Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the face (HP:0000271)help
Parent Node:
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Abnormal facial expression (HP:0005346)help
..Starting node
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Decreased facial expression (HP:0004673)help
Term ID: 4673
Name: Decreased facial expression
Synonym: Decreased facial expression
Definition: A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions.
Comments:
Reference: HP:0004673
Genes and Diseases:
 
       Child Nodes:
........expandMask-like facies (HP:0000298) help
........expandHypomimic face (HP:0000338) help
........expandMyopathic facies (HP:0002058) help
........expandLoss of facial expression (HP:0005327) help
........expandFixed facial expression (HP:0005329) help

 Sister Nodes: 
..expandDisturbance of facial expression (HP:0005324) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004673HP:0004673Decreased facial expression0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathy96
HP:0004673HP:0004673Decreased facial expression0ACTA1 CL E G H58129ORPHA:171433Intermediate nemaline myopathy96
HP:0004673HP:0004673Decreased facial expression0ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 396
HP:0004673HP:0004673Decreased facial expression0ADH1C CL E G H126251OMIM:168600Parkinson disease, late-onset4
HP:0004673HP:0004673Decreased facial expression0ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndromeHP:0040283 - Occasional49
HP:0004673HP:0004673Decreased facial expression0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0004673HP:0004673Decreased facial expression0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndrome100
HP:0004673HP:0004673Decreased facial expression0ATP1A3 CL E G H478801OMIM:128235Dystonia 12150
HP:0004673HP:0004673Decreased facial expression0ATP1A3 CL E G H478801ORPHA:71517Rapid-onset dystonia-parkinsonism150
HP:0004673HP:0004673Decreased facial expression0ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0004673HP:0004673Decreased facial expression0ATP6AP2 CL E G H1015918305OMIM:300911Parkinsonism with spasticity, X-linked36
HP:0004673HP:0004673Decreased facial expression0ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera type36
HP:0004673HP:0004673Decreased facial expression0ATP6AP2 CL E G H1015918305ORPHA:363654X-linked parkinsonism-spasticity syndrome36
HP:0004673HP:0004673Decreased facial expression0ATP6V1A CL E G H523851OMIM:617403Cutis laxa, autosomal recessive, type IID3
HP:0004673HP:0004673Decreased facial expression0ATP7A CL E G H538869ORPHA:565Menkes disease192
HP:0004673HP:0004673Decreased facial expression0ATXN2 CL E G H631110555OMIM:168600Parkinson disease, late-onset11
HP:0004673HP:0004673Decreased facial expression0ATXN8OS CL E G H631510561OMIM:168600Parkinson disease, late-onset1
HP:0004673HP:0004673Decreased facial expression0BCL11B CL E G H6491913222OMIM:617237Immunodeficiency 493
HP:0004673HP:0004673Decreased facial expression0BCL11B CL E G H6491913222OMIM:618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES3
HP:0004673HP:0004673Decreased facial expression0CC2D1A CL E G H5486230237OMIM:608443Mental retardation, autosomal recessive 357
HP:0004673HP:0004673Decreased facial expression0CCDC174 CL E G H5124428033OMIM:616816Hypotonia, infantile, with psychomotor retardation1
HP:0004673HP:0004673Decreased facial expression0CERT1 CL E G H100872205OMIM:616351Mental retardation, autosomal dominant 34
HP:0004673HP:0004673Decreased facial expression0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 561
HP:0004673HP:0004673Decreased facial expression0COL25A1 CL E G H8457018603ORPHA:1143Neurogenic arthrogryposis multiplex congenita3
HP:0004673HP:0004673Decreased facial expression0DCTN1 CL E G H16392711OMIM:168605Perry syndrome86
HP:0004673HP:0004673Decreased facial expression0DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive29
HP:0004673HP:0004673Decreased facial expression0DLK1 CL E G H87882907ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional1
HP:0004673HP:0004673Decreased facial expression0DMXL2 CL E G H233122938OMIM:618663DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE813
HP:0004673HP:0004673Decreased facial expression0DNA2 CL E G H17632939ORPHA:352470DNA2-related mitochondrial DNA deletion syndromeHP:0040282 - Frequent41
HP:0004673HP:0004673Decreased facial expression0DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0004673HP:0004673Decreased facial expression0DNAJC6 CL E G H982915469ORPHA:391411Atypical juvenile parkinsonism6
HP:0004673HP:0004673Decreased facial expression0DNAJC6 CL E G H982915469OMIM:615528Parkinson disease 19a, juvenile-onset6
HP:0004673HP:0004673Decreased facial expression0DNMT3B CL E G H17892979ORPHA:269Facioscapulohumeral dystrophy79
HP:0004673HP:0004673Decreased facial expression0DPM2 CL E G H88183006OMIM:615042Congenital disorder of glycosylation, type Iu26
HP:0004673HP:0004673Decreased facial expression0DPM2 CL E G H88183006ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsy26
HP:0004673HP:0004673Decreased facial expression0DUX4 CL E G H10028868750800ORPHA:269Facioscapulohumeral dystrophy
HP:0004673HP:0004673Decreased facial expression0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0004673HP:0004673Decreased facial expression0EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0004673HP:0004673Decreased facial expression0EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0004673HP:0004673Decreased facial expression0ERGIC1 CL E G H5722229205ORPHA:1143Neurogenic arthrogryposis multiplex congenita
HP:0004673HP:0004673Decreased facial expression0FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 3576
HP:0004673HP:0004673Decreased facial expression0FBXO7 CL E G H2579313586OMIM:260300Parkinson disease 15, autosomal recessive early-onset36
HP:0004673HP:0004673Decreased facial expression0FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndrome36
HP:0004673HP:0004673Decreased facial expression0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1157
HP:0004673HP:0004673Decreased facial expression0FKTN CL E G H22183622ORPHA:272Congenital muscular dystrophy, Fukuyama type184
