ORPHA:3152SclerosteosisHP:0040282 - Frequent124
HP:0010628HP:0010628Facial palsy0LRP4 CL E G H40386696OMIM:614305Sclerosteosis 2.124
HP:0010628HP:0010628Facial palsy0LRP5 CL E G H40416697ORPHA:2790Endosteal hyperostosis, Worth typeHP:0040283 - Occasional125
HP:0010628HP:0010628Facial palsy0LRP5 CL E G H40416697ORPHA:3416Hyperostosis corticalis generalisataHP:0040282 - Frequent125
HP:0010628HP:0010628Facial palsy0LRP5 CL E G H40416697ORPHA:178377Osteosclerosis-developmental delay-craniosynostosis syndromeHP:0040283 - Occasional125
HP:0010628HP:0010628Facial palsy0MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset.158
HP:0010628HP:0010628Facial palsy0MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 11.11
HP:0010628HP:0010628Facial palsy0MPZ CL E G H43597225OMIM:618184Neuropathy, congenital hypomyelinating, 2134
HP:0010628HP:0010628Facial palsy0MTM1 CL E G H45347448OMIM:310400Myopathy, centronuclear, X-linked.185
HP:0010628HP:0010628Facial palsy0MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0010628HP:0010628Facial palsy0MTMR2 CL E G H88987450OMIM:601382Charcot-Marie-Tooth disease, type 4B1.88
HP:0010628HP:0010628Facial palsy0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7
HP:0010628HP:0010628Facial palsy0MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7
HP:0010628HP:0010628Facial palsy0MUSK CL E G H45937525OMIM:616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency.72
HP:0010628HP:0010628Facial palsy0MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent72
HP:0010628HP:0010628Facial palsy0MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophyHP:0040283 - Occasional1269
HP:0010628HP:0010628Facial palsy0MYH7 CL E G H46257577OMIM:255310Myopathy, congenital, with fiber-type disproportion.1269
HP:0010628HP:0010628Facial palsy0MYH7 CL E G H46257577OMIM:160500Myopathy, distal, 1.1269
HP:0010628HP:0010628Facial palsy0MYL2 CL E G H46337583OMIM:619424MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12131
HP:0010628HP:0010628Facial palsy0MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome.5
HP:0010628HP:0010628Facial palsy0MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040281 - Very frequent5
HP:0010628HP:0010628Facial palsy0MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040281 - Very frequent
HP:0010628HP:0010628Facial palsy0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromes
HP:0010628HP:0010628Facial palsy0MYPN CL E G H8466523246ORPHA:171881Cap myopathyHP:0040283 - Occasional217
HP:0010628HP:0010628Facial palsy0MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathy217
HP:0010628HP:0010628Facial palsy0MYPN CL E G H8466523246OMIM:617336Nemaline myopathy 11, autosomal recessive.217
HP:0010628HP:0010628Facial palsy0NARS2 CL E G H7973126274OMIM:616239Combined oxidative phosphorylation deficiency 24.34
HP:0010628HP:0010628Facial palsy0NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathy745
HP:0010628HP:0010628Facial palsy0NEB CL E G H47037720ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent745
HP:0010628HP:0010628Facial palsy0NEB CL E G H47037720ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent745
HP:0010628HP:0010628Facial palsy0NEB CL E G H47037720ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent745
HP:0010628HP:0010628Facial palsy0NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2EHP:0040283 - Occasional118
HP:0010628HP:0010628Facial palsy0NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040283 - Occasional220
HP:0010628HP:0010628Facial palsy0NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2HP:0040283 - Occasional220
HP:0010628HP:0010628Facial palsy0NOD2 CL E G H641275331ORPHA:90340Blau syndromeHP:0040283 - Occasional187
HP:0010628HP:0010628Facial palsy0OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 573
HP:0010628HP:0010628Facial palsy0PABPN1 CL E G H81068565OMIM:164300Oculopharyngeal muscular dystrophy.10
HP:0010628HP:0010628Facial palsy0PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040283 - Occasional9
HP:0010628HP:0010628Facial palsy0PEX1 CL E G H51898850ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional169
