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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0010628HP:0010628Facial palsy0ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM132890606885
HP:0010628HP:0010628Facial palsy0ACTA1 CL E G H5897240ORPHA1392129102610
HP:0010628HP:0010628Facial palsy0ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1392129102610
HP:0010628HP:0010628Facial palsy0ACTA1 CL E G H58616852Myopathy, scapulohumeroperoneal616852C4225181OMIM1392129102610
HP:0010628HP:0010628Facial palsy0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0010628HP:0010628Facial palsy0ADA2 CL E G H51816182410Idiopathic livedo reticularis with systemic involvement182410C0282492OMIM14341839607575
HP:0010628HP:0010628Facial palsy0ADSSL1 CL E G H122622617030Myopathy, distal, 5617030C4310754OMIM120093612498
HP:0010628HP:0010628Facial palsy0AGRN CL E G H37579098913ORPHA11782329103320
HP:0010628HP:0010628Facial palsy0AGRN CL E G H375790615120Myasthenic syndrome, congenital, 8615120C3808739OMIM11782329103320
HP:0010628HP:0010628Facial palsy0AK9 CL E G H22126498913ORPHA14833814615358
HP:0010628HP:0010628Facial palsy0AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM129326837300647
HP:0010628HP:0010628Facial palsy0ANKH CL E G H56172123000Craniometaphyseal dysplasia, autosomal dominant123000C1852502OMIM145715492605145
HP:0010628HP:0010628Facial palsy0ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM197227337608662
HP:0010628HP:0010628Facial palsy0ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1712735613468
HP:0010628HP:0010628Facial palsy0BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1856939603883
HP:0010628HP:0010628Facial palsy0BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM15521052601248
HP:0010628HP:0010628Facial palsy0CHCHD10 CL E G H400916616209Myopathy, isolated mitochondrial, autosomal dominant616209C4015513OMIM124815559615903
HP:0010628HP:0010628Facial palsy0CHD7 CL E G H55636138ORPHA1231820626608892
HP:0010628HP:0010628Facial palsy0CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM14191938612395
HP:0010628HP:0010628Facial palsy0CHRNA1 CL E G H113498913ORPHA13981955100690
HP:0010628HP:0010628Facial palsy0CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0010628HP:0010628Facial palsy0CHRNB1 CL E G H114098913ORPHA13571961100710
HP:0010628HP:0010628Facial palsy0CHRNB1 CL E G H1140616313Myasthenic syndrome, congenital, 2a, slow-channel616313C4225374OMIM13571961100710
HP:0010628HP:0010628Facial palsy0CHRND CL E G H114498913ORPHA14081965100720
HP:0010628HP:0010628Facial palsy0CHRND CL E G H1144616322Myasthenic syndrome, congenital, 3b, fast-channel616322C4225371OMIM14081965100720
HP:0010628HP:0010628Facial palsy0CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM14081965100720
HP:0010628HP:0010628Facial palsy0CHRNE CL E G H114598913ORPHA17951966100725
HP:0010628HP:0010628Facial palsy0CHRNE CL E G H1145616324Myasthenic syndrome, congenital, 4b, fast-channel616324C4225369OMIM17951966100725
HP:0010628HP:0010628Facial palsy0CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM17951966100725
HP:0010628HP:0010628Facial palsy0CLCF1 CL E G H23529610313Cold-induced sweating syndrome 2610313C1853198OMIM13317412607672
HP:0010628HP:0010628Facial palsy0CLCN7 CL E G H118653ORPHA17292025602727
HP:0010628HP:0010628Facial palsy0CLCN7 CL E G H1186166600Osteopetrosis autosomal dominant type 2166600C3179239OMIM17292025602727
HP:0010628HP:0010628Facial palsy0CLCN7 CL E G H1186611490Osteopetrosis autosomal recessive 4611490C1969106OMIM17292025602727
HP:0010628HP:0010628Facial palsy0COL12A1 CL E G H1303616470Ullrich congenital muscular dystrophy 2616470C4225314OMIM119442188120320
HP:0010628HP:0010628Facial palsy0COL13A1 CL E G H130598913ORPHA13972190120350
HP:0010628HP:0010628Facial palsy0COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM114702211120220
HP:0010628HP:0010628Facial palsy0COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM116442212120240
HP:0010628HP:0010628Facial palsy0COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM116442212120240
HP:0010628HP:0010628Facial palsy0COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM124142213120250
HP:0010628HP:0010628Facial palsy0COLQ CL E G H829298915ORPHA14652226603033
HP:0010628HP:0010628Facial palsy0CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM1802364604237
HP:0010628HP:0010628Facial palsy0DCTN1 CL E G H1639607641Distal hereditary motor neuronopathy type 7B607641C1843315OMIM18582711601143
HP:0010628HP:0010628Facial palsy0DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM18182770125660
HP:0010628HP:0010628Facial palsy0DMPK CL E G H1760273ORPHA12352933605377
HP:0010628HP:0010628Facial palsy0DNA2 CL E G H1763615156Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6615156C3554599OMIM13312939601810
HP:0010628HP:0010628Facial palsy0DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM18852974602378
HP:0010628HP:0010628Facial palsy0DOK7 CL E G H28548998913ORPHA184026594610285
HP:0010628HP:0010628Facial palsy0DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM184026594610285
HP:0010628HP:0010628Facial palsy0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0010628HP:0010628Facial palsy0FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11263954601278
HP:0010628HP:0010628Facial palsy0GAN CL E G H8139643ORPHA16614137605379
HP:0010628HP:0010628Facial palsy0GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM16614137605379
HP:0010628HP:0010628Facial palsy0GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM14534241138292
HP:0010628HP:0010628Facial palsy0GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14534241138292
HP:0010628HP:0010628Facial palsy0GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM12214274121014
HP:0010628HP:0010628Facial palsy0GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM125017494608803
HP:0010628HP:0010628Facial palsy0HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1325111142968
HP:0010628HP:0010628Facial palsy0KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM137830372615340
HP:0010628HP:0010628Facial palsy0KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM18726576605739
HP:0010628HP:0010628Facial palsy0LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA132836482156225
HP:0010628HP:0010628Facial palsy0LAMB2 CL E G H391398915ORPHA16776487150325
HP:0010628HP:0010628Facial palsy0LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM16586511603590
HP:0010628HP:0010628Facial palsy0LMOD3 CL E G H56203616165Nemaline myopathy 10616165C4015360OMIM13266649616112
HP:0010628HP:0010628Facial palsy0LRP4 CL E G H403898913ORPHA17906696604270
HP:0010628HP:0010628Facial palsy0LRP4 CL E G H40383152Kuster syndromeORPHA17906696604270
HP:0010628HP:0010628Facial palsy0LRP4 CL E G H4038614305Sclerosteosis 2614305C3280402OMIM17906696604270
HP:0010628HP:0010628Facial palsy0LRP5 CL E G H40413416Mathieu De Broca Bony syndromeORPHA113546697603506
HP:0010628HP:0010628Facial palsy0MEGF10 CL E G H84466614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset614399C3280679OMIM179429634612453
HP:0010628HP:0010628Facial palsy0MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM17816205615076
HP:0010628HP:0010628Facial palsy0MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM17207448300415
HP:0010628HP:0010628Facial palsy0MTMR2 CL E G H8898601382Charcot-Marie-Tooth disease, type 4B1601382C1832399OMIM14607450603557
HP:0010628HP:0010628Facial palsy0MUSK CL E G H459398913ORPHA14967525601296
HP:0010628HP:0010628Facial palsy0MUSK CL E G H4593616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency616325C4225368OMIM14967525601296
HP:0010628HP:0010628Facial palsy0MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM136127577160760
HP:0010628HP:0010628Facial palsy0MYH7 CL E G H4625160500Myopathy, distal, 1160500CN074249OMIM136127577160760
HP:0010628HP:0010628Facial palsy0MYMK CL E G H3898271358ORPHA17533778615345
HP:0010628HP:0010628Facial palsy0MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM17533778615345
HP:0010628HP:0010628Facial palsy0MYPN CL E G H84665617336Nemaline myopathy 11, autosomal recessive617336C4479186OMIM1126323246608517
HP:0010628HP:0010628Facial palsy0NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM120626274612803
HP:0010628HP:0010628Facial palsy0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM164447720161650
HP:0010628HP:0010628Facial palsy0PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1638565602279
HP:0010628HP:0010628Facial palsy0PLXND1 CL E G H23129570ORPHA11189107604282
HP:0010628HP:0010628Facial palsy0POLG CL E G H5428254886ORPHA119179179174763
HP:0010628HP:0010628Facial palsy0POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM119179179174763
HP:0010628HP:0010628Facial palsy0POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM119179179174763
HP:0010628HP:0010628Facial palsy0POLG2 CL E G H11232610131Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4610131C1864668OMIM12409180604983
HP:0010628HP:0010628Facial palsy0POMT1 CL E G H10585613155Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1613155C3150415OMIM17379202607423
HP:0010628HP:0010628Facial palsy0POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM176619743607439
HP:0010628HP:0010628Facial palsy0PTDSS1 CL E G H97912658ORPHA11319587612792
HP:0010628HP:0010628Facial palsy0PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM144326162617220
HP:0010628HP:0010628Facial palsy0RAPSN CL E G H591398913ORPHA14339863601592
HP:0010628HP:0010628Facial palsy0REV3L CL E G H5980570ORPHA11339968602776
HP:0010628HP:0010628Facial palsy0RYR1 CL E G H6261178145ORPHA1506210483180901
HP:0010628HP:0010628Facial palsy0RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1506210483180901
HP:0010628HP:0010628Facial palsy0RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1506210483180901
HP:0010628HP:0010628Facial palsy0SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM121115924607343