HP:0004673HP:0004673Decreased facial expression0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1184
HP:0004673HP:0004673Decreased facial expression0FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome30
HP:0004673HP:0004673Decreased facial expression0FRG1 CL E G H24833954ORPHA:269Facioscapulohumeral dystrophy1
HP:0004673HP:0004673Decreased facial expression0FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 333
HP:0004673HP:0004673Decreased facial expression0FTL CL E G H25123999ORPHA:157846Neuroferritinopathy33
HP:0004673HP:0004673Decreased facial expression0GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson disease
HP:0004673HP:0004673Decreased facial expression0GBA1 CL E G H26294177OMIM:168600Parkinson disease, late-onset
HP:0004673HP:0004673Decreased facial expression0GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 3943
HP:0004673HP:0004673Decreased facial expression0GFM2 CL E G H8434029682OMIM:618397Combined oxidative phosphorylation deficiency 3943
HP:0004673HP:0004673Decreased facial expression0GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson disease8
HP:0004673HP:0004673Decreased facial expression0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0004673HP:0004673Decreased facial expression0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease45
HP:0004673HP:0004673Decreased facial expression0GLUD2 CL E G H27474336OMIM:168600Parkinson disease, late-onset1
HP:0004673HP:0004673Decreased facial expression0GMPPB CL E G H2992522932OMIM:615351MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1434
HP:0004673HP:0004673Decreased facial expression0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathy2
HP:0004673HP:0004673Decreased facial expression0HLA-DQB1 CL E G H31194944OMIM:123400Creutzfeldt-Jakob disease
HP:0004673HP:0004673Decreased facial expression0HOXB1 CL E G H32115111OMIM:614744Facial paresis, hereditary congenital, 32
HP:0004673HP:0004673Decreased facial expression0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndrome345
HP:0004673HP:0004673Decreased facial expression0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1345
HP:0004673HP:0004673Decreased facial expression0ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathy127
HP:0004673HP:0004673Decreased facial expression0ITPR1 CL E G H37086180ORPHA:1065Aniridia-cerebellar ataxia-intellectual disability syndrome177
HP:0004673HP:0004673Decreased facial expression0JAM2 CL E G H5849414686OMIM:618824BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0004673HP:0004673Decreased facial expression0KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndrome13
HP:0004673HP:0004673Decreased facial expression0KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome13
HP:0004673HP:0004673Decreased facial expression0KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndrome3
HP:0004673HP:0004673Decreased facial expression0KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel type4
HP:0004673HP:0004673Decreased facial expression0KDM6A CL E G H740312637ORPHA:2322Kabuki syndrome53
HP:0004673HP:0004673Decreased facial expression0KLHL41 CL E G H1032416905ORPHA:171433Intermediate nemaline myopathy13
HP:0004673HP:0004673Decreased facial expression0KMT2D CL E G H80857133ORPHA:2322Kabuki syndrome660
HP:0004673HP:0004673Decreased facial expression0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0004673HP:0004673Decreased facial expression0LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophy411
HP:0004673HP:0004673Decreased facial expression0LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1136
HP:0004673HP:0004673Decreased facial expression0LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1
HP:0004673HP:0004673Decreased facial expression0LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson disease221
HP:0004673HP:0004673Decreased facial expression0MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathy2
HP:0004673HP:0004673Decreased facial expression0MAPT CL E G H41376893OMIM:168600Parkinson disease, late-onset140
HP:0004673HP:0004673Decreased facial expression0MAPT CL E G H41376893ORPHA:240094Progressive supranuclear palsy-pure akinesia with gait freezing syndrome140
HP:0004673HP:0004673Decreased facial expression0MEG3 CL E G H5538414575ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional1
HP:0004673HP:0004673Decreased facial expression0MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorder532
HP:0004673HP:0004673Decreased facial expression0MSTO1 CL E G H5515429678OMIM:617675Myopathy, mitochondrial, and ataxia
HP:0004673HP:0004673Decreased facial expression0MYH2 CL E G H46207572OMIM:605637Myopathy, proximal, and ophthalmoplegia105
HP:0004673HP:0004673Decreased facial expression0MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A166
HP:0004673HP:0004673Decreased facial expression0MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophy1269
HP:0004673HP:0004673Decreased facial expression0MYH7 CL E G H46257577OMIM:255160Myopathy, myosin storage, autosomal recessive1269
HP:0004673HP:0004673Decreased facial expression0MYL1 CL E G H46327582OMIM:618414Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0004673HP:0004673Decreased facial expression0MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathy131
HP:0004673HP:0004673Decreased facial expression0MYMX CL E G H10192972652391OMIM:619941
HP:0004673HP:0004673Decreased facial expression0NEB CL E G H47037720ORPHA:171433Intermediate nemaline myopathy745
HP:0004673HP:0004673Decreased facial expression0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0004673HP:0004673Decreased facial expression0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathy
HP:0004673HP:0004673Decreased facial expression0NR4A2 CL E G H49297981OMIM:168600Parkinson disease, late-onset27
HP:0004673HP:0004673Decreased facial expression0OGDHL CL E G H5575325590OMIM:619701YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN3
HP:0004673HP:0004673Decreased facial expression0PABPN1 CL E G H81068565OMIM:164300Oculopharyngeal muscular dystrophy10
HP:0004673HP:0004673Decreased facial expression0PABPN1 CL E G H81068565ORPHA:270Oculopharyngeal muscular dystrophy10
