Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the face (HP:0000271)help
Parent Node:
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Abnormal facial shape (HP:0001999)help
..Starting node
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Facial asymmetry (HP:0000324)help
Term ID: 324
Name: Facial asymmetry
Synonym: Asymmetric facies; Asymmetry of face; Asymmetry of right and left side of face; Crooked face; Facial asymmetry; Unbalanced face; Unequal sides of face; Uneven face; Uneven sides of face; Unsymmetrical face
Definition: An abnormal difference between the left and right sides of the face.
Comments:
Reference: HP:0000324
Genes and Diseases:
 
       Child Nodes:
........expandCraniofacial asymmetry (HP:0004484) help
........expandHemifacial hypertrophy (HP:0005323) help
........expandHemifacial atrophy (HP:0011331) help
........expandHemifacial hypoplasia (HP:0011332) help
........expandAsymmetric crying face (HP:0011333) help

 Sister Nodes: 
..expandBird-like facies (HP:0000320) help
..expandCoarse facial features (HP:0000280) help
..expandCraniofacial disproportion (HP:0005461) help
..expandDoll-like facies (HP:0000295) help
..expandElfin facies (HP:0004428) help
..expandFacial shape deformation (HP:0011334) help
..expandFlat face (HP:0012368) help
..expandLarge face (HP:0100729) help
..expandMoon facies (HP:0500011) help
..expandobsolete Abnormality of the shape of the midface (HP:0430026) help
..expandOval face (HP:0000300) help
..expandRound face (HP:0000311) help
..expandSmall face (HP:0000274) help
..expandSquare face (HP:0000321) help
..expandTriangular face (HP:0000325) 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:0000324HP:0000324Facial asymmetry0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040283 - Occasional9
HP:0000324HP:0000324Facial asymmetry0AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0000324HP:0000324Facial asymmetry0ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmiaHP:0040283 - Occasional65
HP:0000324HP:0000324Facial asymmetry0ASPH CL E G H444757OMIM:601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs4
HP:0000324HP:0000324Facial asymmetry0ATR CL E G H545882OMIM:210600Seckel syndrome 1.168
HP:0000324HP:0000324Facial asymmetry0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional5
HP:0000324HP:0000324Facial asymmetry0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0000324HP:0000324Facial asymmetry0BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0000324HP:0000324Facial asymmetry0BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0000324HP:0000324Facial asymmetry0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0000324HP:0000324Facial asymmetry0C12ORF57 CL E G H11324629521ORPHA:1777Temtamy syndromeHP:0040283 - Occasional13
HP:0000324HP:0000324Facial asymmetry0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndromeHP:0040284 - Very rare2
HP:0000324HP:0000324Facial asymmetry0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0000324HP:0000324Facial asymmetry0CEP85L CL E G H38711921638ORPHA:572013Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome1
HP:0000324HP:0000324Facial asymmetry0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0000324HP:0000324Facial asymmetry0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040282 - Frequent515
HP:0000324HP:0000324Facial asymmetry0CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0000324HP:0000324Facial asymmetry0CHRNG CL E G H11461967ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040282 - Frequent68
HP:0000324HP:0000324Facial asymmetry0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.HP:0003581 - Adult onset27
HP:0000324HP:0000324Facial asymmetry0CLTCL1 CL E G H82182093ORPHA:453510Congenital insensitivity to pain with severe intellectual disabilityHP:0040283 - Occasional6
HP:0000324HP:0000324Facial asymmetry0COL1A1 CL E G H12772197ORPHA:1310Caffey diseaseHP:0040283 - Occasional373
HP:0000324HP:0000324Facial asymmetry0COL2A1 CL E G H12802200ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040283 - Occasional284