HP:0010628HP:0010628Facial palsy0PEX10 CL E G H51928851ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional75
HP:0010628HP:0010628Facial palsy0PEX11B CL E G H87998853ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional4
HP:0010628HP:0010628Facial palsy0PEX12 CL E G H51938854ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional65
HP:0010628HP:0010628Facial palsy0PEX13 CL E G H51948855ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional66
HP:0010628HP:0010628Facial palsy0PEX14 CL E G H51958856ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional46
HP:0010628HP:0010628Facial palsy0PEX16 CL E G H94098857ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional59
HP:0010628HP:0010628Facial palsy0PEX19 CL E G H58249713ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional62
HP:0010628HP:0010628Facial palsy0PEX2 CL E G H58289717ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional82
HP:0010628HP:0010628Facial palsy0PEX26 CL E G H5567022965ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional106
HP:0010628HP:0010628Facial palsy0PEX3 CL E G H85048858ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional47
HP:0010628HP:0010628Facial palsy0PEX5 CL E G H58309719ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional99
HP:0010628HP:0010628Facial palsy0PEX6 CL E G H51908859ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional98
HP:0010628HP:0010628Facial palsy0PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyria11
HP:0010628HP:0010628Facial palsy0PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040283 - Occasional162
HP:0010628HP:0010628Facial palsy0PLEC CL E G H53399069ORPHA:1114Aplasia cutis congenitaHP:0040283 - Occasional759
HP:0010628HP:0010628Facial palsy0PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17759
HP:0010628HP:0010628Facial palsy0PLXND1 CL E G H231299107ORPHA:570Moebius syndromeHP:0040281 - Very frequent
HP:0010628HP:0010628Facial palsy0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent464
HP:0010628HP:0010628Facial palsy0POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040282 - Frequent464
HP:0010628HP:0010628Facial palsy0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0010628HP:0010628Facial palsy0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive.464
HP:0010628HP:0010628Facial palsy0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent45
HP:0010628HP:0010628Facial palsy0POLG2 CL E G H112329180OMIM:610131Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4.45
HP:0010628HP:0010628Facial palsy0POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional213
HP:0010628HP:0010628Facial palsy0POMT1 CL E G H105859202ORPHA:370980Congenital muscular dystrophy without intellectual disability213
HP:0010628HP:0010628Facial palsy0POMT1 CL E G H105859202OMIM:613155MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1.213
HP:0010628HP:0010628Facial palsy0POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional221
HP:0010628HP:0010628Facial palsy0POMT2 CL E G H2995419743OMIM:613156MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2.221
HP:0010628HP:0010628Facial palsy0PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfismHP:0040282 - Frequent6
HP:0010628HP:0010628Facial palsy0PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic diseaseHP:0040282 - Frequent6
HP:0010628HP:0010628Facial palsy0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0010628HP:0010628Facial palsy0RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent73
HP:0010628HP:0010628Facial palsy0REV3L CL E G H59809968ORPHA:570Moebius syndromeHP:0040281 - Very frequent3
HP:0010628HP:0010628Facial palsy0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent125
HP:0010628HP:0010628Facial palsy0RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent1200
HP:0010628HP:0010628Facial palsy0RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegiaHP:0040282 - Frequent1200
HP:0010628HP:0010628Facial palsy0RYR1 CL E G H626110483OMIM:255320Minicore myopathy with external ophthalmoplegia.1200