HP:0004673HP:0004673Decreased facial expression0PANK2 CL E G H8002515894ORPHA:216866Classic pantothenate kinase-associated neurodegeneration55
HP:0004673HP:0004673Decreased facial expression0PAX6 CL E G H50808620ORPHA:1065Aniridia-cerebellar ataxia-intellectual disability syndrome194
HP:0004673HP:0004673Decreased facial expression0PDGFB CL E G H51558800OMIM:213600Basal ganglia calcification, idiopathic, 19
HP:0004673HP:0004673Decreased facial expression0PDGFRB CL E G H51598804OMIM:213600Basal ganglia calcification, idiopathic, 128
HP:0004673HP:0004673Decreased facial expression0PIEZO2 CL E G H6389526270OMIM:108145Arthrogryposis, distal, type 5.77
HP:0004673HP:0004673Decreased facial expression0PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch77
HP:0004673HP:0004673Decreased facial expression0PIEZO2 CL E G H6389526270OMIM:248700Marden-Walker syndrome77
HP:0004673HP:0004673Decreased facial expression0PIEZO2 CL E G H6389526270ORPHA:2461Marden-Walker syndrome77
HP:0004673HP:0004673Decreased facial expression0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0004673HP:0004673Decreased facial expression0PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonism133
HP:0004673HP:0004673Decreased facial expression0PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0004673HP:0004673Decreased facial expression0PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies3
HP:0004673HP:0004673Decreased facial expression0PLXND1 CL E G H231299107ORPHA:570Moebius syndrome
HP:0004673HP:0004673Decreased facial expression0PODXL CL E G H54209171ORPHA:391411Atypical juvenile parkinsonism6
HP:0004673HP:0004673Decreased facial expression0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegia464
HP:0004673HP:0004673Decreased facial expression0POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegia464
HP:0004673HP:0004673Decreased facial expression0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegia45
HP:0004673HP:0004673Decreased facial expression0POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1213
HP:0004673HP:0004673Decreased facial expression0POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1221
HP:0004673HP:0004673Decreased facial expression0PRDX3 CL E G H109359354OMIM:619862
HP:0004673HP:0004673Decreased facial expression0PRNP CL E G H56219449OMIM:123400Creutzfeldt-Jakob disease69
HP:0004673HP:0004673Decreased facial expression0PRNP CL E G H56219449ORPHA:157941Huntington disease-like 169
HP:0004673HP:0004673Decreased facial expression0PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob disease69
HP:0004673HP:0004673Decreased facial expression0PURA CL E G H58139701OMIM:616158Mental retardation, autosomal dominant 3153
HP:0004673HP:0004673Decreased facial expression0PURA CL E G H58139701ORPHA:438216PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation53
HP:0004673HP:0004673Decreased facial expression0PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0004673HP:0004673Decreased facial expression0REV3L CL E G H59809968ORPHA:570Moebius syndrome3
HP:0004673HP:0004673Decreased facial expression0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0004673HP:0004673Decreased facial expression0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegia125
HP:0004673HP:0004673Decreased facial expression0RTL1 CL E G H38801514665ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional
HP:0004673HP:0004673Decreased facial expression0RYR1 CL E G H626110483ORPHA:324581Benign Samaritan congenital myopathy1200
HP:0004673HP:0004673Decreased facial expression0RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegia1200
HP:0004673HP:0004673Decreased facial expression0RYR1 CL E G H626110483ORPHA:424107Congenital myopathy with myasthenic-like onset1200
HP:0004673HP:0004673Decreased facial expression0RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0004673HP:0004673Decreased facial expression0RYR1 CL E G H626110483OMIM:255320Minicore myopathy with external ophthalmoplegia1200
HP:0004673HP:0004673Decreased facial expression0SCYL2 CL E G H5568119286ORPHA:1143Neurogenic arthrogryposis multiplex congenita
HP:0004673HP:0004673Decreased facial expression0SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathy144
HP:0004673HP:0004673Decreased facial expression0SGCB CL E G H644310806ORPHA:119Beta-sarcoglycan-related limb-girdle muscular dystrophy R4113
HP:0004673HP:0004673Decreased facial expression0SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndrome57
HP:0004673HP:0004673Decreased facial expression0SLC18A2 CL E G H657110935ORPHA:352649Brain dopamine-serotonin vesicular transport disease2
HP:0004673HP:0004673Decreased facial expression0SLC18A2 CL E G H657110935OMIM:618049Parkinsonism-Dystonia, infantile, 22
HP:0004673HP:0004673Decreased facial expression0SLC20A2 CL E G H657510947OMIM:213600Basal ganglia calcification, idiopathic, 170
HP:0004673HP:0004673Decreased facial expression0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegia68
HP:0004673HP:0004673Decreased facial expression0SLC30A10 CL E G H5553225355ORPHA:309854Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome42
HP:0004673HP:0004673Decreased facial expression0SLC39A14 CL E G H2351620858ORPHA:521406Dystonia-parkinsonism-hypermanganesemia syndrome5
HP:0004673HP:0004673Decreased facial expression0SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 25
HP:0004673HP:0004673Decreased facial expression0SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 151
HP:0004673HP:0004673Decreased facial expression0SLC6A3 CL E G H653111049ORPHA:238455Infantile dystonia-parkinsonism13
HP:0004673HP:0004673Decreased facial expression0SLC6A3 CL E G H653111049OMIM:613135Parkinsonism-Dystonia, infantile, 113
HP:0004673HP:0004673Decreased facial expression0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked122
HP:0004673HP:0004673Decreased facial expression0SLC6A8 CL E G H653511055ORPHA:52503X-linked creatine transporter deficiency122
HP:0004673HP:0004673Decreased facial expression0SLC6A9 CL E G H653611056OMIM:617301Glycine encephalopathy with normal serum glycine4