HP:0000324HP:0000324Facial asymmetry0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0000324HP:0000324Facial asymmetry0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0000324HP:0000324Facial asymmetry0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000324HP:0000324Facial asymmetry0CTNND1 CL E G H15002515OMIM:617681Blepharocheilodontic syndrome 2HP:0040284 - Very rare
HP:0000324HP:0000324Facial asymmetry0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional2
HP:0000324HP:0000324Facial asymmetry0DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0000324HP:0000324Facial asymmetry0DHX37 CL E G H5764717210OMIM:618731NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC2
HP:0000324HP:0000324Facial asymmetry0EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0000324HP:0000324Facial asymmetry0EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndromeHP:0040282 - Frequent6
HP:0000324HP:0000324Facial asymmetry0EDNRA CL E G H19093179OMIM:616367Mandibulofacial dysostosis with alopecia.3
HP:0000324HP:0000324Facial asymmetry0EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasiaHP:0040282 - Frequent27
HP:0000324HP:0000324Facial asymmetry0EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome.27
HP:0000324HP:0000324Facial asymmetry0ELMO2 CL E G H6391617233OMIM:606893Vascular malformation, primary intraosseous.3
HP:0000324HP:0000324Facial asymmetry0ELOVL4 CL E G H678514415ORPHA:1955Spinocerebellar ataxia type 34HP:0040283 - Occasional62
HP:0000324HP:0000324Facial asymmetry0ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0000324HP:0000324Facial asymmetry0EYA1 CL E G H21383519ORPHA:52429Branchiootic syndromeHP:0040283 - Occasional135
HP:0000324HP:0000324Facial asymmetry0EYA1 CL E G H21383519ORPHA:2792Otofaciocervical syndromeHP:0040283 - Occasional135
HP:0000324HP:0000324Facial asymmetry0FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0000324HP:0000324Facial asymmetry0FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0000324HP:0000324Facial asymmetry0FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0000324HP:0000324Facial asymmetry0FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0000324HP:0000324Facial asymmetry0FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0000324HP:0000324Facial asymmetry0FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0000324HP:0000324Facial asymmetry0FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0000324HP:0000324Facial asymmetry0FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0000324HP:0000324Facial asymmetry0FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0000324HP:0000324Facial asymmetry0FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0000324HP:0000324Facial asymmetry0FGF9 CL E G H22543687ORPHA:3237Multiple synostoses syndromeHP:0040283 - Occasional75
HP:0000324HP:0000324Facial asymmetry0FGFR2 CL E G H22633689ORPHA:87Apert syndromeHP:0040282 - Frequent175
HP:0000324HP:0000324Facial asymmetry0FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome.175
HP:0000324HP:0000324Facial asymmetry0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndromeHP:0040281 - Very frequent175
HP:0000324HP:0000324Facial asymmetry0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndromeHP:0040281 - Very frequent145
HP:0000324HP:0000324Facial asymmetry0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0000324HP:0000324Facial asymmetry0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040282 - Frequent8
HP:0000324HP:0000324Facial asymmetry0FLNA CL E G H23163754ORPHA:2484Melnick-Needles syndromeHP:0040282 - Frequent493
HP:0000324HP:0000324Facial asymmetry0FN1 CL E G H23353778ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040283 - Occasional9
HP:0000324HP:0000324Facial asymmetry0FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome353
HP:0000324HP:0000324Facial asymmetry0GDF3 CL E G H95734218ORPHA:2345Isolated Klippel-Feil syndromeHP:0040281 - Very frequent7