HP:0010628HP:0010628Facial palsy0RYR1 CL E G H626110483ORPHA:178145Moderate multiminicore disease with hand involvementHP:0040282 - Frequent1200
HP:0010628HP:0010628Facial palsy0RYR1 CL E G H626110483OMIM:255310Myopathy, congenital, with fiber-type disproportion.1200
HP:0010628HP:0010628Facial palsy0SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome.86
HP:0010628HP:0010628Facial palsy0SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent263
HP:0010628HP:0010628Facial palsy0SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect40
HP:0010628HP:0010628Facial palsy0SELENON CL E G H5719015999OMIM:255310Myopathy, congenital, with fiber-type disproportion.144
HP:0010628HP:0010628Facial palsy0SELENON CL E G H5719015999OMIM:602771Rigid spine muscular dystrophy 1.144
HP:0010628HP:0010628Facial palsy0SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040282 - Frequent16
HP:0010628HP:0010628Facial palsy0SGCD CL E G H644410807ORPHA:219Delta-sarcoglycan-related limb-girdle muscular dystrophy R6HP:0040282 - Frequent223
HP:0010628HP:0010628Facial palsy0SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C.493
HP:0010628HP:0010628Facial palsy0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0010628HP:0010628Facial palsy0SIX1 CL E G H649510887ORPHA:107BOR syndromeHP:0040283 - Occasional50
HP:0010628HP:0010628Facial palsy0SIX1 CL E G H649510887ORPHA:52429Branchiootic syndromeHP:0040283 - Occasional50
HP:0010628HP:0010628Facial palsy0SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 150
HP:0010628HP:0010628Facial palsy0SIX5 CL E G H14791210891ORPHA:107BOR syndromeHP:0040283 - Occasional10
HP:0010628HP:0010628Facial palsy0SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy163
HP:0010628HP:0010628Facial palsy0SLC18A3 CL E G H657210936OMIM:617239Myasthenic syndrome, congenital, 21, presynaptic.2
HP:0010628HP:0010628Facial palsy0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0010628HP:0010628Facial palsy0SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0010628HP:0010628Facial palsy0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromes28
HP:0010628HP:0010628Facial palsy0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent68
HP:0010628HP:0010628Facial palsy0SLC25A4 CL E G H29110990OMIM:609283Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2.68
HP:0010628HP:0010628Facial palsy0SLC39A14 CL E G H2351620858OMIM:144755Hyperostosis cranialis interna.5
HP:0010628HP:0010628Facial palsy0SLC52A2 CL E G H7958130224OMIM:614707Brown-Vialetto-Van laere syndrome 2.47
HP:0010628HP:0010628Facial palsy0SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 1.51
HP:0010628HP:0010628Facial palsy0SLC52A3 CL E G H11327816187OMIM:211500Bulbar palsy, progressive, of childhood51
HP:0010628HP:0010628Facial palsy0SLC5A7 CL E G H6048214025OMIM:617143Myasthenic syndrome, congenital, 20, presynaptic.9
HP:0010628HP:0010628Facial palsy0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromes9
HP:0010628HP:0010628Facial palsy0SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040283 - Occasional87
HP:0010628HP:0010628Facial palsy0SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040283 - Occasional47
HP:0010628HP:0010628Facial palsy0SMCHD1 CL E G H2334729090OMIM:158901FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2174
HP:0010628HP:0010628Facial palsy0SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040283 - Occasional22
HP:0010628HP:0010628Facial palsy0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0010628HP:0010628Facial palsy0SNX10 CL E G H2988714974OMIM:615085Osteopetrosis, autosomal recessive 8.2
HP:0010628HP:0010628Facial palsy0SOST CL E G H5096413771OMIM:122860Craniodiaphyseal dysplasia, autosomal dominant26
HP:0010628HP:0010628Facial palsy0SOST CL E G H5096413771ORPHA:3416Hyperostosis corticalis generalisataHP:0040282 - Frequent26
HP:0010628HP:0010628Facial palsy0SOST CL E G H5096413771ORPHA:3152SclerosteosisHP:0040282 - Frequent26
HP:0010628HP:0010628Facial palsy0SOST CL E G H5096413771OMIM:269500Sclerosteosis 1.26