HP:0004673HP:0004673Decreased facial expression0SMCHD1 CL E G H2334729090ORPHA:269Facioscapulohumeral dystrophy174
HP:0004673HP:0004673Decreased facial expression0SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson disease65
HP:0004673HP:0004673Decreased facial expression0SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndrome65
HP:0004673HP:0004673Decreased facial expression0SNCAIP CL E G H962711139OMIM:168600Parkinson disease, late-onset35
HP:0004673HP:0004673Decreased facial expression0SPR CL E G H669711257ORPHA:70594Dopa-responsive dystonia due to sepiapterin reductase deficiency28
HP:0004673HP:0004673Decreased facial expression0SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0004673HP:0004673Decreased facial expression0STAC3 CL E G H24632928423OMIM:255995Myopathy, congenital, bailey-bloch14
HP:0004673HP:0004673Decreased facial expression0STAC3 CL E G H24632928423ORPHA:168572Native American myopathy14
HP:0004673HP:0004673Decreased facial expression0SYNJ1 CL E G H886711503ORPHA:391411Atypical juvenile parkinsonism9
HP:0004673HP:0004673Decreased facial expression0TAFAZZIN CL E G H690111577OMIM:302060Barth syndrome
HP:0004673HP:0004673Decreased facial expression0TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration12
HP:0004673HP:0004673Decreased facial expression0TBP CL E G H690811588OMIM:168600Parkinson disease, late-onset7
HP:0004673HP:0004673Decreased facial expression0TECPR2 CL E G H989519957ORPHA:320385Hereditary sensory and autonomic neuropathy due to TECPR2 mutation39
HP:0004673HP:0004673Decreased facial expression0TECPR2 CL E G H989519957OMIM:615031Spastic paraplegia 49, autosomal recessive39
HP:0004673HP:0004673Decreased facial expression0TH CL E G H705411782OMIM:605407Segawa syndrome, autosomal recessive80
HP:0004673HP:0004673Decreased facial expression0TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegia103
HP:0004673HP:0004673Decreased facial expression0TNPO2 CL E G H3000019998OMIM:619556INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0004673HP:0004673Decreased facial expression0TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathy54
HP:0004673HP:0004673Decreased facial expression0TPM2 CL E G H716912011OMIM:609285Nemaline myopathy 454
HP:0004673HP:0004673Decreased facial expression0TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathy108
HP:0004673HP:0004673Decreased facial expression0TPM3 CL E G H717012012ORPHA:171433Intermediate nemaline myopathy108
HP:0004673HP:0004673Decreased facial expression0TRIM32 CL E G H2295416380ORPHA:1878TRIM32-related limb-girdle muscular dystrophy R8108
HP:0004673HP:0004673Decreased facial expression0TRNT CL E G H45767499OMIM:168600Parkinson disease, late-onset
HP:0004673HP:0004673Decreased facial expression0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegia113
HP:0004673HP:0004673Decreased facial expression0TXNL4A CL E G H1090730551OMIM:608572Burn-Mckeown syndrome19
HP:0004673HP:0004673Decreased facial expression0UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophy35
HP:0004673HP:0004673Decreased facial expression0UBA1 CL E G H731712469OMIM:301830Spinal muscular atrophy, X-linked 235
HP:0004673HP:0004673Decreased facial expression0UBA5 CL E G H7987623230OMIM:617132Epileptic encephalopathy, early infantile, 4413
HP:0004673HP:0004673Decreased facial expression0UBE3A CL E G H733712496ORPHA:23844615q11q13 microduplication syndrome278
HP:0004673HP:0004673Decreased facial expression0VAMP1 CL E G H684312642OMIM:618323Myasthenic syndrome, congenital, 25, presynaptic2
HP:0004673HP:0004673Decreased facial expression0VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson disease37
HP:0004673HP:0004673Decreased facial expression0VPS41 CL E G H2707212713OMIM:619389SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0004673HP:0002058Myopathic facies1ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent96
HP:0004673HP:0002058Myopathic facies1ACTA1 CL E G H58129ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent96
HP:0004673HP:0000298Mask-like facies1ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 3.96
HP:0004673HP:0002058Myopathic facies1ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 3.96
HP:0004673HP:0000298Mask-like facies1ADH1C CL E G H126251OMIM:168600Parkinson disease, late-onset.4
HP:0004673HP:0000338Hypomimic face1ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040282 - Frequent100
HP:0004673HP:0000298Mask-like facies1ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0004673HP:0000338Hypomimic face1ATP1A3 CL E G H478801OMIM:128235Dystonia 12.150
HP:0004673HP:0000338Hypomimic face1ATP1A3 CL E G H478801ORPHA:71517Rapid-onset dystonia-parkinsonismHP:0040282 - Frequent150
HP:0004673HP:0000338Hypomimic face1ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0004673HP:0000338Hypomimic face1ATP6AP2 CL E G H1015918305OMIM:300911Parkinsonism with spasticity, X-linked36
HP:0004673HP:0000338Hypomimic face1ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera typeHP:0040283 - Occasional36
HP:0004673HP:0000298Mask-like facies1ATP6AP2 CL E G H1015918305ORPHA:363654X-linked parkinsonism-spasticity syndromeHP:0040283 - Occasional36
HP:0004673HP:0000298Mask-like facies1ATP6V1A CL E G H523851OMIM:617403Cutis laxa, autosomal recessive, type IID.3
HP:0004673HP:0000298Mask-like facies1ATP7A CL E G H538869ORPHA:565Menkes diseaseHP:0040282 - Frequent192
HP:0004673HP:0000298Mask-like facies1ATXN2 CL E G H631110555OMIM:168600Parkinson disease, late-onset.11
HP:0004673HP:0000298Mask-like facies1ATXN8OS CL E G H631510561OMIM:168600Parkinson disease, late-onset.1
HP:0004673HP:0002058Myopathic facies1BCL11B CL E G H6491913222OMIM:617237Immunodeficiency 49.3
HP:0004673HP:0002058Myopathic facies1BCL11B CL E G H6491913222OMIM:618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES.3
HP:0004673HP:0000338Hypomimic face1CC2D1A CL E G H5486230237OMIM:608443Mental retardation, autosomal recessive 3.57
HP:0004673HP:0002058Myopathic facies1CCDC174 CL E G H5124428033OMIM:616816Hypotonia, infantile, with psychomotor retardation.1
HP:0004673HP:0002058Myopathic facies1CERT1 CL E G H100872205OMIM:616351Mental retardation, autosomal dominant 34.
