Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the outer ear (HP:0000356)help
Parent Node:
expand
Abnormal pinna morphology (HP:0000377)help
..Starting node
..expand
Protruding ear (HP:0000411)help
Term ID: 411
Name: Protruding ear
Synonym: Prominent ear; Prominent ears; Protruding ears
Definition: Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
Comments:
Reference: HP:0000411
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal antihelix morphology (HP:0009738) help
..expandAbnormal antitragus morphology (HP:0009896) help
..expandAbnormal earlobe morphology (HP:0000363) help
..expandAbnormal helix morphology (HP:0011039) help
..expandAbnormal number of tubercles (HP:0040112) help
..expandAbnormal tragus morphology (HP:0009912) help
..expandAsymmetry of the ears (HP:0010722) help
..expandAuricular pit (HP:0030025) help
..expandAuricular tag (HP:0030021) help
..expandCalcification of the auricular cartilage (HP:0005103) help
..expandChondritis of pinna (HP:0200047) help
..expandCrumpled ear (HP:0009901) help
..expandCryptotia (HP:0011252) help
..expandCupped ear (HP:0000378) help
..expandCystic lesions of the pinnae (HP:0010723) help
..expandHypoplasia of the ear cartilage (HP:0100720) help
..expandLong ear (HP:0400004) help
..expandLop ear (HP:0000394) help
..expandMacrotia (HP:0000400) help
..expandMicrotia (HP:0008551) help
..expandMozart ear (HP:0030677) help
..expandQuelprud nodule (HP:0030023) help
..expandQuestion mark ear (HP:0030022) help
..expandRound ear (HP:0100830) help
..expandSatyr ear (HP:0030676) help
..expandShort ear (HP:0400005) help
..expandThickened ears (HP:0009894) 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:0000411HP:0000411Protruding ear0AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000411HP:0000411Protruding ear0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040283 - Occasional47
HP:0000411HP:0000411Protruding ear0AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndromeHP:0040283 - Occasional36
HP:0000411HP:0000411Protruding ear0AHDC1 CL E G H2724525230OMIM:615829Xia-Gibbs syndrome36
HP:0000411HP:0000411Protruding ear0ALDH18A1 CL E G H58329722ORPHA:90348Autosomal dominant cutis laxa89
HP:0000411HP:0000411Protruding ear0ALDH18A1 CL E G H58329722OMIM:616603Cutis laxa, autosomal dominant 3.89
HP:0000411HP:0000411Protruding ear0ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndromeHP:0040281 - Very frequent102
HP:0000411HP:0000411Protruding ear0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0000411HP:0000411Protruding ear0ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome.8
HP:0000411HP:0000411Protruding ear0AP1S2 CL E G H8905560ORPHA:85329X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndromeHP:0040281 - Very frequent13
HP:0000411HP:0000411Protruding ear0APC CL E G H324583ORPHA:3258Cenani-Lenz syndromeHP:0040283 - Occasional3179
HP:0000411HP:0000411Protruding ear0ARX CL E G H17030218060ORPHA:2508Corpus callosum agenesis-abnormal genitalia syndromeHP:0040282 - Frequent166
HP:0000411HP:0000411Protruding ear0ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia.166
HP:0000411HP:0000411Protruding ear0ATP6V1A CL E G H523851OMIM:617403Cutis laxa, autosomal recessive, type IID.3
HP:0000411HP:0000411Protruding ear0B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional43
HP:0000411HP:0000411Protruding ear0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0000411HP:0000411Protruding ear0B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional17
HP:0000411HP:0000411Protruding ear0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000411HP:0000411Protruding ear0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000411HP:0000411Protruding ear0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0000411HP:0000411Protruding ear0BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional99
HP:0000411HP:0000411Protruding ear0BLM CL E G H6411058OMIM:210900Bloom syndrome.314
HP:0000411HP:0000411Protruding ear0BMP1 CL E G H6491067OMIM:614856Osteogenesis imperfecta, type XIIIHP:0040283 - Occasional49
HP:0000411HP:0000411Protruding ear0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0000411HP:0000411Protruding ear0BSND CL E G H780916512ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040284 - Very rare53
HP:0000411HP:0000411Protruding ear0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000411HP:0000411Protruding ear0CAMK2G CL E G H8181463OMIM:618522Intellectual developmental disorder 59.1
HP:0000411HP:0000411Protruding ear0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation.34
HP:0000411HP:0000411Protruding ear0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000411HP:0000411Protruding ear0CCDC32 CL E G H9041628295OMIM:619123CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS1
HP:0000411HP:0000411Protruding ear0CCDC8 CL E G H8398725367ORPHA:26163M syndromeHP:0040282 - Frequent5
HP:0000411HP:0000411Protruding ear0CCDC8 CL E G H8398725367OMIM:614205THREE M SYNDROME 3; 3M35
HP:0000411HP:0000411Protruding ear0CHRNA7 CL E G H11391960ORPHA:19931815q13.3 microdeletion syndromeHP:0040283 - Occasional52