HP:0010628HP:0010628Facial palsy0SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent20
HP:0010628HP:0010628Facial palsy0SPEG CL E G H1029016901OMIM:615959Myopathy, centronuclear, 5.20
HP:0010628HP:0010628Facial palsy0SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness.3
HP:0010628HP:0010628Facial palsy0SQSTM1 CL E G H887811280OMIM:617158MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV62
HP:0010628HP:0010628Facial palsy0SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyria50
HP:0010628HP:0010628Facial palsy0SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)66
HP:0010628HP:0010628Facial palsy0SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040283 - Occasional124
HP:0010628HP:0010628Facial palsy0SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0010628HP:0010628Facial palsy0SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0010628HP:0010628Facial palsy0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromes4
HP:0010628HP:0010628Facial palsy0TCIRG1 CL E G H1031211647OMIM:259700Osteopetrosis, autosomal recessive 1.82
HP:0010628HP:0010628Facial palsy0TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040283 - Occasional238
HP:0010628HP:0010628Facial palsy0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0010628HP:0010628Facial palsy0TGFB1 CL E G H704011766ORPHA:1328Camurati-Engelmann diseaseHP:0040283 - Occasional13
HP:0010628HP:0010628Facial palsy0TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040282 - Frequent103
HP:0010628HP:0010628Facial palsy0TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type)103
HP:0010628HP:0010628Facial palsy0TK2 CL E G H708411831OMIM:617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3.103
HP:0010628HP:0010628Facial palsy0TOR1A CL E G H18613098OMIM:128100Dystonia 1, torsion, autosomal dominant47
HP:0010628HP:0010628Facial palsy0TPM2 CL E G H716912011ORPHA:171881Cap myopathyHP:0040283 - Occasional54
HP:0010628HP:0010628Facial palsy0TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathy54
HP:0010628HP:0010628Facial palsy0TPM2 CL E G H716912011OMIM:255310Myopathy, congenital, with fiber-type disproportion.54
HP:0010628HP:0010628Facial palsy0TPM2 CL E G H716912011OMIM:609285Nemaline myopathy 454
HP:0010628HP:0010628Facial palsy0TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent54
HP:0010628HP:0010628Facial palsy0TPM3 CL E G H717012012ORPHA:171881Cap myopathyHP:0040283 - Occasional108
HP:0010628HP:0010628Facial palsy0TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathy108
HP:0010628HP:0010628Facial palsy0TPM3 CL E G H717012012ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent108
HP:0010628HP:0010628Facial palsy0TPM3 CL E G H717012012OMIM:255310Myopathy, congenital, with fiber-type disproportion.108
HP:0010628HP:0010628Facial palsy0TPM3 CL E G H717012012OMIM:609284Nemaline myopathy 1108
HP:0010628HP:0010628Facial palsy0TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040283 - Occasional
HP:0010628HP:0010628Facial palsy0TRIM32 CL E G H2295416380OMIM:254110Muscular dystrophy, limb-girdle, type 2H.108
HP:0010628HP:0010628Facial palsy0TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy.214
HP:0010628HP:0010628Facial palsy0TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent7128
HP:0010628HP:0010628Facial palsy0TTN CL E G H727312403OMIM:611705Salih myopathy.7128
HP:0010628HP:0010628Facial palsy0TUBB3 CL E G H1038120772OMIM:600638Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvementHP:0040283 - Occasional64
HP:0010628HP:0010628Facial palsy0TUBB6 CL E G H8461720776OMIM:617732Facial palsy, congenital, with ptosis and velopharyngeal dysfunction.
HP:0010628HP:0010628Facial palsy0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent113
HP:0010628HP:0010628Facial palsy0UBA1 CL E G H731712469OMIM:301830Spinal muscular atrophy, X-linked 2.35
HP:0010628HP:0010628Facial palsy0UBA2 CL E G H1005430661ORPHA:1114Aplasia cutis congenitaHP:0040283 - Occasional
HP:0010628HP:0010628Facial palsy0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0010628HP:0010628Facial palsy0VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutation63