HP:0004673HP:0000338Hypomimic face1CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 561
HP:0004673HP:0002058Myopathic facies1COL25A1 CL E G H8457018603ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional3
HP:0004673HP:0000298Mask-like facies1DCTN1 CL E G H16392711OMIM:168605Perry syndrome.86
HP:0004673HP:0000338Hypomimic face1DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive29
HP:0004673HP:0002058Myopathic facies1DMXL2 CL E G H233122938OMIM:618663DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE813
HP:0004673HP:0000338Hypomimic face1DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional2
HP:0004673HP:0000338Hypomimic face1DNAJC6 CL E G H982915469ORPHA:391411Atypical juvenile parkinsonismHP:0040281 - Very frequent6
HP:0004673HP:0000338Hypomimic face1DNAJC6 CL E G H982915469OMIM:615528Parkinson disease 19a, juvenile-onset6
HP:0004673HP:0000298Mask-like facies1DNMT3B CL E G H17892979ORPHA:269Facioscapulohumeral dystrophyHP:0040281 - Very frequent79
HP:0004673HP:0002058Myopathic facies1DPM2 CL E G H88183006OMIM:615042Congenital disorder of glycosylation, type Iu.26
HP:0004673HP:0002058Myopathic facies1DPM2 CL E G H88183006ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsyHP:0040282 - Frequent26
HP:0004673HP:0000298Mask-like facies1DUX4 CL E G H10028868750800ORPHA:269Facioscapulohumeral dystrophyHP:0040281 - Very frequent
HP:0004673HP:0002058Myopathic facies1EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0004673HP:0000298Mask-like facies1EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0004673HP:0000338Hypomimic face1EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional2
HP:0004673HP:0002058Myopathic facies1ERGIC1 CL E G H5722229205ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional
HP:0004673HP:0000298Mask-like facies1FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 35HP:0040283 - Occasional76
HP:0004673HP:0000338Hypomimic face1FBXO7 CL E G H2579313586OMIM:260300Parkinson disease 15, autosomal recessive early-onset.36
HP:0004673HP:0000338Hypomimic face1FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent36
HP:0004673HP:0000298Mask-like facies1FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1157
HP:0004673HP:0000298Mask-like facies1FKTN CL E G H22183622ORPHA:272Congenital muscular dystrophy, Fukuyama typeHP:0040281 - Very frequent184
HP:0004673HP:0000298Mask-like facies1FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1184
HP:0004673HP:0000298Mask-like facies1FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome30
HP:0004673HP:0000298Mask-like facies1FRG1 CL E G H24833954ORPHA:269Facioscapulohumeral dystrophyHP:0040281 - Very frequent1
HP:0004673HP:0000338Hypomimic face1FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 333
HP:0004673HP:0000338Hypomimic face1FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040282 - Frequent33
HP:0004673HP:0000338Hypomimic face1GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional
HP:0004673HP:0000298Mask-like facies1GBA1 CL E G H26294177OMIM:168600Parkinson disease, late-onset.
HP:0004673HP:0002058Myopathic facies1GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 39HP:0040283 - Occasional43
HP:0004673HP:0002058Myopathic facies1GFM2 CL E G H8434029682OMIM:618397Combined oxidative phosphorylation deficiency 39.43
HP:0004673HP:0000338Hypomimic face1GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional8
HP:0004673HP:0002058Myopathic facies1GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0004673HP:0002058Myopathic facies1GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease.45
HP:0004673HP:0000298Mask-like facies1GLUD2 CL E G H27474336OMIM:168600Parkinson disease, late-onset.1
HP:0004673HP:0002058Myopathic facies1GMPPB CL E G H2992522932OMIM:615351MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14.34
HP:0004673HP:0002058Myopathic facies1HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent2
HP:0004673HP:0005327Loss of facial expression1HLA-DQB1 CL E G H31194944OMIM:123400Creutzfeldt-Jakob disease.
HP:0004673HP:0002058Myopathic facies1HOXB1 CL E G H32115111OMIM:614744Facial paresis, hereditary congenital, 3.2
HP:0004673HP:0000298Mask-like facies1HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040282 - Frequent345
HP:0004673HP:0000298Mask-like facies1HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1345
HP:0004673HP:0002058Myopathic facies1ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent127
HP:0004673HP:0000298Mask-like facies1ITPR1 CL E G H37086180ORPHA:1065Aniridia-cerebellar ataxia-intellectual disability syndromeHP:0040281 - Very frequent177
HP:0004673HP:0000338Hypomimic face1JAM2 CL E G H5849414686OMIM:618824BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0004673HP:0002058Myopathic facies1KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040282 - Frequent13
HP:0004673HP:0002058Myopathic facies1KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome.13
HP:0004673HP:0000298Mask-like facies1KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndromeHP:0040282 - Frequent3
HP:0004673HP:0000338Hypomimic face1KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel typeHP:0040282 - Frequent4
HP:0004673HP:0000298Mask-like facies1KDM6A CL E G H740312637ORPHA:2322Kabuki syndromeHP:0040283 - Occasional53
HP:0004673HP:0002058Myopathic facies1KLHL41 CL E G H1032416905ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent13
HP:0004673HP:0000298Mask-like facies1KMT2D CL E G H80857133ORPHA:2322Kabuki syndromeHP:0040283 - Occasional660
HP:0004673HP:0002058Myopathic facies1KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0004673HP:0002058Myopathic facies1LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophyHP:0040283 - Occasional411
HP:0004673HP:0000298Mask-like facies1LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1136
HP:0004673HP:0002058Myopathic facies1LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1.