HP:0010628HP:0010628Facial palsy0SCN4A CL E G H632998913ORPHA1139110591603967
HP:0010628HP:0010628Facial palsy0SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM153715999606210
HP:0010628HP:0010628Facial palsy0SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM153715999606210
HP:0010628HP:0010628Facial palsy0SEMA3E CL E G H9723138ORPHA145110727608166
HP:0010628HP:0010628Facial palsy0SGCD CL E G H6444219Congenital giant megaureterORPHA158710807601411
HP:0010628HP:0010628Facial palsy0SH3TC2 CL E G H79628601596Charcot-Marie-Tooth disease, type 4C601596C1866636OMIM1148329427608206
HP:0010628HP:0010628Facial palsy0SLC18A3 CL E G H6572617239Myasthenic syndrome, congenital, 21, presynaptic617239C4310654OMIM121510936600336
HP:0010628HP:0010628Facial palsy0SLC25A4 CL E G H291609283Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2609283C1836460OMIM127810990103220
HP:0010628HP:0010628Facial palsy0SLC39A14 CL E G H23516144755Hyperostosis cranialis interna144755C1840404OMIM117620858608736
HP:0010628HP:0010628Facial palsy0SLC52A2 CL E G H7958197229ORPHA145830224607882
HP:0010628HP:0010628Facial palsy0SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM145830224607882
HP:0010628HP:0010628Facial palsy0SLC52A3 CL E G H11327897229ORPHA139916187613350
HP:0010628HP:0010628Facial palsy0SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM139916187613350
HP:0010628HP:0010628Facial palsy0SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM137514025608761
HP:0010628HP:0010628Facial palsy0SNX10 CL E G H29887615085Osteopetrosis, autosomal recessive 8615085C3554478OMIM111114974614780
HP:0010628HP:0010628Facial palsy0SOST CL E G H509643152Kuster syndromeORPHA18513771605740
HP:0010628HP:0010628Facial palsy0SOST CL E G H509643416Mathieu De Broca Bony syndromeORPHA18513771605740
HP:0010628HP:0010628Facial palsy0SOST CL E G H50964269500Sclerosteosis 1269500CN032489OMIM18513771605740
HP:0010628HP:0010628Facial palsy0SPEG CL E G H10290615959Myopathy, centronuclear, 5615959C4014814OMIM190716901615950
HP:0010628HP:0010628Facial palsy0SPTBN4 CL E G H57731617519Myopathy, congenital, with neuropathy and deafness617519C4479603OMIM114014896606214
HP:0010628HP:0010628Facial palsy0SQSTM1 CL E G H8878617158Distal myopathy with rimmed vacuoles617158CN239822OMIM154211280601530
HP:0010628HP:0010628Facial palsy0TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM186011647604592
HP:0010628HP:0010628Facial palsy0TK2 CL E G H7084254886ORPHA135611831188250
HP:0010628HP:0010628Facial palsy0TK2 CL E G H7084617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3617069C4310734OMIM135611831188250
HP:0010628HP:0010628Facial palsy0TPM2 CL E G H7169255310Congenital myopathy with fiber type disproportion255310C0546264OMIM128012011190990
HP:0010628HP:0010628Facial palsy0TPM3 CL E G H7170255310Congenital myopathy with fiber type disproportion255310C0546264OMIM130012012191030
HP:0010628HP:0010628Facial palsy0TRIM32 CL E G H22954254110Sarcotubular myopathy254110C0270968OMIM151616380602290
HP:0010628HP:0010628Facial palsy0TRPV4 CL E G H59341181405Scapuloperoneal spinal muscular atrophy181405C0751335OMIM189118083605427
HP:0010628HP:0010628Facial palsy0TTN CL E G H7273611705Myopathy, early-onset, with fatal cardiomyopathy611705C2673677OMIM12285912403188840
HP:0010628HP:0010628Facial palsy0UBA1 CL E G H7317301830Spinal muscular atrophy, X-linked 2301830C1844934OMIM153112469314370
HP:0010628HP:0010628Facial palsy0ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM123724931300897
HP:0010628HP:0004661Frontalis muscle weakness1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM132890606885
HP:0010628HP:0001349Facial diplegia1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM132890606885
HP:0010628HP:0012799Unilateral facial palsy1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM132890606885
HP:0010628HP:0430025Bilateral facial palsy1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM132890606885
HP:0010628HP:0001349Facial diplegia1ACTA1 CL E G H5897240ORPHA1392129102610
HP:0010628HP:0430025Bilateral facial palsy1ACTA1 CL E G H5897240ORPHA1392129102610
HP:0010628HP:0012799Unilateral facial palsy1ACTA1 CL E G H5897240ORPHA1392129102610
HP:0010628HP:0004661Frontalis muscle weakness1ACTA1 CL E G H5897240ORPHA1392129102610
HP:0010628HP:0001349Facial diplegia1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1392129102610
HP:0010628HP:0430025Bilateral facial palsy1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1392129102610
HP:0010628HP:0012799Unilateral facial palsy1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1392129102610
HP:0010628HP:0004661Frontalis muscle weakness1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1392129102610
HP:0010628HP:0004661Frontalis muscle weakness1ACTA1 CL E G H58616852Myopathy, scapulohumeroperoneal616852C4225181OMIM1392129102610
HP:0010628HP:0001349Facial diplegia1ACTA1 CL E G H58616852Myopathy, scapulohumeroperoneal616852C4225181OMIM1392129102610
HP:0010628HP:0012799Unilateral facial palsy1ACTA1 CL E G H58616852Myopathy, scapulohumeroperoneal616852C4225181OMIM1392129102610
HP:0010628HP:0430025Bilateral facial palsy1ACTA1 CL E G H58616852Myopathy, scapulohumeroperoneal616852C4225181OMIM1392129102610
HP:0010628HP:0004661Frontalis muscle weakness1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0010628HP:0001349Facial diplegia1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0010628HP:0430025Bilateral facial palsy1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0010628HP:0012799Unilateral facial palsy1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0010628HP:0001349Facial diplegia1ADA2 CL E G H51816182410Idiopathic livedo reticularis with systemic involvement182410C0282492OMIM14341839607575
HP:0010628HP:0430025Bilateral facial palsy1ADA2 CL E G H51816182410Idiopathic livedo reticularis with systemic involvement182410C0282492OMIM14341839607575
HP:0010628HP:0012799Unilateral facial palsy1ADA2 CL E G H51816182410Idiopathic livedo reticularis with systemic involvement182410C0282492OMIM14341839607575
HP:0010628HP:0004661Frontalis muscle weakness1ADA2 CL E G H51816182410Idiopathic livedo reticularis with systemic involvement182410C0282492OMIM14341839607575
HP:0010628HP:0001349Facial diplegia1ADSSL1 CL E G H122622617030Myopathy, distal, 5617030C4310754OMIM120093612498
HP:0010628HP:0430025Bilateral facial palsy1ADSSL1 CL E G H122622617030Myopathy, distal, 5617030C4310754OMIM120093612498
HP:0010628HP:0012799Unilateral facial palsy1ADSSL1 CL E G H122622617030Myopathy, distal, 5617030C4310754OMIM120093612498
HP:0010628HP:0004661Frontalis muscle weakness1ADSSL1 CL E G H122622617030Myopathy, distal, 5617030C4310754OMIM120093612498
HP:0010628HP:0004661Frontalis muscle weakness1AGRN CL E G H37579098913ORPHA11782329103320
HP:0010628HP:0001349Facial diplegia1AGRN CL E G H37579098913ORPHA11782329103320
HP:0010628HP:0430025Bilateral facial palsy1AGRN CL E G H37579098913ORPHA11782329103320
HP:0010628HP:0012799Unilateral facial palsy1AGRN CL E G H37579098913ORPHA11782329103320
HP:0010628HP:0004661Frontalis muscle weakness1AGRN CL E G H375790615120Myasthenic syndrome, congenital, 8615120C3808739OMIM11782329103320
HP:0010628HP:0001349Facial diplegia1AGRN CL E G H375790615120Myasthenic syndrome, congenital, 8615120C3808739OMIM11782329103320
HP:0010628HP:0430025Bilateral facial palsy1AGRN CL E G H375790615120Myasthenic syndrome, congenital, 8615120C3808739OMIM11782329103320
HP:0010628HP:0012799Unilateral facial palsy1AGRN CL E G H375790615120Myasthenic syndrome, congenital, 8615120C3808739OMIM11782329103320
HP:0010628HP:0001349Facial diplegia1AK9 CL E G H22126498913ORPHA14833814615358
HP:0010628HP:0012799Unilateral facial palsy1AK9 CL E G H22126498913ORPHA14833814615358
HP:0010628HP:0430025Bilateral facial palsy1AK9 CL E G H22126498913ORPHA14833814615358
HP:0010628HP:0004661Frontalis muscle weakness1AK9 CL E G H22126498913ORPHA14833814615358
HP:0010628HP:0001349Facial diplegia1AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM129326837300647
HP:0010628HP:0430025Bilateral facial palsy1AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM129326837300647
HP:0010628HP:0012799Unilateral facial palsy1AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM129326837300647
HP:0010628HP:0004661Frontalis muscle weakness1AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM129326837300647
HP:0010628HP:0004661Frontalis muscle weakness1ANKH CL E G H56172123000Craniometaphyseal dysplasia, autosomal dominant123000C1852502OMIM145715492605145
HP:0010628HP:0001349Facial diplegia1ANKH CL E G H56172123000Craniometaphyseal dysplasia, autosomal dominant123000C1852502OMIM145715492605145
HP:0010628HP:0430025Bilateral facial palsy1ANKH CL E G H56172123000Craniometaphyseal dysplasia, autosomal dominant123000C1852502OMIM145715492605145
HP:0010628HP:0012799Unilateral facial palsy1ANKH CL E G H56172123000Craniometaphyseal dysplasia, autosomal dominant123000C1852502OMIM145715492605145
HP:0010628HP:0001349Facial diplegia1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM197227337608662
HP:0010628HP:0430025Bilateral facial palsy1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM197227337608662
HP:0010628HP:0012799Unilateral facial palsy1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM197227337608662
HP:0010628HP:0004661Frontalis muscle weakness1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM197227337608662
HP:0010628HP:0001349Facial diplegia1ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1712735613468
HP:0010628HP:0430025Bilateral facial palsy1ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1712735613468
HP:0010628HP:0012799Unilateral facial palsy1ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1712735613468
HP:0010628HP:0004661Frontalis muscle weakness1ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1712735613468
HP:0010628HP:0004661Frontalis muscle weakness1BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1856939603883
HP:0010628HP:0001349Facial diplegia1BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1856939603883