HP:0010628HP:0010628Facial palsy0VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1HP:0040283 - Occasional63
HP:0010628HP:0010628Facial palsy0XRCC2 CL E G H751612829OMIM:617247FANCONI ANEMIA, COMPLEMENTATION GROUP U125
HP:0010628HP:0010628Facial palsy0YME1L1 CL E G H1073012843OMIM:617302Optic atrophy 112
HP:0010628HP:0010628Facial palsy0ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome.19
HP:0010628HP:0010628Facial palsy0ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0010628HP:0010628Facial palsy0ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0010628HP:0001349Facial diplegia1ABCA1 CL E G H1929ORPHA:31150Tangier diseaseHP:0040283 - Occasional191
HP:0010628HP:0001349Facial diplegia1ABCA1 CL E G H1929OMIM:205400Tangier disease.191
HP:0010628HP:0001349Facial diplegia1ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional96
HP:0010628HP:0001349Facial diplegia1ACTA1 CL E G H58129ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional96
HP:0010628HP:0001349Facial diplegia1ACTA1 CL E G H58129ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional96
HP:0010628HP:0001349Facial diplegia1ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional96
HP:0010628HP:0001349Facial diplegia1ADCY6 CL E G H112237OMIM:616287Lethal congenital contracture syndrome 8.2
HP:0010628HP:0001349Facial diplegia1ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional88
HP:0010628HP:0004661Frontalis muscle weakness1AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent127
HP:0010628HP:0001349Facial diplegia1BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional99
HP:0010628HP:0001349Facial diplegia1CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional35
HP:0010628HP:0004661Frontalis muscle weakness1CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent65
HP:0010628HP:0001349Facial diplegia1CNTNAP1 CL E G H85068011OMIM:616286Lethal congenital contracture syndrome 7.9
HP:0010628HP:0001349Facial diplegia1CNTNAP1 CL E G H85068011OMIM:618186Neuropathy, congenital hypomyelinating, 3.9
HP:0010628HP:0004661Frontalis muscle weakness1COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent6
HP:0010628HP:0001349Facial diplegia1COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0010628HP:0001349Facial diplegia1CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent
HP:0010628HP:0001349Facial diplegia1CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathyHP:0040283 - Occasional46
HP:0010628HP:0001349Facial diplegia1DMPK CL E G H17602933OMIM:160900Myotonic dystrophy 1.152
HP:0010628HP:0001349Facial diplegia1FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent157
HP:0010628HP:0001349Facial diplegia1FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent184
HP:0010628HP:0001349Facial diplegia1GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease.45
HP:0010628HP:0012799Unilateral facial palsy1HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0010628HP:0001349Facial diplegia1KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional80
HP:0010628HP:0001349Facial diplegia1KLHL40 CL E G H13137730372ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional28
HP:0010628HP:0001349Facial diplegia1KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional13
HP:0010628HP:0001349Facial diplegia1KLHL41 CL E G H1032416905ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional13
HP:0010628HP:0001349Facial diplegia1KLHL41 CL E G H1032416905ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional13
HP:0010628HP:0001349Facial diplegia1KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional13
HP:0010628HP:0001349Facial diplegia1LMOD3 CL E G H562036649ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional11
HP:0010628HP:0001349Facial diplegia1LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional11
HP:0010628HP:0001349Facial diplegia1MPZ CL E G H43597225OMIM:618184Neuropathy, congenital hypomyelinating, 2.134
HP:0010628HP:0001349Facial diplegia1MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040283 - Occasional