HP:0004673HP:0000338Hypomimic face1LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional221
HP:0004673HP:0002058Myopathic facies1MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent2
HP:0004673HP:0000298Mask-like facies1MAPT CL E G H41376893OMIM:168600Parkinson disease, late-onset.140
HP:0004673HP:0005329Fixed facial expression1MAPT CL E G H41376893ORPHA:240094Progressive supranuclear palsy-pure akinesia with gait freezing syndromeHP:0040282 - Frequent140
HP:0004673HP:0000298Mask-like facies1MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorderHP:0040282 - Frequent532
HP:0004673HP:0002058Myopathic facies1MSTO1 CL E G H5515429678OMIM:617675Myopathy, mitochondrial, and ataxia.
HP:0004673HP:0002058Myopathic facies1MYH2 CL E G H46207572OMIM:605637Myopathy, proximal, and ophthalmoplegia.105
HP:0004673HP:0000298Mask-like facies1MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A.166
HP:0004673HP:0002058Myopathic facies1MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophyHP:0040283 - Occasional1269
HP:0004673HP:0002058Myopathic facies1MYH7 CL E G H46257577OMIM:255160Myopathy, myosin storage, autosomal recessiveHP:0040283 - Occasional1269
HP:0004673HP:0002058Myopathic facies1MYL1 CL E G H46327582OMIM:618414Myopathy, congenital, with fast-twitch (type ii) fiber atrophy.
HP:0004673HP:0002058Myopathic facies1MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent131
HP:0004673HP:0000338Hypomimic face1MYMX CL E G H10192972652391OMIM:619941
HP:0004673HP:0002058Myopathic facies1NEB CL E G H47037720ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent745
HP:0004673HP:0002058Myopathic facies1NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0004673HP:0002058Myopathic facies1NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0004673HP:0000298Mask-like facies1NR4A2 CL E G H49297981OMIM:168600Parkinson disease, late-onset.27
HP:0004673HP:0000338Hypomimic face1OGDHL CL E G H5575325590OMIM:619701YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN3
HP:0004673HP:0000298Mask-like facies1PABPN1 CL E G H81068565OMIM:164300Oculopharyngeal muscular dystrophy.10
HP:0004673HP:0000298Mask-like facies1PABPN1 CL E G H81068565ORPHA:270Oculopharyngeal muscular dystrophyHP:0040283 - Occasional10
HP:0004673HP:0000298Mask-like facies1PANK2 CL E G H8002515894ORPHA:216866Classic pantothenate kinase-associated neurodegenerationHP:0040283 - Occasional55
HP:0004673HP:0000298Mask-like facies1PAX6 CL E G H50808620ORPHA:1065Aniridia-cerebellar ataxia-intellectual disability syndromeHP:0040281 - Very frequent194
HP:0004673HP:0000298Mask-like facies1PDGFB CL E G H51558800OMIM:213600Basal ganglia calcification, idiopathic, 1.9
HP:0004673HP:0000298Mask-like facies1PDGFRB CL E G H51598804OMIM:213600Basal ganglia calcification, idiopathic, 1.28
HP:0004673HP:0002058Myopathic facies1PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch77
HP:0004673HP:0005329Fixed facial expression1PIEZO2 CL E G H6389526270OMIM:248700Marden-Walker syndrome.77
HP:0004673HP:0000298Mask-like facies1PIEZO2 CL E G H6389526270ORPHA:2461Marden-Walker syndromeHP:0040281 - Very frequent77
HP:0004673HP:0002058Myopathic facies1PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0004673HP:0000338Hypomimic face1PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonismHP:0040282 - Frequent133
HP:0004673HP:0000338Hypomimic face1PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0004673HP:0000338Hypomimic face1PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies.3
HP:0004673HP:0000298Mask-like facies1PLXND1 CL E G H231299107ORPHA:570Moebius syndromeHP:0040281 - Very frequent
HP:0004673HP:0000338Hypomimic face1PODXL CL E G H54209171ORPHA:391411Atypical juvenile parkinsonismHP:0040281 - Very frequent6
HP:0004673HP:0000338Hypomimic face1POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent464
HP:0004673HP:0000298Mask-like facies1POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040282 - Frequent464
HP:0004673HP:0000338Hypomimic face1POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent45
HP:0004673HP:0000298Mask-like facies1POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1213
HP:0004673HP:0000298Mask-like facies1POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1221
HP:0004673HP:0000338Hypomimic face1PRDX3 CL E G H109359354OMIM:619862
HP:0004673HP:0005327Loss of facial expression1PRNP CL E G H56219449OMIM:123400Creutzfeldt-Jakob disease.69
HP:0004673HP:0000298Mask-like facies1PRNP CL E G H56219449ORPHA:157941Huntington disease-like 1HP:0040283 - Occasional69
HP:0004673HP:0005327Loss of facial expression1PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob diseaseHP:0040282 - Frequent69
HP:0004673HP:0002058Myopathic facies1PURA CL E G H58139701OMIM:616158Mental retardation, autosomal dominant 31.53
HP:0004673HP:0002058Myopathic facies1PURA CL E G H58139701ORPHA:438216PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutationHP:0040282 - Frequent53
HP:0004673HP:0002058Myopathic facies1PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0004673HP:0000298Mask-like facies1REV3L CL E G H59809968ORPHA:570Moebius syndromeHP:0040281 - Very frequent3
HP:0004673HP:0000298Mask-like facies1RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0004673HP:0000338Hypomimic face1RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent125