HP:0010628HP:0430025Bilateral facial palsy1BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1856939603883
HP:0010628HP:0012799Unilateral facial palsy1BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1856939603883
HP:0010628HP:0004661Frontalis muscle weakness1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM15521052601248
HP:0010628HP:0001349Facial diplegia1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM15521052601248
HP:0010628HP:0012799Unilateral facial palsy1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM15521052601248
HP:0010628HP:0430025Bilateral facial palsy1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM15521052601248
HP:0010628HP:0001349Facial diplegia1CHCHD10 CL E G H400916616209Myopathy, isolated mitochondrial, autosomal dominant616209C4015513OMIM124815559615903
HP:0010628HP:0012799Unilateral facial palsy1CHCHD10 CL E G H400916616209Myopathy, isolated mitochondrial, autosomal dominant616209C4015513OMIM124815559615903
HP:0010628HP:0430025Bilateral facial palsy1CHCHD10 CL E G H400916616209Myopathy, isolated mitochondrial, autosomal dominant616209C4015513OMIM124815559615903
HP:0010628HP:0004661Frontalis muscle weakness1CHCHD10 CL E G H400916616209Myopathy, isolated mitochondrial, autosomal dominant616209C4015513OMIM124815559615903
HP:0010628HP:0004661Frontalis muscle weakness1CHD7 CL E G H55636138ORPHA1231820626608892
HP:0010628HP:0001349Facial diplegia1CHD7 CL E G H55636138ORPHA1231820626608892
HP:0010628HP:0430025Bilateral facial palsy1CHD7 CL E G H55636138ORPHA1231820626608892
HP:0010628HP:0012799Unilateral facial palsy1CHD7 CL E G H55636138ORPHA1231820626608892
HP:0010628HP:0001349Facial diplegia1CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM14191938612395
HP:0010628HP:0430025Bilateral facial palsy1CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM14191938612395
HP:0010628HP:0012799Unilateral facial palsy1CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM14191938612395
HP:0010628HP:0004661Frontalis muscle weakness1CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM14191938612395
HP:0010628HP:0004661Frontalis muscle weakness1CHRNA1 CL E G H113498913ORPHA13981955100690
HP:0010628HP:0001349Facial diplegia1CHRNA1 CL E G H113498913ORPHA13981955100690
HP:0010628HP:0430025Bilateral facial palsy1CHRNA1 CL E G H113498913ORPHA13981955100690
HP:0010628HP:0012799Unilateral facial palsy1CHRNA1 CL E G H113498913ORPHA13981955100690
HP:0010628HP:0004661Frontalis muscle weakness1CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0010628HP:0001349Facial diplegia1CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0010628HP:0430025Bilateral facial palsy1CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0010628HP:0012799Unilateral facial palsy1CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0010628HP:0001349Facial diplegia1CHRNB1 CL E G H114098913ORPHA13571961100710
HP:0010628HP:0430025Bilateral facial palsy1CHRNB1 CL E G H114098913ORPHA13571961100710
HP:0010628HP:0012799Unilateral facial palsy1CHRNB1 CL E G H114098913ORPHA13571961100710
HP:0010628HP:0004661Frontalis muscle weakness1CHRNB1 CL E G H114098913ORPHA13571961100710
HP:0010628HP:0001349Facial diplegia1CHRNB1 CL E G H1140616313Myasthenic syndrome, congenital, 2a, slow-channel616313C4225374OMIM13571961100710
HP:0010628HP:0430025Bilateral facial palsy1CHRNB1 CL E G H1140616313Myasthenic syndrome, congenital, 2a, slow-channel616313C4225374OMIM13571961100710
HP:0010628HP:0012799Unilateral facial palsy1CHRNB1 CL E G H1140616313Myasthenic syndrome, congenital, 2a, slow-channel616313C4225374OMIM13571961100710
HP:0010628HP:0004661Frontalis muscle weakness1CHRNB1 CL E G H1140616313Myasthenic syndrome, congenital, 2a, slow-channel616313C4225374OMIM13571961100710
HP:0010628HP:0004661Frontalis muscle weakness1CHRND CL E G H114498913ORPHA14081965100720
HP:0010628HP:0001349Facial diplegia1CHRND CL E G H114498913ORPHA14081965100720
HP:0010628HP:0430025Bilateral facial palsy1CHRND CL E G H114498913ORPHA14081965100720
HP:0010628HP:0012799Unilateral facial palsy1CHRND CL E G H114498913ORPHA14081965100720
HP:0010628HP:0004661Frontalis muscle weakness1CHRND CL E G H1144616322Myasthenic syndrome, congenital, 3b, fast-channel616322C4225371OMIM14081965100720
HP:0010628HP:0001349Facial diplegia1CHRND CL E G H1144616322Myasthenic syndrome, congenital, 3b, fast-channel616322C4225371OMIM14081965100720
HP:0010628HP:0012799Unilateral facial palsy1CHRND CL E G H1144616322Myasthenic syndrome, congenital, 3b, fast-channel616322C4225371OMIM14081965100720
HP:0010628HP:0430025Bilateral facial palsy1CHRND CL E G H1144616322Myasthenic syndrome, congenital, 3b, fast-channel616322C4225371OMIM14081965100720
HP:0010628HP:0001349Facial diplegia1CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM14081965100720
HP:0010628HP:0430025Bilateral facial palsy1CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM14081965100720
HP:0010628HP:0012799Unilateral facial palsy1CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM14081965100720
HP:0010628HP:0004661Frontalis muscle weakness1CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM14081965100720
HP:0010628HP:0001349Facial diplegia1CHRNE CL E G H114598913ORPHA17951966100725
HP:0010628HP:0430025Bilateral facial palsy1CHRNE CL E G H114598913ORPHA17951966100725
HP:0010628HP:0012799Unilateral facial palsy1CHRNE CL E G H114598913ORPHA17951966100725
HP:0010628HP:0004661Frontalis muscle weakness1CHRNE CL E G H114598913ORPHA17951966100725
HP:0010628HP:0004661Frontalis muscle weakness1CHRNE CL E G H1145616324Myasthenic syndrome, congenital, 4b, fast-channel616324C4225369OMIM17951966100725
HP:0010628HP:0001349Facial diplegia1CHRNE CL E G H1145616324Myasthenic syndrome, congenital, 4b, fast-channel616324C4225369OMIM17951966100725
HP:0010628HP:0430025Bilateral facial palsy1CHRNE CL E G H1145616324Myasthenic syndrome, congenital, 4b, fast-channel616324C4225369OMIM17951966100725
HP:0010628HP:0012799Unilateral facial palsy1CHRNE CL E G H1145616324Myasthenic syndrome, congenital, 4b, fast-channel616324C4225369OMIM17951966100725
HP:0010628HP:0001349Facial diplegia1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM17951966100725
HP:0010628HP:0430025Bilateral facial palsy1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM17951966100725
HP:0010628HP:0012799Unilateral facial palsy1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM17951966100725
HP:0010628HP:0004661Frontalis muscle weakness1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM17951966100725
HP:0010628HP:0001349Facial diplegia1CLCF1 CL E G H23529610313Cold-induced sweating syndrome 2610313C1853198OMIM13317412607672
HP:0010628HP:0430025Bilateral facial palsy1CLCF1 CL E G H23529610313Cold-induced sweating syndrome 2610313C1853198OMIM13317412607672
HP:0010628HP:0012799Unilateral facial palsy1CLCF1 CL E G H23529610313Cold-induced sweating syndrome 2610313C1853198OMIM13317412607672
HP:0010628HP:0004661Frontalis muscle weakness1CLCF1 CL E G H23529610313Cold-induced sweating syndrome 2610313C1853198OMIM13317412607672
HP:0010628HP:0004661Frontalis muscle weakness1CLCN7 CL E G H118653ORPHA17292025602727
HP:0010628HP:0001349Facial diplegia1CLCN7 CL E G H118653ORPHA17292025602727
HP:0010628HP:0430025Bilateral facial palsy1CLCN7 CL E G H118653ORPHA17292025602727
HP:0010628HP:0012799Unilateral facial palsy1CLCN7 CL E G H118653ORPHA17292025602727
HP:0010628HP:0004661Frontalis muscle weakness1CLCN7 CL E G H1186166600Osteopetrosis autosomal dominant type 2166600C3179239OMIM17292025602727
HP:0010628HP:0001349Facial diplegia1CLCN7 CL E G H1186166600Osteopetrosis autosomal dominant type 2166600C3179239OMIM17292025602727
HP:0010628HP:0430025Bilateral facial palsy1CLCN7 CL E G H1186166600Osteopetrosis autosomal dominant type 2166600C3179239OMIM17292025602727
HP:0010628HP:0012799Unilateral facial palsy1CLCN7 CL E G H1186166600Osteopetrosis autosomal dominant type 2166600C3179239OMIM17292025602727
HP:0010628HP:0004661Frontalis muscle weakness1CLCN7 CL E G H1186611490Osteopetrosis autosomal recessive 4611490C1969106OMIM17292025602727
HP:0010628HP:0001349Facial diplegia1CLCN7 CL E G H1186611490Osteopetrosis autosomal recessive 4611490C1969106OMIM17292025602727
HP:0010628HP:0430025Bilateral facial palsy1CLCN7 CL E G H1186611490Osteopetrosis autosomal recessive 4611490C1969106OMIM17292025602727
HP:0010628HP:0012799Unilateral facial palsy1CLCN7 CL E G H1186611490Osteopetrosis autosomal recessive 4611490C1969106OMIM17292025602727
HP:0010628HP:0004661Frontalis muscle weakness1COL12A1 CL E G H1303616470Ullrich congenital muscular dystrophy 2616470C4225314OMIM119442188120320
HP:0010628HP:0001349Facial diplegia1COL12A1 CL E G H1303616470Ullrich congenital muscular dystrophy 2616470C4225314OMIM119442188120320
HP:0010628HP:0430025Bilateral facial palsy1COL12A1 CL E G H1303616470Ullrich congenital muscular dystrophy 2616470C4225314OMIM119442188120320
HP:0010628HP:0012799Unilateral facial palsy1COL12A1 CL E G H1303616470Ullrich congenital muscular dystrophy 2616470C4225314OMIM119442188120320
HP:0010628HP:0004661Frontalis muscle weakness1COL13A1 CL E G H130598913ORPHA13972190120350
HP:0010628HP:0001349Facial diplegia1COL13A1 CL E G H130598913ORPHA13972190120350
HP:0010628HP:0430025Bilateral facial palsy1COL13A1 CL E G H130598913ORPHA13972190120350
HP:0010628HP:0012799Unilateral facial palsy1COL13A1 CL E G H130598913ORPHA13972190120350
HP:0010628HP:0004661Frontalis muscle weakness1COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM114702211120220
HP:0010628HP:0001349Facial diplegia1COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM114702211120220
HP:0010628HP:0012799Unilateral facial palsy1COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM114702211120220
HP:0010628HP:0430025Bilateral facial palsy1COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM114702211120220
HP:0010628HP:0004661Frontalis muscle weakness1COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM116442212120240