HP:0000324HP:0000324Facial asymmetry0GDF5 CL E G H82004220ORPHA:3237Multiple synostoses syndromeHP:0040283 - Occasional52
HP:0000324HP:0000324Facial asymmetry0GDF6 CL E G H3922554221ORPHA:2345Isolated Klippel-Feil syndromeHP:0040281 - Very frequent64
HP:0000324HP:0000324Facial asymmetry0GDF6 CL E G H3922554221OMIM:118100Klippel-Feil syndrome 1, autosomal dominant64
HP:0000324HP:0000324Facial asymmetry0GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndromeHP:0040282 - Frequent2
HP:0000324HP:0000324Facial asymmetry0GNAS CL E G H27784392ORPHA:562McCune-Albright syndromeHP:0040283 - Occasional101
HP:0000324HP:0000324Facial asymmetry0GNAS CL E G H27784392OMIM:174800McCune-Albright syndrome, somatic, mosaic.101
HP:0000324HP:0000324Facial asymmetry0H19 CL E G H2831204713ORPHA:2128Isolated hemihyperplasiaHP:0040282 - Frequent4
HP:0000324HP:0000324Facial asymmetry0H19 CL E G H2831204713ORPHA:231144Silver-Russell syndrome due to 11p15 microduplicationHP:0040283 - Occasional4
HP:0000324HP:0000324Facial asymmetry0HRAS CL E G H32655173ORPHA:2612Linear nevus sebaceus syndromeHP:0040282 - Frequent113
HP:0000324HP:0000324Facial asymmetry0IGF2 CL E G H34815466ORPHA:2128Isolated hemihyperplasiaHP:0040282 - Frequent9
HP:0000324HP:0000324Facial asymmetry0IGF2 CL E G H34815466ORPHA:231144Silver-Russell syndrome due to 11p15 microduplicationHP:0040283 - Occasional9
HP:0000324HP:0000324Facial asymmetry0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000324HP:0000324Facial asymmetry0KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis.193
HP:0000324HP:0000324Facial asymmetry0KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional193
HP:0000324HP:0000324Facial asymmetry0KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional128
HP:0000324HP:0000324Facial asymmetry0KCNQ1OT1 CL E G H109846295ORPHA:2128Isolated hemihyperplasiaHP:0040282 - Frequent1
HP:0000324HP:0000324Facial asymmetry0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000324HP:0000324Facial asymmetry0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040282 - Frequent91
HP:0000324HP:0000324Facial asymmetry0KRAS CL E G H38456407ORPHA:2612Linear nevus sebaceus syndromeHP:0040282 - Frequent196
HP:0000324HP:0000324Facial asymmetry0KRAS CL E G H38456407OMIM:600268Oculoectodermal syndrome.196
HP:0000324HP:0000324Facial asymmetry0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000324HP:0000324Facial asymmetry0LRP4 CL E G H40386696OMIM:614305Sclerosteosis 2.124
HP:0000324HP:0000324Facial asymmetry0MACF1 CL E G H2349913664ORPHA:572013Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome2
HP:0000324HP:0000324Facial asymmetry0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0000324HP:0000324Facial asymmetry0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndrome21
HP:0000324HP:0000324Facial asymmetry0MAF CL E G H40946776OMIM:601088Ayme-Gripp syndrome21
HP:0000324HP:0000324Facial asymmetry0MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0000324HP:0000324Facial asymmetry0MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000324HP:0000324Facial asymmetry0MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0000324HP:0000324Facial asymmetry0MEOX1 CL E G H42227013ORPHA:2345Isolated Klippel-Feil syndromeHP:0040281 - Very frequent5
HP:0000324HP:0000324Facial asymmetry0MYCN CL E G H46137559OMIM:164280Feingold syndrome 1.35
HP:0000324HP:0000324Facial asymmetry0MYH3 CL E G H46217573ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040282 - Frequent166
HP:0000324HP:0000324Facial asymmetry0MYH8 CL E G H46267578OMIM:158300Arthrogryposis, distal, type 7.93
HP:0000324HP:0000324Facial asymmetry0NBAS CL E G H5159415625OMIM:614800Short stature, optic nerve atrophy, and pelger-huet anomaly.25
HP:0000324HP:0000324Facial asymmetry0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040283 - Occasional1952
HP:0000324HP:0000324Facial asymmetry0NFIX CL E G H47847788ORPHA:420179Malan overgrowth syndromeHP:0040283 - Occasional40
HP:0000324HP:0000324Facial asymmetry0NOG CL E G H92417866ORPHA:3237Multiple synostoses syndromeHP:0040283 - Occasional22