HP:0010628HP:0001349Facial diplegia1MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7.
HP:0010628HP:0004661Frontalis muscle weakness1MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent
HP:0010628HP:0001349Facial diplegia1MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional217
HP:0010628HP:0001349Facial diplegia1NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional745
HP:0010628HP:0001349Facial diplegia1NEB CL E G H47037720ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional745
HP:0010628HP:0001349Facial diplegia1NEB CL E G H47037720ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional745
HP:0010628HP:0001349Facial diplegia1NEB CL E G H47037720ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional745
HP:0010628HP:0001349Facial diplegia1PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional11
HP:0010628HP:0430025Bilateral facial palsy1PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17HP:0040283 - Occasional759
HP:0010628HP:0001349Facial diplegia1POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0010628HP:0001349Facial diplegia1POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional45
HP:0010628HP:0001349Facial diplegia1POMT1 CL E G H105859202ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent213
HP:0010628HP:0001349Facial diplegia1RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional125
HP:0010628HP:0001349Facial diplegia1RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional1200
HP:0010628HP:0001349Facial diplegia1RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegiaHP:0040283 - Occasional1200
HP:0010628HP:0001349Facial diplegia1SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defectHP:0040282 - Frequent40
HP:0010628HP:0001349Facial diplegia1SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0010628HP:0001349Facial diplegia1SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy.163
HP:0010628HP:0004661Frontalis muscle weakness1SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent2
HP:0010628HP:0004661Frontalis muscle weakness1SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent28
HP:0010628HP:0001349Facial diplegia1SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional68
HP:0010628HP:0001349Facial diplegia1SLC52A3 CL E G H11327816187OMIM:211500Bulbar palsy, progressive, of childhood.51
HP:0010628HP:0004661Frontalis muscle weakness1SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent9
HP:0010628HP:0004661Frontalis muscle weakness1SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent2
HP:0010628HP:0001349Facial diplegia1SOST CL E G H5096413771OMIM:122860Craniodiaphyseal dysplasia, autosomal dominant.26
HP:0010628HP:0001349Facial diplegia1SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional20
HP:0010628HP:0001349Facial diplegia1SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional50
HP:0010628HP:0001349Facial diplegia1SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria).66
HP:0010628HP:0012799Unilateral facial palsy1SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0010628HP:0430025Bilateral facial palsy1SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0010628HP:0004661Frontalis muscle weakness1SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent4
HP:0010628HP:0001349Facial diplegia1TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type).103
HP:0010628HP:0001349Facial diplegia1TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional54
HP:0010628HP:0001349Facial diplegia1TPM2 CL E G H716912011OMIM:609285Nemaline myopathy 4.54
HP:0010628HP:0001349Facial diplegia1TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional54
HP:0010628HP:0001349Facial diplegia1TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional108
HP:0010628HP:0001349Facial diplegia1TPM3 CL E G H717012012ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional108
HP:0010628HP:0001349Facial diplegia1TPM3 CL E G H717012012OMIM:609284Nemaline myopathy 1.108
HP:0010628HP:0001349Facial diplegia1TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional7128