HP:0010628HP:0001349Facial diplegia1COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM116442212120240
HP:0010628HP:0430025Bilateral facial palsy1COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM116442212120240
HP:0010628HP:0012799Unilateral facial palsy1COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM116442212120240
HP:0010628HP:0001349Facial diplegia1COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM116442212120240
HP:0010628HP:0430025Bilateral facial palsy1COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM116442212120240
HP:0010628HP:0012799Unilateral facial palsy1COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM116442212120240
HP:0010628HP:0004661Frontalis muscle weakness1COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM116442212120240
HP:0010628HP:0004661Frontalis muscle weakness1COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM124142213120250
HP:0010628HP:0001349Facial diplegia1COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM124142213120250
HP:0010628HP:0430025Bilateral facial palsy1COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM124142213120250
HP:0010628HP:0012799Unilateral facial palsy1COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM124142213120250
HP:0010628HP:0004661Frontalis muscle weakness1COLQ CL E G H829298915ORPHA14652226603033
HP:0010628HP:0001349Facial diplegia1COLQ CL E G H829298915ORPHA14652226603033
HP:0010628HP:0430025Bilateral facial palsy1COLQ CL E G H829298915ORPHA14652226603033
HP:0010628HP:0012799Unilateral facial palsy1COLQ CL E G H829298915ORPHA14652226603033
HP:0010628HP:0004661Frontalis muscle weakness1CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM1802364604237
HP:0010628HP:0001349Facial diplegia1CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM1802364604237
HP:0010628HP:0430025Bilateral facial palsy1CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM1802364604237
HP:0010628HP:0012799Unilateral facial palsy1CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM1802364604237
HP:0010628HP:0004661Frontalis muscle weakness1DCTN1 CL E G H1639607641Distal hereditary motor neuronopathy type 7B607641C1843315OMIM18582711601143
HP:0010628HP:0001349Facial diplegia1DCTN1 CL E G H1639607641Distal hereditary motor neuronopathy type 7B607641C1843315OMIM18582711601143
HP:0010628HP:0012799Unilateral facial palsy1DCTN1 CL E G H1639607641Distal hereditary motor neuronopathy type 7B607641C1843315OMIM18582711601143
HP:0010628HP:0430025Bilateral facial palsy1DCTN1 CL E G H1639607641Distal hereditary motor neuronopathy type 7B607641C1843315OMIM18582711601143
HP:0010628HP:0001349Facial diplegia1DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM18182770125660
HP:0010628HP:0430025Bilateral facial palsy1DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM18182770125660
HP:0010628HP:0012799Unilateral facial palsy1DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM18182770125660
HP:0010628HP:0004661Frontalis muscle weakness1DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM18182770125660
HP:0010628HP:0004661Frontalis muscle weakness1DMPK CL E G H1760273ORPHA12352933605377
HP:0010628HP:0001349Facial diplegia1DMPK CL E G H1760273ORPHA12352933605377
HP:0010628HP:0430025Bilateral facial palsy1DMPK CL E G H1760273ORPHA12352933605377
HP:0010628HP:0012799Unilateral facial palsy1DMPK CL E G H1760273ORPHA12352933605377
HP:0010628HP:0001349Facial diplegia1DNA2 CL E G H1763615156Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6615156C3554599OMIM13312939601810
HP:0010628HP:0430025Bilateral facial palsy1DNA2 CL E G H1763615156Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6615156C3554599OMIM13312939601810
HP:0010628HP:0012799Unilateral facial palsy1DNA2 CL E G H1763615156Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6615156C3554599OMIM13312939601810
HP:0010628HP:0004661Frontalis muscle weakness1DNA2 CL E G H1763615156Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6615156C3554599OMIM13312939601810
HP:0010628HP:0004661Frontalis muscle weakness1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM18852974602378
HP:0010628HP:0001349Facial diplegia1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM18852974602378
HP:0010628HP:0430025Bilateral facial palsy1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM18852974602378
HP:0010628HP:0012799Unilateral facial palsy1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM18852974602378
HP:0010628HP:0001349Facial diplegia1DOK7 CL E G H28548998913ORPHA184026594610285
HP:0010628HP:0430025Bilateral facial palsy1DOK7 CL E G H28548998913ORPHA184026594610285
HP:0010628HP:0012799Unilateral facial palsy1DOK7 CL E G H28548998913ORPHA184026594610285
HP:0010628HP:0004661Frontalis muscle weakness1DOK7 CL E G H28548998913ORPHA184026594610285
HP:0010628HP:0004661Frontalis muscle weakness1DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM184026594610285
HP:0010628HP:0001349Facial diplegia1DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM184026594610285
HP:0010628HP:0430025Bilateral facial palsy1DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM184026594610285
HP:0010628HP:0012799Unilateral facial palsy1DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM184026594610285
HP:0010628HP:0004661Frontalis muscle weakness1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0010628HP:0001349Facial diplegia1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0010628HP:0430025Bilateral facial palsy1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0010628HP:0012799Unilateral facial palsy1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0010628HP:0001349Facial diplegia1FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11263954601278
HP:0010628HP:0430025Bilateral facial palsy1FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11263954601278
HP:0010628HP:0012799Unilateral facial palsy1FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11263954601278
HP:0010628HP:0004661Frontalis muscle weakness1FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11263954601278
HP:0010628HP:0001349Facial diplegia1GAN CL E G H8139643ORPHA16614137605379
HP:0010628HP:0430025Bilateral facial palsy1GAN CL E G H8139643ORPHA16614137605379
HP:0010628HP:0012799Unilateral facial palsy1GAN CL E G H8139643ORPHA16614137605379
HP:0010628HP:0004661Frontalis muscle weakness1GAN CL E G H8139643ORPHA16614137605379
HP:0010628HP:0004661Frontalis muscle weakness1GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM16614137605379
HP:0010628HP:0001349Facial diplegia1GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM16614137605379
HP:0010628HP:0430025Bilateral facial palsy1GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM16614137605379
HP:0010628HP:0012799Unilateral facial palsy1GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM16614137605379
HP:0010628HP:0004661Frontalis muscle weakness1GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM14534241138292
HP:0010628HP:0001349Facial diplegia1GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM14534241138292
HP:0010628HP:0430025Bilateral facial palsy1GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM14534241138292
HP:0010628HP:0012799Unilateral facial palsy1GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM14534241138292
HP:0010628HP:0004661Frontalis muscle weakness1GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14534241138292
HP:0010628HP:0001349Facial diplegia1GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14534241138292
HP:0010628HP:0430025Bilateral facial palsy1GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14534241138292
HP:0010628HP:0012799Unilateral facial palsy1GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14534241138292
HP:0010628HP:0004661Frontalis muscle weakness1GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM12214274121014
HP:0010628HP:0001349Facial diplegia1GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM12214274121014
HP:0010628HP:0430025Bilateral facial palsy1GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM12214274121014
HP:0010628HP:0012799Unilateral facial palsy1GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM12214274121014
HP:0010628HP:0004661Frontalis muscle weakness1GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM125017494608803
HP:0010628HP:0001349Facial diplegia1GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM125017494608803
HP:0010628HP:0430025Bilateral facial palsy1GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM125017494608803
HP:0010628HP:0012799Unilateral facial palsy1GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM125017494608803
HP:0010628HP:0004661Frontalis muscle weakness1HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1325111142968
HP:0010628HP:0001349Facial diplegia1HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1325111142968
HP:0010628HP:0430025Bilateral facial palsy1HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1325111142968
HP:0010628HP:0012799Unilateral facial palsy1HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1325111142968
HP:0010628HP:0004661Frontalis muscle weakness1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM137830372615340
HP:0010628HP:0001349Facial diplegia1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM137830372615340
HP:0010628HP:0012799Unilateral facial palsy1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM137830372615340
HP:0010628HP:0430025Bilateral facial palsy1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM137830372615340
HP:0010628HP:0001349Facial diplegia1KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM18726576605739
HP:0010628HP:0430025Bilateral facial palsy1KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM18726576605739
HP:0010628HP:0012799Unilateral facial palsy1KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM18726576605739
HP:0010628HP:0004661Frontalis muscle weakness1KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM18726576605739