HP:0000324HP:0000324Facial asymmetry0NRAS CL E G H48937989ORPHA:2612Linear nevus sebaceus syndromeHP:0040282 - Frequent102
HP:0000324HP:0000324Facial asymmetry0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0000324HP:0000324Facial asymmetry0NTRK2 CL E G H49158032OMIM:613886Obesity, hyperphagia, and developmental delay.8
HP:0000324HP:0000324Facial asymmetry0OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I.201
HP:0000324HP:0000324Facial asymmetry0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040282 - Frequent201
HP:0000324HP:0000324Facial asymmetry0PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040283 - Occasional1349
HP:0000324HP:0000324Facial asymmetry0PAX1 CL E G H50758615ORPHA:2792Otofaciocervical syndromeHP:0040283 - Occasional3
HP:0000324HP:0000324Facial asymmetry0PIEZO2 CL E G H6389526270OMIM:114300Arthrogryposis, distal, type 3.77
HP:0000324HP:0000324Facial asymmetry0PIEZO2 CL E G H6389526270ORPHA:376Gordon syndromeHP:0040283 - Occasional77
HP:0000324HP:0000324Facial asymmetry0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome37
HP:0000324HP:0000324Facial asymmetry0PIK3CA CL E G H52908975OMIM:612918Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi.162
HP:0000324HP:0000324Facial asymmetry0PIK3CA CL E G H52908975ORPHA:60040Megalencephaly-capillary malformation-polymicrogyria syndromeHP:0040281 - Very frequent162
HP:0000324HP:0000324Facial asymmetry0PKD2 CL E G H53119009OMIM:613095Polycystic kidney disease 2HP:0040283 - Occasional106
HP:0000324HP:0000324Facial asymmetry0PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndromeHP:0040282 - Frequent82
HP:0000324HP:0000324Facial asymmetry0POLR1B CL E G H8417220454OMIM:618939TREACHER COLLINS SYNDROME 4; TCS4
HP:0000324HP:0000324Facial asymmetry0PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040282 - Frequent20
HP:0000324HP:0000324Facial asymmetry0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0000324HP:0000324Facial asymmetry0PPP2R1A CL E G H55189302OMIM:616362Mental retardation, autosomal dominant 36.13
HP:0000324HP:0000324Facial asymmetry0PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndromeHP:0040283 - Occasional13
HP:0000324HP:0000324Facial asymmetry0PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromeHP:0040284 - Very rare10
HP:0000324HP:0000324Facial asymmetry0PSMD12 CL E G H57189557OMIM:617516Stankiewicz-Isidor syndrome4
HP:0000324HP:0000324Facial asymmetry0PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0000324HP:0000324Facial asymmetry0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0000324HP:0000324Facial asymmetry0PURA CL E G H58139701ORPHA:438216PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutationHP:0040283 - Occasional53
HP:0000324HP:0000324Facial asymmetry0RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040283 - Occasional9
HP:0000324HP:0000324Facial asymmetry0RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040283 - Occasional391
HP:0000324HP:0000324Facial asymmetry0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040283 - Occasional
HP:0000324HP:0000324Facial asymmetry0RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:0000324HP:0000324Facial asymmetry0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional124
HP:0000324HP:0000324Facial asymmetry0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86
HP:0000324HP:0000324Facial asymmetry0SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome.86
HP:0000324HP:0000324Facial asymmetry0SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndromeHP:0040283 - Occasional34
HP:0000324HP:0000324Facial asymmetry0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040283 - Occasional34
HP:0000324HP:0000324Facial asymmetry0SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variantHP:0040282 - Frequent34
HP:0000324HP:0000324Facial asymmetry0SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040282 - Frequent16
HP:0000324HP:0000324Facial asymmetry0SEPTIN9 CL E G H108017323OMIM:162100Amyotrophy, hereditary neuralgic.