HP:0000411HP:0000411Protruding ear0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.27
HP:0000411HP:0000411Protruding ear0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent27
HP:0000411HP:0000411Protruding ear0CLCF1 CL E G H2352917412OMIM:610313Cold-Induced sweating syndrome 2.6
HP:0000411HP:0000411Protruding ear0CLCNKA CL E G H11872026ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040284 - Very rare9
HP:0000411HP:0000411Protruding ear0CLCNKB CL E G H11882027ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040284 - Very rare27
HP:0000411HP:0000411Protruding ear0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000411HP:0000411Protruding ear0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 56.1
HP:0000411HP:0000411Protruding ear0COL2A1 CL E G H12802200ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040283 - Occasional284
HP:0000411HP:0000411Protruding ear0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040281 - Very frequent749
HP:0000411HP:0000411Protruding ear0COL4A1 CL E G H12822202ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional193
HP:0000411HP:0000411Protruding ear0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1.442
HP:0000411HP:0000411Protruding ear0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1.478
HP:0000411HP:0000411Protruding ear0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1.702
HP:0000411HP:0000411Protruding ear0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0000411HP:0000411Protruding ear0CRPPA CL E G H72992037276ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional
HP:0000411HP:0000411Protruding ear0CUL7 CL E G H982021024ORPHA:26163M syndromeHP:0040282 - Frequent127
HP:0000411HP:0000411Protruding ear0DAG1 CL E G H16052666ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional108
HP:0000411HP:0000411Protruding ear0DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndromeHP:0040283 - Occasional87
HP:0000411HP:0000411Protruding ear0DCAF17 CL E G H8006725784ORPHA:3464Woodhouse-Sakati syndromeHP:0040281 - Very frequent87
HP:0000411HP:0000411Protruding ear0DHX37 CL E G H5764717210OMIM:618731NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC2
HP:0000411HP:0000411Protruding ear0DLX4 CL E G H17482917OMIM:616788Orofacial cleft 15.1
HP:0000411HP:0000411Protruding ear0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000411HP:0000411Protruding ear0DOCK6 CL E G H5757219189OMIM:614219Adams-Oliver syndrome 2HP:0040283 - Occasional18
HP:0000411HP:0000411Protruding ear0DPP6 CL E G H18043010ORPHA:2514Autosomal dominant primary microcephalyHP:0040283 - Occasional18
HP:0000411HP:0000411Protruding ear0DSE CL E G H2994021144OMIM:615539Ehlers-Danlos syndrome, musculocontractural type, 2.13
HP:0000411HP:0000411Protruding ear0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent13
HP:0000411HP:0000411Protruding ear0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040283 - Occasional134
HP:0000411HP:0000411Protruding ear0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040283 - Occasional134
HP:0000411HP:0000411Protruding ear0EDEM3 CL E G H8026716787OMIM:619493CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000411HP:0000411Protruding ear0EDNRA CL E G H19093179OMIM:616367Mandibulofacial dysostosis with alopecia.3
HP:0000411HP:0000411Protruding ear0EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies.4
HP:0000411HP:0000411Protruding ear0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000411HP:0000411Protruding ear0ELN CL E G H20063327ORPHA:90348Autosomal dominant cutis laxa172
HP:0000411HP:0000411Protruding ear0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040281 - Very frequent172
HP:0000411HP:0000411Protruding ear0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0000411HP:0000411Protruding ear0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitiveHP:0040283 - Occasional106
HP:0000411HP:0000411Protruding ear0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0000411HP:0000411Protruding ear0EXT1 CL E G H21313512ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040281 - Very frequent96
HP:0000411HP:0000411Protruding ear0EYA1 CL E G H21383519ORPHA:2792Otofaciocervical syndromeHP:0040281 - Very frequent135
HP:0000411HP:0000411Protruding ear0FAM20C CL E G H5697522140OMIM:259775Raine syndromeHP:0040283 - Occasional35
HP:0000411HP:0000411Protruding ear0FBLN5 CL E G H105163602ORPHA:90348Autosomal dominant cutis laxa63
HP:0000411HP:0000411Protruding ear0FBN1 CL E G H22003603ORPHA:2462Shprintzen-Goldberg syndromeHP:0040283 - Occasional1361
HP:0000411HP:0000411Protruding ear0FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type).384
HP:0000411HP:0000411Protruding ear0FGFR1 CL E G H22603688ORPHA:2645Osteoglosphonic dysplasiaHP:0040282 - Frequent172
HP:0000411HP:0000411Protruding ear0FIBP CL E G H91583705ORPHA:500095Tall stature-intellectual disability-renal anomalies syndromeHP:0040283 - Occasional2
HP:0000411HP:0000411Protruding ear0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0000411HP:0000411Protruding ear0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000411HP:0000411Protruding ear0FKRP CL E G H7914717997ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional157