HP:0010628HP:0001349Facial diplegia1LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA132836482156225
HP:0010628HP:0430025Bilateral facial palsy1LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA132836482156225
HP:0010628HP:0012799Unilateral facial palsy1LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA132836482156225
HP:0010628HP:0004661Frontalis muscle weakness1LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA132836482156225
HP:0010628HP:0001349Facial diplegia1LAMB2 CL E G H391398915ORPHA16776487150325
HP:0010628HP:0430025Bilateral facial palsy1LAMB2 CL E G H391398915ORPHA16776487150325
HP:0010628HP:0012799Unilateral facial palsy1LAMB2 CL E G H391398915ORPHA16776487150325
HP:0010628HP:0004661Frontalis muscle weakness1LAMB2 CL E G H391398915ORPHA16776487150325
HP:0010628HP:0001349Facial diplegia1LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM16586511603590
HP:0010628HP:0012799Unilateral facial palsy1LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM16586511603590
HP:0010628HP:0430025Bilateral facial palsy1LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM16586511603590
HP:0010628HP:0004661Frontalis muscle weakness1LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM16586511603590
HP:0010628HP:0004661Frontalis muscle weakness1LMOD3 CL E G H56203616165Nemaline myopathy 10616165C4015360OMIM13266649616112
HP:0010628HP:0001349Facial diplegia1LMOD3 CL E G H56203616165Nemaline myopathy 10616165C4015360OMIM13266649616112
HP:0010628HP:0430025Bilateral facial palsy1LMOD3 CL E G H56203616165Nemaline myopathy 10616165C4015360OMIM13266649616112
HP:0010628HP:0012799Unilateral facial palsy1LMOD3 CL E G H56203616165Nemaline myopathy 10616165C4015360OMIM13266649616112
HP:0010628HP:0004661Frontalis muscle weakness1LRP4 CL E G H403898913ORPHA17906696604270
HP:0010628HP:0001349Facial diplegia1LRP4 CL E G H403898913ORPHA17906696604270
HP:0010628HP:0430025Bilateral facial palsy1LRP4 CL E G H403898913ORPHA17906696604270
HP:0010628HP:0012799Unilateral facial palsy1LRP4 CL E G H403898913ORPHA17906696604270
HP:0010628HP:0004661Frontalis muscle weakness1LRP4 CL E G H40383152Kuster syndromeORPHA17906696604270
HP:0010628HP:0001349Facial diplegia1LRP4 CL E G H40383152Kuster syndromeORPHA17906696604270
HP:0010628HP:0430025Bilateral facial palsy1LRP4 CL E G H40383152Kuster syndromeORPHA17906696604270
HP:0010628HP:0012799Unilateral facial palsy1LRP4 CL E G H40383152Kuster syndromeORPHA17906696604270
HP:0010628HP:0001349Facial diplegia1LRP4 CL E G H4038614305Sclerosteosis 2614305C3280402OMIM17906696604270
HP:0010628HP:0430025Bilateral facial palsy1LRP4 CL E G H4038614305Sclerosteosis 2614305C3280402OMIM17906696604270
HP:0010628HP:0012799Unilateral facial palsy1LRP4 CL E G H4038614305Sclerosteosis 2614305C3280402OMIM17906696604270
HP:0010628HP:0004661Frontalis muscle weakness1LRP4 CL E G H4038614305Sclerosteosis 2614305C3280402OMIM17906696604270
HP:0010628HP:0004661Frontalis muscle weakness1LRP5 CL E G H40413416Mathieu De Broca Bony syndromeORPHA113546697603506
HP:0010628HP:0001349Facial diplegia1LRP5 CL E G H40413416Mathieu De Broca Bony syndromeORPHA113546697603506
HP:0010628HP:0012799Unilateral facial palsy1LRP5 CL E G H40413416Mathieu De Broca Bony syndromeORPHA113546697603506
HP:0010628HP:0430025Bilateral facial palsy1LRP5 CL E G H40413416Mathieu De Broca Bony syndromeORPHA113546697603506
HP:0010628HP:0004661Frontalis muscle weakness1MEGF10 CL E G H84466614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset614399C3280679OMIM179429634612453
HP:0010628HP:0001349Facial diplegia1MEGF10 CL E G H84466614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset614399C3280679OMIM179429634612453
HP:0010628HP:0430025Bilateral facial palsy1MEGF10 CL E G H84466614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset614399C3280679OMIM179429634612453
HP:0010628HP:0012799Unilateral facial palsy1MEGF10 CL E G H84466614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset614399C3280679OMIM179429634612453
HP:0010628HP:0001349Facial diplegia1MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM17816205615076
HP:0010628HP:0430025Bilateral facial palsy1MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM17816205615076
HP:0010628HP:0012799Unilateral facial palsy1MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM17816205615076
HP:0010628HP:0004661Frontalis muscle weakness1MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM17816205615076
HP:0010628HP:0001349Facial diplegia1MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM17207448300415
HP:0010628HP:0430025Bilateral facial palsy1MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM17207448300415
HP:0010628HP:0012799Unilateral facial palsy1MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM17207448300415
HP:0010628HP:0004661Frontalis muscle weakness1MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM17207448300415
HP:0010628HP:0004661Frontalis muscle weakness1MTMR2 CL E G H8898601382Charcot-Marie-Tooth disease, type 4B1601382C1832399OMIM14607450603557
HP:0010628HP:0001349Facial diplegia1MTMR2 CL E G H8898601382Charcot-Marie-Tooth disease, type 4B1601382C1832399OMIM14607450603557
HP:0010628HP:0430025Bilateral facial palsy1MTMR2 CL E G H8898601382Charcot-Marie-Tooth disease, type 4B1601382C1832399OMIM14607450603557
HP:0010628HP:0012799Unilateral facial palsy1MTMR2 CL E G H8898601382Charcot-Marie-Tooth disease, type 4B1601382C1832399OMIM14607450603557
HP:0010628HP:0001349Facial diplegia1MUSK CL E G H459398913ORPHA14967525601296
HP:0010628HP:0430025Bilateral facial palsy1MUSK CL E G H459398913ORPHA14967525601296
HP:0010628HP:0012799Unilateral facial palsy1MUSK CL E G H459398913ORPHA14967525601296
HP:0010628HP:0004661Frontalis muscle weakness1MUSK CL E G H459398913ORPHA14967525601296
HP:0010628HP:0001349Facial diplegia1MUSK CL E G H4593616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency616325C4225368OMIM14967525601296
HP:0010628HP:0012799Unilateral facial palsy1MUSK CL E G H4593616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency616325C4225368OMIM14967525601296
HP:0010628HP:0430025Bilateral facial palsy1MUSK CL E G H4593616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency616325C4225368OMIM14967525601296
HP:0010628HP:0004661Frontalis muscle weakness1MUSK CL E G H4593616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency616325C4225368OMIM14967525601296
HP:0010628HP:0004661Frontalis muscle weakness1MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM136127577160760
HP:0010628HP:0001349Facial diplegia1MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM136127577160760
HP:0010628HP:0430025Bilateral facial palsy1MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM136127577160760
HP:0010628HP:0012799Unilateral facial palsy1MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM136127577160760
HP:0010628HP:0001349Facial diplegia1MYH7 CL E G H4625160500Myopathy, distal, 1160500CN074249OMIM136127577160760
HP:0010628HP:0430025Bilateral facial palsy1MYH7 CL E G H4625160500Myopathy, distal, 1160500CN074249OMIM136127577160760
HP:0010628HP:0012799Unilateral facial palsy1MYH7 CL E G H4625160500Myopathy, distal, 1160500CN074249OMIM136127577160760
HP:0010628HP:0004661Frontalis muscle weakness1MYH7 CL E G H4625160500Myopathy, distal, 1160500CN074249OMIM136127577160760
HP:0010628HP:0004661Frontalis muscle weakness1MYMK CL E G H3898271358ORPHA17533778615345
HP:0010628HP:0001349Facial diplegia1MYMK CL E G H3898271358ORPHA17533778615345
HP:0010628HP:0430025Bilateral facial palsy1MYMK CL E G H3898271358ORPHA17533778615345
HP:0010628HP:0012799Unilateral facial palsy1MYMK CL E G H3898271358ORPHA17533778615345
HP:0010628HP:0001349Facial diplegia1MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM17533778615345
HP:0010628HP:0430025Bilateral facial palsy1MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM17533778615345
HP:0010628HP:0012799Unilateral facial palsy1MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM17533778615345
HP:0010628HP:0004661Frontalis muscle weakness1MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM17533778615345
HP:0010628HP:0004661Frontalis muscle weakness1MYPN CL E G H84665617336Nemaline myopathy 11, autosomal recessive617336C4479186OMIM1126323246608517
HP:0010628HP:0001349Facial diplegia1MYPN CL E G H84665617336Nemaline myopathy 11, autosomal recessive617336C4479186OMIM1126323246608517
HP:0010628HP:0430025Bilateral facial palsy1MYPN CL E G H84665617336Nemaline myopathy 11, autosomal recessive617336C4479186OMIM1126323246608517
HP:0010628HP:0012799Unilateral facial palsy1MYPN CL E G H84665617336Nemaline myopathy 11, autosomal recessive617336C4479186OMIM1126323246608517
HP:0010628HP:0004661Frontalis muscle weakness1NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM120626274612803
HP:0010628HP:0001349Facial diplegia1NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM120626274612803
HP:0010628HP:0430025Bilateral facial palsy1NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM120626274612803
HP:0010628HP:0012799Unilateral facial palsy1NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM120626274612803
HP:0010628HP:0001349Facial diplegia1NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM164447720161650
HP:0010628HP:0430025Bilateral facial palsy1NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM164447720161650
HP:0010628HP:0012799Unilateral facial palsy1NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM164447720161650
HP:0010628HP:0004661Frontalis muscle weakness1NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM164447720161650
HP:0010628HP:0001349Facial diplegia1PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1638565602279
HP:0010628HP:0430025Bilateral facial palsy1PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1638565602279
HP:0010628HP:0012799Unilateral facial palsy1PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1638565602279
HP:0010628HP:0004661Frontalis muscle weakness1PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1638565602279