HP:0004673HP:0002058Myopathic facies1RYR1 CL E G H626110483ORPHA:324581Benign Samaritan congenital myopathyHP:0040283 - Occasional1200
HP:0004673HP:0002058Myopathic facies1RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegiaHP:0040282 - Frequent1200
HP:0004673HP:0002058Myopathic facies1RYR1 CL E G H626110483ORPHA:424107Congenital myopathy with myasthenic-like onsetHP:0040282 - Frequent1200
HP:0004673HP:0002058Myopathic facies1RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0004673HP:0002058Myopathic facies1RYR1 CL E G H626110483OMIM:255320Minicore myopathy with external ophthalmoplegia.1200
HP:0004673HP:0002058Myopathic facies1SCYL2 CL E G H5568119286ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional
HP:0004673HP:0002058Myopathic facies1SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent144
HP:0004673HP:0002058Myopathic facies1SGCB CL E G H644310806ORPHA:119Beta-sarcoglycan-related limb-girdle muscular dystrophy R4HP:0040282 - Frequent113
HP:0004673HP:0002058Myopathic facies1SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040282 - Frequent57
HP:0004673HP:0000338Hypomimic face1SLC18A2 CL E G H657110935ORPHA:352649Brain dopamine-serotonin vesicular transport diseaseHP:0040281 - Very frequent2
HP:0004673HP:0000338Hypomimic face1SLC18A2 CL E G H657110935OMIM:618049Parkinsonism-Dystonia, infantile, 22
HP:0004673HP:0000298Mask-like facies1SLC20A2 CL E G H657510947OMIM:213600Basal ganglia calcification, idiopathic, 1.70
HP:0004673HP:0000338Hypomimic face1SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent68
HP:0004673HP:0000338Hypomimic face1SLC30A10 CL E G H5553225355ORPHA:309854Cirrhosis-dystonia-polycythemia-hypermanganesemia syndromeHP:0040282 - Frequent42
HP:0004673HP:0000338Hypomimic face1SLC39A14 CL E G H2351620858ORPHA:521406Dystonia-parkinsonism-hypermanganesemia syndromeHP:0040282 - Frequent5
HP:0004673HP:0000338Hypomimic face1SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 25
HP:0004673HP:0002058Myopathic facies1SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 1.51
HP:0004673HP:0000338Hypomimic face1SLC6A3 CL E G H653111049ORPHA:238455Infantile dystonia-parkinsonismHP:0040282 - Frequent13
HP:0004673HP:0000338Hypomimic face1SLC6A3 CL E G H653111049OMIM:613135Parkinsonism-Dystonia, infantile, 113
HP:0004673HP:0002058Myopathic facies1SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked.122
HP:0004673HP:0000298Mask-like facies1SLC6A8 CL E G H653511055ORPHA:52503X-linked creatine transporter deficiencyHP:0040283 - Occasional122
HP:0004673HP:0002058Myopathic facies1SLC6A9 CL E G H653611056OMIM:617301Glycine encephalopathy with normal serum glycine.4
HP:0004673HP:0000298Mask-like facies1SMCHD1 CL E G H2334729090ORPHA:269Facioscapulohumeral dystrophyHP:0040281 - Very frequent174
HP:0004673HP:0000338Hypomimic face1SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional65
HP:0004673HP:0000338Hypomimic face1SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent65
HP:0004673HP:0000298Mask-like facies1SNCAIP CL E G H962711139OMIM:168600Parkinson disease, late-onset.35
HP:0004673HP:0000338Hypomimic face1SPR CL E G H669711257ORPHA:70594Dopa-responsive dystonia due to sepiapterin reductase deficiencyHP:0040282 - Frequent28
HP:0004673HP:0002058Myopathic facies1SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0004673HP:0002058Myopathic facies1STAC3 CL E G H24632928423OMIM:255995Myopathy, congenital, bailey-bloch.14
HP:0004673HP:0002058Myopathic facies1STAC3 CL E G H24632928423ORPHA:168572Native American myopathyHP:0040281 - Very frequent14
HP:0004673HP:0000338Hypomimic face1SYNJ1 CL E G H886711503ORPHA:391411Atypical juvenile parkinsonismHP:0040281 - Very frequent9
HP:0004673HP:0002058Myopathic facies1TAFAZZIN CL E G H690111577OMIM:302060Barth syndrome.
HP:0004673HP:0002058Myopathic facies1TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration12
HP:0004673HP:0000298Mask-like facies1TBP CL E G H690811588OMIM:168600Parkinson disease, late-onset.7
HP:0004673HP:0000338Hypomimic face1TECPR2 CL E G H989519957ORPHA:320385Hereditary sensory and autonomic neuropathy due to TECPR2 mutationHP:0040282 - Frequent39
HP:0004673HP:0000338Hypomimic face1TECPR2 CL E G H989519957OMIM:615031Spastic paraplegia 49, autosomal recessive.39
HP:0004673HP:0000298Mask-like facies1TH CL E G H705411782OMIM:605407Segawa syndrome, autosomal recessive.80
HP:0004673HP:0000298Mask-like facies1TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040282 - Frequent103
HP:0004673HP:0002058Myopathic facies1TNPO2 CL E G H3000019998OMIM:619556INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0004673HP:0002058Myopathic facies1TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent54
HP:0004673HP:0002058Myopathic facies1TPM2 CL E G H716912011OMIM:609285Nemaline myopathy 4.54
HP:0004673HP:0002058Myopathic facies1TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent108
HP:0004673HP:0002058Myopathic facies1TPM3 CL E G H717012012ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent108
HP:0004673HP:0000298Mask-like facies1TRIM32 CL E G H2295416380ORPHA:1878TRIM32-related limb-girdle muscular dystrophy R8HP:0040281 - Very frequent108
HP:0004673HP:0000298Mask-like facies1TRNT CL E G H45767499OMIM:168600Parkinson disease, late-onset.