HP:0000411HP:0000411Protruding ear0FKTN CL E G H22183622ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional184
HP:0000411HP:0000411Protruding ear0FLNA CL E G H23163754OMIM:300321Fg syndrome 2.493
HP:0000411HP:0000411Protruding ear0FMR1 CL E G H23323775ORPHA:908Fragile X syndromeHP:0040282 - Frequent30
HP:0000411HP:0000411Protruding ear0FN1 CL E G H23353778ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040283 - Occasional9
HP:0000411HP:0000411Protruding ear0FOXG1 CL E G H22903811ORPHA:261144FOXG1 syndrome due to 14q12 microdeletionHP:0040281 - Very frequent177
HP:0000411HP:0000411Protruding ear0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0000411HP:0000411Protruding ear0FRMD4A CL E G H5569125491OMIM:616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia1
HP:0000411HP:0000411Protruding ear0GJA1 CL E G H26974274ORPHA:317Erythrokeratodermia variabilisHP:0040283 - Occasional68
HP:0000411HP:0000411Protruding ear0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0000411HP:0000411Protruding ear0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0000411HP:0000411Protruding ear0GJB3 CL E G H27074285ORPHA:317Erythrokeratodermia variabilisHP:0040283 - Occasional74
HP:0000411HP:0000411Protruding ear0GJB4 CL E G H1275344286ORPHA:317Erythrokeratodermia variabilisHP:0040283 - Occasional12
HP:0000411HP:0000411Protruding ear0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0000411HP:0000411Protruding ear0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000411HP:0000411Protruding ear0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000411HP:0000411Protruding ear0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000411HP:0000411Protruding ear0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000411HP:0000411Protruding ear0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome.
HP:0000411HP:0000411Protruding ear0H19 CL E G H2831204713ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040282 - Frequent4
HP:0000411HP:0000411Protruding ear0HEATR3 CL E G H5502726087OMIM:620072
HP:0000411HP:0000411Protruding ear0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0000411HP:0000411Protruding ear0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0000411HP:0000411Protruding ear0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type.98
HP:0000411HP:0000411Protruding ear0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia93
HP:0000411HP:0000411Protruding ear0IGF2 CL E G H34815466ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040282 - Frequent9
HP:0000411HP:0000411Protruding ear0INSR CL E G H36436091ORPHA:508LeprechaunismHP:0040283 - Occasional229
HP:0000411HP:0000411Protruding ear0INTS1 CL E G H2617324555OMIM:618571NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000411HP:0000411Protruding ear0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040282 - Frequent283
HP:0000411HP:0000411Protruding ear0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040282 - Frequent283
HP:0000411HP:0000411Protruding ear0KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel typeHP:0040282 - Frequent4
HP:0000411HP:0000411Protruding ear0KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndrome.11
HP:0000411HP:0000411Protruding ear0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0000411HP:0000411Protruding ear0KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutationHP:0040283 - Occasional81
HP:0000411HP:0000411Protruding ear0KDM6A CL E G H740312637ORPHA:2322Kabuki syndromeHP:0040281 - Very frequent53
HP:0000411HP:0000411Protruding ear0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 153
HP:0000411HP:0000411Protruding ear0KDM6A CL E G H740312637OMIM:300867Kabuki syndrome 253
HP:0000411HP:0000411Protruding ear0KDSR CL E G H25314021ORPHA:317Erythrokeratodermia variabilisHP:0040283 - Occasional4
HP:0000411HP:0000411Protruding ear0KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation.46
HP:0000411HP:0000411Protruding ear0KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndromeHP:0040283 - Occasional46
HP:0000411HP:0000411Protruding ear0KMT2D CL E G H80857133ORPHA:2322Kabuki syndromeHP:0040281 - Very frequent660
HP:0000411HP:0000411Protruding ear0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1660
HP:0000411HP:0000411Protruding ear0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0000411HP:0000411Protruding ear0LARGE1 CL E G H92156511ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional136
HP:0000411HP:0000411Protruding ear0LGI4 CL E G H16317518712OMIM:617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect.6
HP:0000411HP:0000411Protruding ear0LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040282 - Frequent88
HP:0000411HP:0000411Protruding ear0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000411HP:0000411Protruding ear0LMNB1 CL E G H40016637ORPHA:2514Autosomal dominant primary microcephalyHP:0040283 - Occasional44
HP:0000411HP:0000411Protruding ear0LRP4 CL E G H40386696ORPHA:3258Cenani-Lenz syndromeHP:0040283 - Occasional124
HP:0000411HP:0000411Protruding ear0MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome.