HP:0010628HP:0001349Facial diplegia1PLXND1 CL E G H23129570ORPHA11189107604282
HP:0010628HP:0012799Unilateral facial palsy1PLXND1 CL E G H23129570ORPHA11189107604282
HP:0010628HP:0430025Bilateral facial palsy1PLXND1 CL E G H23129570ORPHA11189107604282
HP:0010628HP:0004661Frontalis muscle weakness1PLXND1 CL E G H23129570ORPHA11189107604282
HP:0010628HP:0004661Frontalis muscle weakness1POLG CL E G H5428254886ORPHA119179179174763
HP:0010628HP:0001349Facial diplegia1POLG CL E G H5428254886ORPHA119179179174763
HP:0010628HP:0012799Unilateral facial palsy1POLG CL E G H5428254886ORPHA119179179174763
HP:0010628HP:0430025Bilateral facial palsy1POLG CL E G H5428254886ORPHA119179179174763
HP:0010628HP:0004661Frontalis muscle weakness1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM119179179174763
HP:0010628HP:0001349Facial diplegia1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM119179179174763
HP:0010628HP:0430025Bilateral facial palsy1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM119179179174763
HP:0010628HP:0012799Unilateral facial palsy1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM119179179174763
HP:0010628HP:0001349Facial diplegia1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM119179179174763
HP:0010628HP:0430025Bilateral facial palsy1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM119179179174763
HP:0010628HP:0012799Unilateral facial palsy1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM119179179174763
HP:0010628HP:0004661Frontalis muscle weakness1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM119179179174763
HP:0010628HP:0004661Frontalis muscle weakness1POLG2 CL E G H11232610131Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4610131C1864668OMIM12409180604983
HP:0010628HP:0001349Facial diplegia1POLG2 CL E G H11232610131Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4610131C1864668OMIM12409180604983
HP:0010628HP:0430025Bilateral facial palsy1POLG2 CL E G H11232610131Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4610131C1864668OMIM12409180604983
HP:0010628HP:0012799Unilateral facial palsy1POLG2 CL E G H11232610131Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4610131C1864668OMIM12409180604983
HP:0010628HP:0001349Facial diplegia1POMT1 CL E G H10585613155Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1613155C3150415OMIM17379202607423
HP:0010628HP:0430025Bilateral facial palsy1POMT1 CL E G H10585613155Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1613155C3150415OMIM17379202607423
HP:0010628HP:0012799Unilateral facial palsy1POMT1 CL E G H10585613155Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1613155C3150415OMIM17379202607423
HP:0010628HP:0004661Frontalis muscle weakness1POMT1 CL E G H10585613155Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1613155C3150415OMIM17379202607423
HP:0010628HP:0004661Frontalis muscle weakness1POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM176619743607439
HP:0010628HP:0001349Facial diplegia1POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM176619743607439
HP:0010628HP:0012799Unilateral facial palsy1POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM176619743607439
HP:0010628HP:0430025Bilateral facial palsy1POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM176619743607439
HP:0010628HP:0001349Facial diplegia1PTDSS1 CL E G H97912658ORPHA11319587612792
HP:0010628HP:0430025Bilateral facial palsy1PTDSS1 CL E G H97912658ORPHA11319587612792
HP:0010628HP:0012799Unilateral facial palsy1PTDSS1 CL E G H97912658ORPHA11319587612792
HP:0010628HP:0004661Frontalis muscle weakness1PTDSS1 CL E G H97912658ORPHA11319587612792
HP:0010628HP:0001349Facial diplegia1PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM144326162617220
HP:0010628HP:0430025Bilateral facial palsy1PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM144326162617220
HP:0010628HP:0012799Unilateral facial palsy1PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM144326162617220
HP:0010628HP:0004661Frontalis muscle weakness1PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM144326162617220
HP:0010628HP:0004661Frontalis muscle weakness1RAPSN CL E G H591398913ORPHA14339863601592
HP:0010628HP:0001349Facial diplegia1RAPSN CL E G H591398913ORPHA14339863601592
HP:0010628HP:0430025Bilateral facial palsy1RAPSN CL E G H591398913ORPHA14339863601592
HP:0010628HP:0012799Unilateral facial palsy1RAPSN CL E G H591398913ORPHA14339863601592
HP:0010628HP:0004661Frontalis muscle weakness1REV3L CL E G H5980570ORPHA11339968602776
HP:0010628HP:0001349Facial diplegia1REV3L CL E G H5980570ORPHA11339968602776
HP:0010628HP:0430025Bilateral facial palsy1REV3L CL E G H5980570ORPHA11339968602776
HP:0010628HP:0012799Unilateral facial palsy1REV3L CL E G H5980570ORPHA11339968602776
HP:0010628HP:0001349Facial diplegia1RYR1 CL E G H6261178145ORPHA1506210483180901
HP:0010628HP:0012799Unilateral facial palsy1RYR1 CL E G H6261178145ORPHA1506210483180901
HP:0010628HP:0430025Bilateral facial palsy1RYR1 CL E G H6261178145ORPHA1506210483180901
HP:0010628HP:0004661Frontalis muscle weakness1RYR1 CL E G H6261178145ORPHA1506210483180901
HP:0010628HP:0001349Facial diplegia1RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1506210483180901
HP:0010628HP:0430025Bilateral facial palsy1RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1506210483180901
HP:0010628HP:0012799Unilateral facial palsy1RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1506210483180901
HP:0010628HP:0004661Frontalis muscle weakness1RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1506210483180901
HP:0010628HP:0001349Facial diplegia1RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1506210483180901
HP:0010628HP:0430025Bilateral facial palsy1RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1506210483180901
HP:0010628HP:0012799Unilateral facial palsy1RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1506210483180901
HP:0010628HP:0004661Frontalis muscle weakness1RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1506210483180901
HP:0010628HP:0001349Facial diplegia1SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM121115924607343
HP:0010628HP:0430025Bilateral facial palsy1SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM121115924607343
HP:0010628HP:0012799Unilateral facial palsy1SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM121115924607343
HP:0010628HP:0004661Frontalis muscle weakness1SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM121115924607343
HP:0010628HP:0001349Facial diplegia1SCN4A CL E G H632998913ORPHA1139110591603967
HP:0010628HP:0430025Bilateral facial palsy1SCN4A CL E G H632998913ORPHA1139110591603967
HP:0010628HP:0012799Unilateral facial palsy1SCN4A CL E G H632998913ORPHA1139110591603967
HP:0010628HP:0004661Frontalis muscle weakness1SCN4A CL E G H632998913ORPHA1139110591603967
HP:0010628HP:0004661Frontalis muscle weakness1SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM153715999606210
HP:0010628HP:0001349Facial diplegia1SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM153715999606210
HP:0010628HP:0430025Bilateral facial palsy1SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM153715999606210
HP:0010628HP:0012799Unilateral facial palsy1SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM153715999606210
HP:0010628HP:0004661Frontalis muscle weakness1SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM153715999606210
HP:0010628HP:0001349Facial diplegia1SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM153715999606210
HP:0010628HP:0430025Bilateral facial palsy1SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM153715999606210
HP:0010628HP:0012799Unilateral facial palsy1SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM153715999606210
HP:0010628HP:0001349Facial diplegia1SEMA3E CL E G H9723138ORPHA145110727608166
HP:0010628HP:0430025Bilateral facial palsy1SEMA3E CL E G H9723138ORPHA145110727608166
HP:0010628HP:0012799Unilateral facial palsy1SEMA3E CL E G H9723138ORPHA145110727608166
HP:0010628HP:0004661Frontalis muscle weakness1SEMA3E CL E G H9723138ORPHA145110727608166
HP:0010628HP:0004661Frontalis muscle weakness1SGCD CL E G H6444219Congenital giant megaureterORPHA158710807601411
HP:0010628HP:0001349Facial diplegia1SGCD CL E G H6444219Congenital giant megaureterORPHA158710807601411
HP:0010628HP:0012799Unilateral facial palsy1SGCD CL E G H6444219Congenital giant megaureterORPHA158710807601411
HP:0010628HP:0430025Bilateral facial palsy1SGCD CL E G H6444219Congenital giant megaureterORPHA158710807601411
HP:0010628HP:0004661Frontalis muscle weakness1SH3TC2 CL E G H79628601596Charcot-Marie-Tooth disease, type 4C601596C1866636OMIM1148329427608206
HP:0010628HP:0001349Facial diplegia1SH3TC2 CL E G H79628601596Charcot-Marie-Tooth disease, type 4C601596C1866636OMIM1148329427608206
HP:0010628HP:0012799Unilateral facial palsy1SH3TC2 CL E G H79628601596Charcot-Marie-Tooth disease, type 4C601596C1866636OMIM1148329427608206
HP:0010628HP:0430025Bilateral facial palsy1SH3TC2 CL E G H79628601596Charcot-Marie-Tooth disease, type 4C601596C1866636OMIM1148329427608206
HP:0010628HP:0004661Frontalis muscle weakness1SLC18A3 CL E G H6572617239Myasthenic syndrome, congenital, 21, presynaptic617239C4310654OMIM121510936600336
HP:0010628HP:0001349Facial diplegia1SLC18A3 CL E G H6572617239Myasthenic syndrome, congenital, 21, presynaptic617239C4310654OMIM121510936600336
HP:0010628HP:0430025Bilateral facial palsy1SLC18A3 CL E G H6572617239Myasthenic syndrome, congenital, 21, presynaptic617239C4310654OMIM121510936600336
HP:0010628HP:0012799Unilateral facial palsy1SLC18A3 CL E G H6572617239Myasthenic syndrome, congenital, 21, presynaptic617239C4310654OMIM121510936600336
HP:0010628HP:0001349Facial diplegia1SLC25A4 CL E G H291609283Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2609283C1836460OMIM127810990103220
HP:0010628HP:0430025Bilateral facial palsy1SLC25A4 CL E G H291609283Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2609283C1836460OMIM127810990103220