HP:0004673HP:0000338Hypomimic face1TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent113
HP:0004673HP:0000338Hypomimic face1TXNL4A CL E G H1090730551OMIM:608572Burn-Mckeown syndrome.19
HP:0004673HP:0002058Myopathic facies1UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophyHP:0040282 - Frequent35
HP:0004673HP:0002058Myopathic facies1UBA1 CL E G H731712469OMIM:301830Spinal muscular atrophy, X-linked 2.35
HP:0004673HP:0000298Mask-like facies1UBA5 CL E G H7987623230OMIM:617132Epileptic encephalopathy, early infantile, 44.13
HP:0004673HP:0000298Mask-like facies1UBE3A CL E G H733712496ORPHA:23844615q11q13 microduplication syndromeHP:0040283 - Occasional278
HP:0004673HP:0002058Myopathic facies1VAMP1 CL E G H684312642OMIM:618323Myasthenic syndrome, congenital, 25, presynaptic.2
HP:0004673HP:0000338Hypomimic face1VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional37
HP:0004673HP:0002058Myopathic facies1VPS41 CL E G H2707212713OMIM:619389SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29


Genes (140) :ACTA1 ADH1C ASXL3 ATP13A2 ATP1A3 ATP6AP2 ATP6V1A ATP7A ATXN2 ATXN8OS BCL11B CC2D1A CCDC174 CERT1 CLTC COL25A1 DCTN1 DDHD2 DLK1 DMXL2 DNA2 DNAJC13 DNAJC6 DNMT3B DPM2 DUX4 EBF3 EIF2AK2 EIF4G1 ERGIC1 FA2H FBXO7 FKRP FKTN FMR1 FRG1 FTL GBA1 GFM2 GIGYF2 GIPC1 GLE1 GLUD2 GMPPB HACD1 HLA-DQB1 HOXB1 HSPG2 ITGA7 ITPR1 JAM2 KCNH1 KCNJ6 KCNK9 KDM6A KLHL41 KMT2D KNSTRN LAMA2 LARGE1 LRP12 LRRK2 MAP3K20 MAPT MEG3 MRE11 MSTO1 MYH2 MYH3 MYH7 MYL1 MYL2 MYMX NEB NOTCH2NLC NR4A2 OGDHL PABPN1 PANK2 PAX6 PDGFB PDGFRB PIEZO2 PIK3CD PLA2G6 PLAA PLXND1 PODXL POLG POLG2 POMT1 POMT2 PRDX3 PRNP PURA PYROXD1 REV3L RIPK4 RRM2B RTL1 RYR1 SCYL2 SELENON SGCB SLC16A2 SLC18A2 SLC20A2 SLC25A4 SLC30A10 SLC39A14 SLC52A3 SLC6A3 SLC6A8 SLC6A9 SMCHD1 SNCA SNCAIP SPR SPTBN4 STAC3 SYNJ1 TAFAZZIN TANGO2 TBP TECPR2 TH TK2 TNPO2 TPM2 TPM3 TRIM32 TRNT TWNK TXNL4A UBA1 UBA5 UBE3A VAMP1 VPS35 VPS41

Diseases (131) :ORPHA:2020 ORPHA:171433 OMIM:161800 OMIM:168600 ORPHA:352577 OMIM:606693 ORPHA:306674 OMIM:128235 ORPHA:71517 OMIM:300423 OMIM:300911 ORPHA:93952 ORPHA:363654 OMIM:617403 ORPHA:565 OMIM:617237 OMIM:618092 OMIM:608443 OMIM:616816 OMIM:616351 OMIM:617854 ORPHA:1143 OMIM:168605 OMIM:615033 ORPHA:254531 OMIM:618663 ORPHA:352470 ORPHA:411602 ORPHA:391411 OMIM:615528 ORPHA:269 OMIM:615042 ORPHA:329178 OMIM:617330 OMIM:618877 ORPHA:171629 OMIM:260300 ORPHA:171695 OMIM:236670 ORPHA:272 OMIM:300623 OMIM:606159 ORPHA:157846 ORPHA:565624 OMIM:618397 ORPHA:98897 OMIM:611890 OMIM:615351 OMIM:123400 OMIM:614744 ORPHA:800 OMIM:255800 ORPHA:1065 OMIM:618824 ORPHA:420561 OMIM:611816 ORPHA:435628 ORPHA:166108 ORPHA:2322 ORPHA:221139 ORPHA:258 OMIM:164310 ORPHA:240094 ORPHA:251347 OMIM:617675 OMIM:605637 OMIM:193700 ORPHA:437572 OMIM:255160 OMIM:618414 OMIM:619941 OMIM:256030 OMIM:619701 OMIM:164300 ORPHA:270 ORPHA:216866 OMIM:213600 OMIM:108145 OMIM:617146 OMIM:248700 ORPHA:2461 ORPHA:199351 OMIM:612953 OMIM:617527 ORPHA:570 ORPHA:254892 ORPHA:254886 OMIM:619862 ORPHA:157941 ORPHA:282166 OMIM:616158 ORPHA:438216 OMIM:617258 OMIM:263650 ORPHA:324581 ORPHA:98905 ORPHA:424107 OMIM:619542 OMIM:255320 ORPHA:119 ORPHA:59 ORPHA:352649 OMIM:618049 ORPHA:309854 ORPHA:521406 OMIM:617013 OMIM:211530 ORPHA:238455 OMIM:613135 OMIM:300352 ORPHA:52503 OMIM:617301 ORPHA:70594 OMIM:617519 OMIM:255995 ORPHA:168572 OMIM:302060 OMIM:616878 ORPHA:320385 OMIM:615031 OMIM:605407 OMIM:619556 OMIM:609285 ORPHA:1878 OMIM:608572 ORPHA:1145 OMIM:301830 OMIM:617132 ORPHA:238446 OMIM:618323 OMIM:619389
 

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