HP:0010628HP:0001349Facial diplegia1TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional113
HP:0010628HP:0004661Frontalis muscle weakness1VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent2
HP:0010628HP:0001349Facial diplegia1VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutationHP:0040283 - Occasional63
HP:0010628HP:0012799Unilateral facial palsy1XRCC2 CL E G H751612829OMIM:617247FANCONI ANEMIA, COMPLEMENTATION GROUP U125
HP:0010628HP:0001349Facial diplegia1YME1L1 CL E G H1073012843OMIM:617302Optic atrophy 11.2
HP:0010628HP:0001349Facial diplegia1ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0010628HP:0007188Congenital facial diplegia2COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0010628HP:0007188Congenital facial diplegia2ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis


Genes (189) :ABCA1 ACADS ACTA1 ADA2 ADCY6 ADGRG1 ADSS1 AGRN AK9 AKT1 ALG14 ALG2 AMER1 ANKH ANO5 ASAH1 BAG3 BAP1 BICRA BIN1 BMS1 BTNL2 CAPN3 CFL2 CHAT CHCHD10 CHD7 CHKB CHRNA1 CHRNB1 CHRND CHRNE CLCN7 CNTNAP1 COL12A1 COL13A1 COL25A1 COL6A1 COL6A2 COL6A3 COLQ CRLF1 CRPPA CRYAB DCTN1 DES DLL4 DMPK DNA2 DNAJB6 DNM2 DOK7 DPAGT1 EYA1 FKRP FKTN FRG1 GAN GFPT1 GJA1 GJC2 GLE1 GMPPB GNE GSN HK1 HLA-DRB1 HOXB1 ITGB4 KBTBD13 KIF1B KLHL40 KLHL41 KY LAMA2 LAMB2 LARGE1 LMOD3 LRP12 LRP4 LRP5 MEGF10 MGME1 MPZ MTM1 MTMR14 MTMR2 MTRFR MUSK MYH7 MYL2 MYMK MYMX MYO9A MYPN NARS2 NEB NEFL NF2 NOD2 OSTM1 PABPN1 PDGFB PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PI4KA PIK3CA PLEC PLXND1 POLG POLG2 POMT1 POMT2 PTDSS1 PTRH2 PUF60 RAPSN REV3L RRM2B RYR1 SALL4 SCN4A SCO2 SELENON SEMA3E SGCD SH3TC2 SHMT2 SIX1 SIX5 SLC12A6 SLC18A3 SLC19A3 SLC25A1 SLC25A4 SLC39A14 SLC52A2 SLC52A3 SLC5A7 SMARCB1 SMARCE1 SMCHD1 SMO SNAP25 SNX10 SOST SPEG SPTBN4 SQSTM1 SRPX2 SUCLA2 SUFU SUPT16H SYNE1 SYT2 TCIRG1 TERT TFAP2A TGFB1 TK2 TOR1A TPM2 TPM3 TRAF7 TRIM32 TRPV4 TTN TUBB3 TUBB6 TWNK UBA1 UBA2 VAMP1 VCP XRCC2 YME1L1 ZC4H2 ZFHX4

Diseases (174) :ORPHA:31150 OMIM:205400 OMIM:201470 ORPHA:171439 ORPHA:171433 OMIM:255310 OMIM:616852 OMIM:161800 ORPHA:171430 ORPHA:171436 ORPHA:97240 OMIM:182410 OMIM:616287 ORPHA:98889 OMIM:617030 ORPHA:98913 ORPHA:98914 ORPHA:2495 ORPHA:353327 OMIM:300373 ORPHA:2780 ORPHA:1522 OMIM:123000 ORPHA:206549 OMIM:611307 OMIM:159950 OMIM:612954 OMIM:619325 ORPHA:169186 OMIM:255200 ORPHA:1114 ORPHA:797 OMIM:612387 OMIM:253600 OMIM:616209 ORPHA:138 OMIM:214800 OMIM:602541 OMIM:608930 OMIM:616313 OMIM:616322 OMIM:616323 OMIM:616324 OMIM:608931 ORPHA:53 OMIM:166600 OMIM:611490 OMIM:616286 OMIM:618186 OMIM:616470 OMIM:616720 ORPHA:91411 OMIM:254090 OMIM:255600 ORPHA:98915 OMIM:272430 ORPHA:370980 ORPHA:399058 OMIM:607641 OMIM:601419 OMIM:160900 OMIM:615156 OMIM:603511 OMIM:160150 ORPHA:107 ORPHA:52429 OMIM:113650 ORPHA:370968 OMIM:606612 OMIM:158900 ORPHA:643 OMIM:256850 OMIM:610542 OMIM:218400 OMIM:608804 OMIM:611890 ORPHA:602 ORPHA:85448 OMIM:618547 OMIM:614744 OMIM:118210 OMIM:615348 OMIM:617114 ORPHA:258 OMIM:608840 OMIM:616165 OMIM:164310 ORPHA:3152 OMIM:614305 ORPHA:2790 ORPHA:3416 ORPHA:178377 OMIM:614399 OMIM:615084 OMIM:618184 OMIM:310400 OMIM:601382 ORPHA:254930 OMIM:613559 OMIM:616325 ORPHA:437572 OMIM:160500 OMIM:619424 OMIM:254940 ORPHA:1358 ORPHA:171881 OMIM:617336 OMIM:616239 OMIM:607684 ORPHA:637 ORPHA:90340 OMIM:259720 OMIM:164300 ORPHA:772 ORPHA:254361 ORPHA:570 ORPHA:254892 ORPHA:254886 OMIM:157640 OMIM:258450 OMIM:610131 OMIM:613155 OMIM:613156 ORPHA:2658 ORPHA:456312 ORPHA:508498 ORPHA:98905 OMIM:255320 ORPHA:178145 OMIM:607323 ORPHA:521411 OMIM:602771 ORPHA:219 OMIM:601596 OMIM:619121 OMIM:218000 OMIM:617239 OMIM:607483 OMIM:609283 OMIM:144755 OMIM:614707 OMIM:211530 OMIM:211500 OMIM:617143 OMIM:158901 OMIM:615085 OMIM:122860 OMIM:269500 OMIM:615959 OMIM:617519 OMIM:617158 OMIM:612073 OMIM:619480 ORPHA:319332 OMIM:259700 OMIM:113620 ORPHA:1328 OMIM:609560 OMIM:617069 OMIM:128100 OMIM:609285 OMIM:609284 OMIM:254110 OMIM:181405 OMIM:611705 OMIM:600638 OMIM:617732 OMIM:301830 ORPHA:329478 OMIM:167320 OMIM:617247 OMIM:617302 OMIM:314580 OMIM:301041
 

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