HP:0010628HP:0012799Unilateral facial palsy1SLC25A4 CL E G H291609283Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2609283C1836460OMIM127810990103220
HP:0010628HP:0004661Frontalis muscle weakness1SLC25A4 CL E G H291609283Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2609283C1836460OMIM127810990103220
HP:0010628HP:0001349Facial diplegia1SLC39A14 CL E G H23516144755Hyperostosis cranialis interna144755C1840404OMIM117620858608736
HP:0010628HP:0430025Bilateral facial palsy1SLC39A14 CL E G H23516144755Hyperostosis cranialis interna144755C1840404OMIM117620858608736
HP:0010628HP:0012799Unilateral facial palsy1SLC39A14 CL E G H23516144755Hyperostosis cranialis interna144755C1840404OMIM117620858608736
HP:0010628HP:0004661Frontalis muscle weakness1SLC39A14 CL E G H23516144755Hyperostosis cranialis interna144755C1840404OMIM117620858608736
HP:0010628HP:0001349Facial diplegia1SLC52A2 CL E G H7958197229ORPHA145830224607882
HP:0010628HP:0430025Bilateral facial palsy1SLC52A2 CL E G H7958197229ORPHA145830224607882
HP:0010628HP:0012799Unilateral facial palsy1SLC52A2 CL E G H7958197229ORPHA145830224607882
HP:0010628HP:0004661Frontalis muscle weakness1SLC52A2 CL E G H7958197229ORPHA145830224607882
HP:0010628HP:0001349Facial diplegia1SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM145830224607882
HP:0010628HP:0012799Unilateral facial palsy1SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM145830224607882
HP:0010628HP:0430025Bilateral facial palsy1SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM145830224607882
HP:0010628HP:0004661Frontalis muscle weakness1SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM145830224607882
HP:0010628HP:0004661Frontalis muscle weakness1SLC52A3 CL E G H11327897229ORPHA139916187613350
HP:0010628HP:0001349Facial diplegia1SLC52A3 CL E G H11327897229ORPHA139916187613350
HP:0010628HP:0012799Unilateral facial palsy1SLC52A3 CL E G H11327897229ORPHA139916187613350
HP:0010628HP:0430025Bilateral facial palsy1SLC52A3 CL E G H11327897229ORPHA139916187613350
HP:0010628HP:0001349Facial diplegia1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM139916187613350
HP:0010628HP:0430025Bilateral facial palsy1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM139916187613350
HP:0010628HP:0012799Unilateral facial palsy1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM139916187613350
HP:0010628HP:0004661Frontalis muscle weakness1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM139916187613350
HP:0010628HP:0004661Frontalis muscle weakness1SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM137514025608761
HP:0010628HP:0001349Facial diplegia1SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM137514025608761
HP:0010628HP:0430025Bilateral facial palsy1SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM137514025608761
HP:0010628HP:0012799Unilateral facial palsy1SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM137514025608761
HP:0010628HP:0004661Frontalis muscle weakness1SNX10 CL E G H29887615085Osteopetrosis, autosomal recessive 8615085C3554478OMIM111114974614780
HP:0010628HP:0001349Facial diplegia1SNX10 CL E G H29887615085Osteopetrosis, autosomal recessive 8615085C3554478OMIM111114974614780
HP:0010628HP:0012799Unilateral facial palsy1SNX10 CL E G H29887615085Osteopetrosis, autosomal recessive 8615085C3554478OMIM111114974614780
HP:0010628HP:0430025Bilateral facial palsy1SNX10 CL E G H29887615085Osteopetrosis, autosomal recessive 8615085C3554478OMIM111114974614780
HP:0010628HP:0001349Facial diplegia1SOST CL E G H509643152Kuster syndromeORPHA18513771605740
HP:0010628HP:0430025Bilateral facial palsy1SOST CL E G H509643152Kuster syndromeORPHA18513771605740
HP:0010628HP:0012799Unilateral facial palsy1SOST CL E G H509643152Kuster syndromeORPHA18513771605740
HP:0010628HP:0004661Frontalis muscle weakness1SOST CL E G H509643152Kuster syndromeORPHA18513771605740
HP:0010628HP:0001349Facial diplegia1SOST CL E G H509643416Mathieu De Broca Bony syndromeORPHA18513771605740
HP:0010628HP:0430025Bilateral facial palsy1SOST CL E G H509643416Mathieu De Broca Bony syndromeORPHA18513771605740
HP:0010628HP:0012799Unilateral facial palsy1SOST CL E G H509643416Mathieu De Broca Bony syndromeORPHA18513771605740
HP:0010628HP:0004661Frontalis muscle weakness1SOST CL E G H509643416Mathieu De Broca Bony syndromeORPHA18513771605740
HP:0010628HP:0001349Facial diplegia1SOST CL E G H50964269500Sclerosteosis 1269500CN032489OMIM18513771605740
HP:0010628HP:0430025Bilateral facial palsy1SOST CL E G H50964269500Sclerosteosis 1269500CN032489OMIM18513771605740
HP:0010628HP:0012799Unilateral facial palsy1SOST CL E G H50964269500Sclerosteosis 1269500CN032489OMIM18513771605740
HP:0010628HP:0004661Frontalis muscle weakness1SOST CL E G H50964269500Sclerosteosis 1269500CN032489OMIM18513771605740
HP:0010628HP:0001349Facial diplegia1SPEG CL E G H10290615959Myopathy, centronuclear, 5615959C4014814OMIM190716901615950
HP:0010628HP:0430025Bilateral facial palsy1SPEG CL E G H10290615959Myopathy, centronuclear, 5615959C4014814OMIM190716901615950
HP:0010628HP:0012799Unilateral facial palsy1SPEG CL E G H10290615959Myopathy, centronuclear, 5615959C4014814OMIM190716901615950
HP:0010628HP:0004661Frontalis muscle weakness1SPEG CL E G H10290615959Myopathy, centronuclear, 5615959C4014814OMIM190716901615950
HP:0010628HP:0001349Facial diplegia1SPTBN4 CL E G H57731617519Myopathy, congenital, with neuropathy and deafness617519C4479603OMIM114014896606214
HP:0010628HP:0430025Bilateral facial palsy1SPTBN4 CL E G H57731617519Myopathy, congenital, with neuropathy and deafness617519C4479603OMIM114014896606214
HP:0010628HP:0012799Unilateral facial palsy1SPTBN4 CL E G H57731617519Myopathy, congenital, with neuropathy and deafness617519C4479603OMIM114014896606214
HP:0010628HP:0004661Frontalis muscle weakness1SPTBN4 CL E G H57731617519Myopathy, congenital, with neuropathy and deafness617519C4479603OMIM114014896606214
HP:0010628HP:0001349Facial diplegia1SQSTM1 CL E G H8878617158Distal myopathy with rimmed vacuoles617158CN239822OMIM154211280601530
HP:0010628HP:0430025Bilateral facial palsy1SQSTM1 CL E G H8878617158Distal myopathy with rimmed vacuoles617158CN239822OMIM154211280601530
HP:0010628HP:0012799Unilateral facial palsy1SQSTM1 CL E G H8878617158Distal myopathy with rimmed vacuoles617158CN239822OMIM154211280601530
HP:0010628HP:0004661Frontalis muscle weakness1SQSTM1 CL E G H8878617158Distal myopathy with rimmed vacuoles617158CN239822OMIM154211280601530
HP:0010628HP:0004661Frontalis muscle weakness1TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM186011647604592
HP:0010628HP:0001349Facial diplegia1TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM186011647604592
HP:0010628HP:0430025Bilateral facial palsy1TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM186011647604592
HP:0010628HP:0012799Unilateral facial palsy1TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM186011647604592
HP:0010628HP:0001349Facial diplegia1TK2 CL E G H7084254886ORPHA135611831188250
HP:0010628HP:0430025Bilateral facial palsy1TK2 CL E G H7084254886ORPHA135611831188250
HP:0010628HP:0012799Unilateral facial palsy1TK2 CL E G H7084254886ORPHA135611831188250
HP:0010628HP:0004661Frontalis muscle weakness1TK2 CL E G H7084254886ORPHA135611831188250
HP:0010628HP:0004661Frontalis muscle weakness1TK2 CL E G H7084617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3617069C4310734OMIM135611831188250
HP:0010628HP:0001349Facial diplegia1TK2 CL E G H7084617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3617069C4310734OMIM135611831188250
HP:0010628HP:0430025Bilateral facial palsy1TK2 CL E G H7084617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3617069C4310734OMIM135611831188250
HP:0010628HP:0012799Unilateral facial palsy1TK2 CL E G H7084617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3617069C4310734OMIM135611831188250
HP:0010628HP:0001349Facial diplegia1TPM2 CL E G H7169255310Congenital myopathy with fiber type disproportion255310C0546264OMIM128012011190990
HP:0010628HP:0430025Bilateral facial palsy1TPM2 CL E G H7169255310Congenital myopathy with fiber type disproportion255310C0546264OMIM128012011190990
HP:0010628HP:0012799Unilateral facial palsy1TPM2 CL E G H7169255310Congenital myopathy with fiber type disproportion255310C0546264OMIM128012011190990
HP:0010628HP:0004661Frontalis muscle weakness1TPM2 CL E G H7169255310Congenital myopathy with fiber type disproportion255310C0546264OMIM128012011190990
HP:0010628HP:0004661Frontalis muscle weakness1TPM3 CL E G H7170255310Congenital myopathy with fiber type disproportion255310C0546264OMIM130012012191030
HP:0010628HP:0001349Facial diplegia1TPM3 CL E G H7170255310Congenital myopathy with fiber type disproportion255310C0546264OMIM130012012191030
HP:0010628HP:0430025Bilateral facial palsy1TPM3 CL E G H7170255310Congenital myopathy with fiber type disproportion255310C0546264OMIM130012012191030
HP:0010628HP:0012799Unilateral facial palsy1TPM3 CL E G H7170255310Congenital myopathy with fiber type disproportion255310C0546264OMIM130012012191030
HP:0010628HP:0001349Facial diplegia1TRIM32 CL E G H22954254110Sarcotubular myopathy254110C0270968OMIM151616380602290
HP:0010628HP:0012799Unilateral facial palsy1TRIM32 CL E G H22954254110Sarcotubular myopathy254110C0270968OMIM151616380602290
HP:0010628HP:0430025Bilateral facial palsy1TRIM32 CL E G H22954254110Sarcotubular myopathy254110C0270968OMIM151616380602290
HP:0010628HP:0004661Frontalis muscle weakness1TRIM32 CL E G H22954254110Sarcotubular myopathy254110C0270968OMIM151616380602290
HP:0010628HP:0004661Frontalis muscle weakness1TRPV4 CL E G H59341181405Scapuloperoneal spinal muscular atrophy181405C0751335OMIM189118083605427
HP:0010628HP:0001349Facial diplegia1TRPV4 CL E G H59341181405Scapuloperoneal spinal muscular atrophy181405C0751335OMIM189118083605427
HP:0010628HP:0430025Bilateral facial palsy1TRPV4 CL E G H59341181405Scapuloperoneal spinal muscular atrophy181405C0751335OMIM189118083605427