HP:0000411HP:0000411Protruding ear0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000411HP:0000411Protruding ear0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1.252
HP:0000411HP:0000411Protruding ear0MBTPS2 CL E G H5136015455ORPHA:85284BRESEK syndromeHP:0040281 - Very frequent22
HP:0000411HP:0000411Protruding ear0MED12 CL E G H996811957ORPHA:776Lujan-Fryns syndromeHP:0040283 - Occasional228
HP:0000411HP:0000411Protruding ear0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 2HP:0040283 - Occasional13
HP:0000411HP:0000411Protruding ear0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000411HP:0000411Protruding ear0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000411HP:0000411Protruding ear0MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0000411HP:0000411Protruding ear0MYH3 CL E G H46217573ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent166
HP:0000411HP:0000411Protruding ear0MYMX CL E G H10192972652391OMIM:619941
HP:0000411HP:0000411Protruding ear0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0000411HP:0000411Protruding ear0NALCN CL E G H25923219082ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent48
HP:0000411HP:0000411Protruding ear0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040281 - Very frequent13
HP:0000411HP:0000411Protruding ear0NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040283 - Occasional39
HP:0000411HP:0000411Protruding ear0NDST1 CL E G H33407680OMIM:616116Mental retardation, autosomal recessive 4627
HP:0000411HP:0000411Protruding ear0NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndromeHP:0040282 - Frequent4
HP:0000411HP:0000411Protruding ear0NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2HP:0040283 - Occasional101
HP:0000411HP:0000411Protruding ear0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040283 - Occasional1952
HP:0000411HP:0000411Protruding ear0NHS CL E G H48107820ORPHA:627Nance-Horan syndromeHP:0040282 - Frequent88
HP:0000411HP:0000411Protruding ear0NKAP CL E G H7957629873OMIM:301039INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0000411HP:0000411Protruding ear0NR2F1 CL E G H70257975OMIM:615722Bosch-Boonstra-Schaaf optic atrophy syndrome37
HP:0000411HP:0000411Protruding ear0NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndromeHP:0040283 - Occasional37
HP:0000411HP:0000411Protruding ear0NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0000411HP:0000411Protruding ear0NSRP1 CL E G H8408125305OMIM:620001
HP:0000411HP:0000411Protruding ear0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040282 - Frequent84
HP:0000411HP:0000411Protruding ear0OBSL1 CL E G H2336329092OMIM:6129213-M syndrome 2143
HP:0000411HP:0000411Protruding ear0OBSL1 CL E G H2336329092ORPHA:26163M syndromeHP:0040282 - Frequent143
HP:0000411HP:0000411Protruding ear0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040282 - Frequent88
HP:0000411HP:0000411Protruding ear0OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies.4
HP:0000411HP:0000411Protruding ear0PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndromeHP:0040282 - Frequent24
HP:0000411HP:0000411Protruding ear0PAX1 CL E G H50758615ORPHA:2792Otofaciocervical syndromeHP:0040281 - Very frequent3
HP:0000411HP:0000411Protruding ear0PIEZO2 CL E G H6389526270OMIM:108145Arthrogryposis, distal, type 5.77
HP:0000411HP:0000411Protruding ear0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0000411HP:0000411Protruding ear0PLK4 CL E G H1073311397ORPHA:2518Autosomal recessive chorioretinopathy-microcephaly syndromeHP:0040282 - Frequent11
HP:0000411HP:0000411Protruding ear0POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0000411HP:0000411Protruding ear0POMGNT1 CL E G H5562419139ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional180
HP:0000411HP:0000411Protruding ear0POMGNT2 CL E G H8489225902ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional33
HP:0000411HP:0000411Protruding ear0POMK CL E G H8419726267ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional18