HP:0000324HP:0000324Facial asymmetry0SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 58.1
HP:0000324HP:0000324Facial asymmetry0SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia.2
HP:0000324HP:0000324Facial asymmetry0SIN3A CL E G H2594219353ORPHA:9406515q24 microdeletion syndromeHP:0040283 - Occasional9
HP:0000324HP:0000324Facial asymmetry0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000324HP:0000324Facial asymmetry0SIX1 CL E G H649510887ORPHA:52429Branchiootic syndromeHP:0040283 - Occasional50
HP:0000324HP:0000324Facial asymmetry0SIX5 CL E G H14791210891OMIM:610896Branchiootorenal syndrome 210
HP:0000324HP:0000324Facial asymmetry0SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy.163
HP:0000324HP:0000324Facial asymmetry0SLC37A4 CL E G H25424061OMIM:619525CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W110
HP:0000324HP:0000324Facial asymmetry0SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040283 - Occasional274
HP:0000324HP:0000324Facial asymmetry0SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0000324HP:0000324Facial asymmetry0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0000324HP:0000324Facial asymmetry0SMO CL E G H660811119ORPHA:1553Curry-Jones syndromeHP:0040282 - Frequent22
HP:0000324HP:0000324Facial asymmetry0SMO CL E G H660811119OMIM:601707Curry-Jones syndrome.22
HP:0000324HP:0000324Facial asymmetry0SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type.19
HP:0000324HP:0000324Facial asymmetry0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040282 - Frequent19
HP:0000324HP:0000324Facial asymmetry0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0000324HP:0000324Facial asymmetry0SON CL E G H665111183OMIM:617140Zttk syndrome.12
HP:0000324HP:0000324Facial asymmetry0SOX5 CL E G H666011201OMIM:616803Lamb-Shaffer syndrome.11
HP:0000324HP:0000324Facial asymmetry0SP7 CL E G H12134017321OMIM:613849Osteogenesis imperfecta, type XII.34
HP:0000324HP:0000324Facial asymmetry0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0000324HP:0000324Facial asymmetry0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040282 - Frequent8
HP:0000324HP:0000324Facial asymmetry0TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome.18
HP:0000324HP:0000324Facial asymmetry0TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndromeHP:0040281 - Very frequent18
HP:0000324HP:0000324Facial asymmetry0UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040283 - Occasional2
HP:0000324HP:0000324Facial asymmetry0USP9X CL E G H823912632OMIM:300968Mental retardation, X-linked 99, syndromic, female-restricted.27
HP:0000324HP:0000324Facial asymmetry0USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityHP:0040283 - Occasional27
HP:0000324HP:0000324Facial asymmetry0XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040283 - Occasional125
HP:0000324HP:0000324Facial asymmetry0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040282 - Frequent7
HP:0000324HP:0000324Facial asymmetry0YY1 CL E G H752812856OMIM:617557Gabriele-De vries syndrome.7
HP:0000324HP:0000324Facial asymmetry0ZIC1 CL E G H754512872OMIM:618736STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS5
HP:0000324HP:0011331Hemifacial atrophy1 CL E G H
HP:0000324HP:0005323Hemifacial hypertrophy1 CL E G H