HP:0010628HP:0012799Unilateral facial palsy1TRPV4 CL E G H59341181405Scapuloperoneal spinal muscular atrophy181405C0751335OMIM189118083605427
HP:0010628HP:0001349Facial diplegia1TTN CL E G H7273611705Myopathy, early-onset, with fatal cardiomyopathy611705C2673677OMIM12285912403188840
HP:0010628HP:0430025Bilateral facial palsy1TTN CL E G H7273611705Myopathy, early-onset, with fatal cardiomyopathy611705C2673677OMIM12285912403188840
HP:0010628HP:0012799Unilateral facial palsy1TTN CL E G H7273611705Myopathy, early-onset, with fatal cardiomyopathy611705C2673677OMIM12285912403188840
HP:0010628HP:0004661Frontalis muscle weakness1TTN CL E G H7273611705Myopathy, early-onset, with fatal cardiomyopathy611705C2673677OMIM12285912403188840
HP:0010628HP:0004661Frontalis muscle weakness1UBA1 CL E G H7317301830Spinal muscular atrophy, X-linked 2301830C1844934OMIM153112469314370
HP:0010628HP:0001349Facial diplegia1UBA1 CL E G H7317301830Spinal muscular atrophy, X-linked 2301830C1844934OMIM153112469314370
HP:0010628HP:0012799Unilateral facial palsy1UBA1 CL E G H7317301830Spinal muscular atrophy, X-linked 2301830C1844934OMIM153112469314370
HP:0010628HP:0430025Bilateral facial palsy1UBA1 CL E G H7317301830Spinal muscular atrophy, X-linked 2301830C1844934OMIM153112469314370
HP:0010628HP:0004661Frontalis muscle weakness1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM123724931300897
HP:0010628HP:0001349Facial diplegia1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM123724931300897
HP:0010628HP:0430025Bilateral facial palsy1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM123724931300897
HP:0010628HP:0012799Unilateral facial palsy1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM123724931300897
HP:0010628HP:0007188Congenital facial diplegia2ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM132890606885
HP:0010628HP:0007188Congenital facial diplegia2ACTA1 CL E G H5897240ORPHA1392129102610
HP:0010628HP:0007188Congenital facial diplegia2ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1392129102610
HP:0010628HP:0007188Congenital facial diplegia2ACTA1 CL E G H58616852Myopathy, scapulohumeroperoneal616852C4225181OMIM1392129102610
HP:0010628HP:0007188Congenital facial diplegia2ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0010628HP:0007188Congenital facial diplegia2ADA2 CL E G H51816182410Idiopathic livedo reticularis with systemic involvement182410C0282492OMIM14341839607575
HP:0010628HP:0007188Congenital facial diplegia2ADSSL1 CL E G H122622617030Myopathy, distal, 5617030C4310754OMIM120093612498
HP:0010628HP:0007188Congenital facial diplegia2AGRN CL E G H37579098913ORPHA11782329103320
HP:0010628HP:0007188Congenital facial diplegia2AGRN CL E G H375790615120Myasthenic syndrome, congenital, 8615120C3808739OMIM11782329103320
HP:0010628HP:0007188Congenital facial diplegia2AK9 CL E G H22126498913ORPHA14833814615358
HP:0010628HP:0007188Congenital facial diplegia2AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM129326837300647
HP:0010628HP:0007188Congenital facial diplegia2ANKH CL E G H56172123000Craniometaphyseal dysplasia, autosomal dominant123000C1852502OMIM145715492605145
HP:0010628HP:0007188Congenital facial diplegia2ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM197227337608662
HP:0010628HP:0007188Congenital facial diplegia2ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1712735613468
HP:0010628HP:0007188Congenital facial diplegia2BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1856939603883
HP:0010628HP:0007188Congenital facial diplegia2BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM15521052601248
HP:0010628HP:0007188Congenital facial diplegia2CHCHD10 CL E G H400916616209Myopathy, isolated mitochondrial, autosomal dominant616209C4015513OMIM124815559615903
HP:0010628HP:0007188Congenital facial diplegia2CHD7 CL E G H55636138ORPHA1231820626608892
HP:0010628HP:0007188Congenital facial diplegia2CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM14191938612395
HP:0010628HP:0007188Congenital facial diplegia2CHRNA1 CL E G H113498913ORPHA13981955100690
HP:0010628HP:0007188Congenital facial diplegia2CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0010628HP:0007188Congenital facial diplegia2CHRNB1 CL E G H114098913ORPHA13571961100710
HP:0010628HP:0007188Congenital facial diplegia2CHRNB1 CL E G H1140616313Myasthenic syndrome, congenital, 2a, slow-channel616313C4225374OMIM13571961100710
HP:0010628HP:0007188Congenital facial diplegia2CHRND CL E G H114498913ORPHA14081965100720
HP:0010628HP:0007188Congenital facial diplegia2CHRND CL E G H1144616322Myasthenic syndrome, congenital, 3b, fast-channel616322C4225371OMIM14081965100720
HP:0010628HP:0007188Congenital facial diplegia2CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM14081965100720
HP:0010628HP:0007188Congenital facial diplegia2CHRNE CL E G H114598913ORPHA17951966100725
HP:0010628HP:0007188Congenital facial diplegia2CHRNE CL E G H1145616324Myasthenic syndrome, congenital, 4b, fast-channel616324C4225369OMIM17951966100725
HP:0010628HP:0007188Congenital facial diplegia2CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM17951966100725
HP:0010628HP:0007188Congenital facial diplegia2CLCF1 CL E G H23529610313Cold-induced sweating syndrome 2610313C1853198OMIM13317412607672
HP:0010628HP:0007188Congenital facial diplegia2CLCN7 CL E G H118653ORPHA17292025602727
HP:0010628HP:0007188Congenital facial diplegia2CLCN7 CL E G H1186166600Osteopetrosis autosomal dominant type 2166600C3179239OMIM17292025602727
HP:0010628HP:0007188Congenital facial diplegia2CLCN7 CL E G H1186611490Osteopetrosis autosomal recessive 4611490C1969106OMIM17292025602727
HP:0010628HP:0007188Congenital facial diplegia2COL12A1 CL E G H1303616470Ullrich congenital muscular dystrophy 2616470C4225314OMIM119442188120320
HP:0010628HP:0007188Congenital facial diplegia2COL13A1 CL E G H130598913ORPHA13972190120350
HP:0010628HP:0007188Congenital facial diplegia2COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM114702211120220
HP:0010628HP:0007188Congenital facial diplegia2COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM116442212120240
HP:0010628HP:0007188Congenital facial diplegia2COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM116442212120240
HP:0010628HP:0007188Congenital facial diplegia2COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM124142213120250
HP:0010628HP:0007188Congenital facial diplegia2COLQ CL E G H829298915ORPHA14652226603033
HP:0010628HP:0007188Congenital facial diplegia2CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM1802364604237
HP:0010628HP:0007188Congenital facial diplegia2DCTN1 CL E G H1639607641Distal hereditary motor neuronopathy type 7B607641C1843315OMIM18582711601143
HP:0010628HP:0007188Congenital facial diplegia2DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM18182770125660
HP:0010628HP:0007188Congenital facial diplegia2DMPK CL E G H1760273ORPHA12352933605377
HP:0010628HP:0007188Congenital facial diplegia2DNA2 CL E G H1763615156Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6615156C3554599OMIM13312939601810
HP:0010628HP:0007188Congenital facial diplegia2DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM18852974602378
HP:0010628HP:0007188Congenital facial diplegia2DOK7 CL E G H28548998913ORPHA184026594610285
HP:0010628HP:0007188Congenital facial diplegia2DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM184026594610285
HP:0010628HP:0007188Congenital facial diplegia2FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0010628HP:0007188Congenital facial diplegia2FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11263954601278
HP:0010628HP:0007188Congenital facial diplegia2GAN CL E G H8139643ORPHA16614137605379
HP:0010628HP:0007188Congenital facial diplegia2GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM16614137605379
HP:0010628HP:0007188Congenital facial diplegia2GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM14534241138292
HP:0010628HP:0007188Congenital facial diplegia2GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14534241138292
HP:0010628HP:0007188Congenital facial diplegia2GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM12214274121014
HP:0010628HP:0007188Congenital facial diplegia2GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM125017494608803
HP:0010628HP:0007188Congenital facial diplegia2HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1325111142968
HP:0010628HP:0007188Congenital facial diplegia2KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM137830372615340
HP:0010628HP:0007188Congenital facial diplegia2KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM18726576605739
HP:0010628HP:0007188Congenital facial diplegia2LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA132836482156225
HP:0010628HP:0007188Congenital facial diplegia2LAMB2 CL E G H391398915ORPHA16776487150325
HP:0010628HP:0007188Congenital facial diplegia2LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM16586511603590
HP:0010628HP:0007188Congenital facial diplegia2LMOD3 CL E G H56203616165Nemaline myopathy 10616165C4015360OMIM13266649616112
HP:0010628HP:0007188Congenital facial diplegia2LRP4 CL E G H403898913ORPHA17906696604270
HP:0010628HP:0007188Congenital facial diplegia2LRP4 CL E G H40383152Kuster syndromeORPHA17906696604270
HP:0010628HP:0007188Congenital facial diplegia2LRP4 CL E G H4038614305Sclerosteosis 2614305C3280402OMIM17906696604270
HP:0010628HP:0007188Congenital facial diplegia2LRP5 CL E G H40413416Mathieu De Broca Bony syndromeORPHA113546697603506
HP:0010628HP:0007188Congenital facial diplegia2MEGF10 CL E G H84466614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset614399C3280679OMIM179429634612453
HP:0010628HP:0007188Congenital facial diplegia2MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM17816205615076
HP:0010628HP:0007188Congenital facial diplegia2MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM17207448300415
HP:0010628HP:0007188Congenital facial diplegia2MTMR2 CL E G H8898601382Charcot-Marie-Tooth disease, type 4B1601382C1832399OMIM14607450