HP:0000411HP:0000411Protruding ear0POMT1 CL E G H105859202ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional213
HP:0000411HP:0000411Protruding ear0POMT2 CL E G H2995419743ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional221
HP:0000411HP:0000411Protruding ear0POU3F3 CL E G H54559216OMIM:618604SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0000411HP:0000411Protruding ear0PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000411HP:0000411Protruding ear0PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome.28
HP:0000411HP:0000411Protruding ear0PQBP1 CL E G H100849330ORPHA:93947X-linked intellectual disability, Golabi-Ito-Hall typeHP:0040281 - Very frequent28
HP:0000411HP:0000411Protruding ear0PRUNE1 CL E G H5849713420OMIM:617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies.8
HP:0000411HP:0000411Protruding ear0PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1.291
HP:0000411HP:0000411Protruding ear0PUS7 CL E G H5451726033OMIM:618342Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0000411HP:0000411Protruding ear0PYCR1 CL E G H58319721OMIM:612940Cutis laxa, autosomal recessive, type IIB.53
HP:0000411HP:0000411Protruding ear0PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathyHP:0040282 - Frequent11
HP:0000411HP:0000411Protruding ear0RB1 CL E G H59259884ORPHA:1587Monosomy 13q14HP:0040282 - Frequent365
HP:0000411HP:0000411Protruding ear0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000411HP:0000411Protruding ear0RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000411HP:0000411Protruding ear0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0000411HP:0000411Protruding ear0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040283 - Occasional10
HP:0000411HP:0000411Protruding ear0RPL10 CL E G H613410298ORPHA:435938X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndromeHP:0040282 - Frequent10
HP:0000411HP:0000411Protruding ear0RPS6KA3 CL E G H619710432OMIM:303600Coffin-Lowry syndrome.65
HP:0000411HP:0000411Protruding ear0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndromeHP:0040282 - Frequent65
HP:0000411HP:0000411Protruding ear0RXYLT1 CL E G H1032913530ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional
HP:0000411HP:0000411Protruding ear0RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional1200
HP:0000411HP:0000411Protruding ear0SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome.11
HP:0000411HP:0000411Protruding ear0SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0000411HP:0000411Protruding ear0SH3PXD2B CL E G H28559029242ORPHA:137834Frank-Ter Haar syndromeHP:0040282 - Frequent134
HP:0000411HP:0000411Protruding ear0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome.53
HP:0000411HP:0000411Protruding ear0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000411HP:0000411Protruding ear0SKI CL E G H649710896ORPHA:2462Shprintzen-Goldberg syndromeHP:0040283 - Occasional150
HP:0000411HP:0000411Protruding ear0SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndromeHP:0040283 - Occasional4
HP:0000411HP:0000411Protruding ear0SMPD4 CL E G H5562732949OMIM:618622NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA1
HP:0000411HP:0000411Protruding ear0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0000411HP:0000411Protruding ear0SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0000411HP:0000411Protruding ear0SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional20
HP:0000411HP:0000411Protruding ear0SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0000411HP:0000411Protruding ear0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000411HP:0000411Protruding ear0SRCAP CL E G H1084716974OMIM:619595DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA138
HP:0000411HP:0000411Protruding ear0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000411HP:0000411Protruding ear0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0000411HP:0000411Protruding ear0TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeHP:0040281 - Very frequent21