HP:0000324HP:0004484Craniofacial asymmetry1CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0000324HP:0004484Craniofacial asymmetry1CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000324HP:0004484Craniofacial asymmetry1FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0000324HP:0004484Craniofacial asymmetry1LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000324HP:0011333Asymmetric crying face1MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndromeHP:0040282 - Frequent21
HP:0000324HP:0004484Craniofacial asymmetry1MAF CL E G H40946776OMIM:601088Ayme-Gripp syndromeHP:0040283 - Occasional21
HP:0000324HP:0004484Craniofacial asymmetry1NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0000324HP:0011333Asymmetric crying face1PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0000324HP:0011332Hemifacial hypoplasia1PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040283 - Occasional19
HP:0000324HP:0011332Hemifacial hypoplasia1RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:0000324HP:0011332Hemifacial hypoplasia1SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia.2
HP:0000324HP:0011332Hemifacial hypoplasia1SIX5 CL E G H14791210891OMIM:610896Branchiootorenal syndrome 2.10


Genes (135) :ADAT3 AKT1 ANOS1 ASPH ATR BCR BMP4 BRCA1 BRCA2 BRIP1 C12ORF57 CDH11 CDK13 CEP85L CHD7 CHN1 CHRNG CHST14 CLTCL1 COL1A1 COL2A1 CPLX1 CRKL CTBP1 CTNND1 DACT1 DDX59 DHX37 EBP EDN1 EDNRA EFNB1 ELMO2 ELOVL4 ERCC4 EYA1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGF9 FGFR2 FGFR3 FGFRL1 FLI1 FLNA FN1 FRAS1 GDF3 GDF5 GDF6 GNAI3 GNAS H19 HRAS IGF2 KAT6A KCNJ2 KCNJ5 KCNQ1OT1 KDM4B KMT2A KRAS LETM1 LRP4 MACF1 MAD2L2 MAF MAFB MAN2C1 MAPK1 MEOX1 MYCN MYH3 MYH8 NBAS NF1 NFIX NOG NRAS NSD2 NTRK2 OFD1 PALB2 PAX1 PIEZO2 PIGN PIK3CA PKD2 PLCB4 POLR1B PORCN PPP2R1A PPP2R5D PSMD12 PTEN PUF60 PURA RAD51 RAD51C RFWD3 RHOA SALL1 SALL4 SATB2 SEMA3E SEPTIN9 SET SF3B2 SIN3A SIX1 SIX5 SLC12A6 SLC37A4 SLX4 SMC1A SMC3 SMO SMS SON SOX5 SP7 TRIO TWIST1 UBE2T USP9X XRCC2 YY1 ZIC1

Diseases (111) :ORPHA:363528 ORPHA:744 OMIM:308700 OMIM:601552 OMIM:210600 ORPHA:261330 OMIM:607932 ORPHA:84 ORPHA:1777 OMIM:211380 OMIM:617360 ORPHA:572013 OMIM:214800 ORPHA:138 ORPHA:233 ORPHA:2990 OMIM:601776 ORPHA:453510 ORPHA:1310 ORPHA:93315 OMIM:194190 OMIM:617681 ORPHA:857 OMIM:174300 OMIM:618731 ORPHA:35173 ORPHA:137888 OMIM:616367 ORPHA:1520 OMIM:304110 OMIM:606893 ORPHA:1955 ORPHA:52429 ORPHA:2792 ORPHA:3237 ORPHA:87 OMIM:101400 ORPHA:794 ORPHA:2308 ORPHA:2484 OMIM:219000 ORPHA:2345 OMIM:118100 ORPHA:562 OMIM:174800 ORPHA:2128 ORPHA:231144 ORPHA:2612 OMIM:616268 OMIM:170390 ORPHA:37553 OMIM:619320 ORPHA:319182 OMIM:600268 OMIM:614305 ORPHA:1272 OMIM:601088 OMIM:619775 OMIM:164280 OMIM:158300 OMIM:614800 ORPHA:363700 ORPHA:420179 OMIM:613886 OMIM:311200 ORPHA:2750 OMIM:114300 ORPHA:376 ORPHA:280633 OMIM:612918 ORPHA:60040 OMIM:613095 OMIM:618939 ORPHA:2092 OMIM:305600 OMIM:616362 ORPHA:457284 ORPHA:457279 OMIM:617516 ORPHA:508488 ORPHA:438216 OMIM:618727 OMIM:607323 ORPHA:251019 ORPHA:251028 ORPHA:576283 OMIM:162100 OMIM:618106 OMIM:164210 ORPHA:94065 OMIM:613406 OMIM:610896 OMIM:218000 OMIM:619525 OMIM:301044 OMIM:610759 ORPHA:1553 OMIM:601707 OMIM:309583 ORPHA:3063 ORPHA:500150 OMIM:617140 OMIM:616803 OMIM:613849 OMIM:617061 ORPHA:476126 OMIM:300968 ORPHA:480880 ORPHA:506358 OMIM:617557 OMIM:618736
 

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