HP:0000411HP:0000411Protruding ear0TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000411HP:0000411Protruding ear0TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000411HP:0000411Protruding ear0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000411HP:0000411Protruding ear0TBX22 CL E G H5094511600OMIM:302905Charge-Like syndrome, X-linked.28
HP:0000411HP:0000411Protruding ear0TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndromeHP:0040283 - Occasional55
HP:0000411HP:0000411Protruding ear0TET3 CL E G H20042428313OMIM:618798BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000411HP:0000411Protruding ear0TFAP2B CL E G H702111743OMIM:169100Char syndrome.104
HP:0000411HP:0000411Protruding ear0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000411HP:0000411Protruding ear0TNNI2 CL E G H713611946ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent37
HP:0000411HP:0000411Protruding ear0TNNT3 CL E G H714011950ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent43
HP:0000411HP:0000411Protruding ear0TP63 CL E G H862615979ORPHA:69085Limb-mammary syndromeHP:0040284 - Very rare140
HP:0000411HP:0000411Protruding ear0TPM2 CL E G H716912011ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent54
HP:0000411HP:0000411Protruding ear0TRAIP CL E G H1029330764OMIM:616777Seckel syndrome 92
HP:0000411HP:0000411Protruding ear0TRMT1 CL E G H5562125980OMIM:618302Intellectual developmental disorder, autosomal recessive 681
HP:0000411HP:0000411Protruding ear0TRPS1 CL E G H722712340ORPHA:77258Trichorhinophalangeal syndrome type 1 and 3HP:0040281 - Very frequent171
HP:0000411HP:0000411Protruding ear0TRPS1 CL E G H722712340ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040281 - Very frequent171
HP:0000411HP:0000411Protruding ear0TRPS1 CL E G H722712340OMIM:190350Trichorhinophalangeal syndrome, type I.171
HP:0000411HP:0000411Protruding ear0TRPS1 CL E G H722712340OMIM:190351Trichorhinophalangeal syndrome, type III.171
HP:0000411HP:0000411Protruding ear0TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000411HP:0000411Protruding ear0TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional7128
HP:0000411HP:0000411Protruding ear0TUBGCP2 CL E G H1084418599OMIM:618737PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000411HP:0000411Protruding ear0TUBGCP4 CL E G H2722916691ORPHA:2518Autosomal recessive chorioretinopathy-microcephaly syndromeHP:0040282 - Frequent14
HP:0000411HP:0000411Protruding ear0TUBGCP6 CL E G H8537818127ORPHA:2518Autosomal recessive chorioretinopathy-microcephaly syndromeHP:0040282 - Frequent61
HP:0000411HP:0000411Protruding ear0TXNL4A CL E G H1090730551OMIM:608572Burn-Mckeown syndrome.19
HP:0000411HP:0000411Protruding ear0UBA2 CL E G H1005430661OMIM:619959
HP:0000411HP:0000411Protruding ear0UPF3B CL E G H6510920439ORPHA:776Lujan-Fryns syndromeHP:0040283 - Occasional33
HP:0000411HP:0000411Protruding ear0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000411HP:0000411Protruding ear0WDR19 CL E G H5772818340OMIM:614378Cranioectodermal dysplasia 4HP:0040283 - Occasional95
HP:0000411HP:0000411Protruding ear0WNT4 CL E G H5436112783ORPHA:247768Müllerian aplasia and hyperandrogenismHP:0040283 - Occasional4
HP:0000411HP:0000411Protruding ear0WNT7A CL E G H747612786ORPHA:2879Phocomelia, Schinzel typeHP:0040283 - Occasional13
HP:0000411HP:0000411Protruding ear0ZDHHC9 CL E G H5111418475ORPHA:776Lujan-Fryns syndromeHP:0040283 - Occasional10
HP:0000411HP:0000411Protruding ear0ZDHHC9 CL E G H5111418475OMIM:300799Mental retardation, x-linked syndromic, Raymond type.10
HP:0000411HP:0000411Protruding ear0ZNF407 CL E G H5562819904OMIM:619557SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA68
HP:0000411HP:0000411Protruding ear0ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4


Genes (208) :AARS1 ADNP AHDC1 ALDH18A1 ANKRD11 ANTXR1 AP1S2 APC ARX ATP6V1A B3GALNT2 B3GLCT B4GAT1 BAZ1B BCL7B BICRA BIN1 BLM BMP1 BMP4 BSND BUD23 CAMK2G CAMTA1 CARS1 CCDC32 CCDC8 CHRNA7 CHST14 CLCF1 CLCNKA CLCNKB CLIP2 CLTC COL2A1 COL3A1 COL4A1 COL6A1 COL6A2 COL6A3 CREBBP CRPPA CUL7 DAG1 DCAF17 DHX37 DLX4 DNAJC30 DOCK6 DPP6 DSE DYRK1A EDEM3 EDNRA EIF4A3 EIF4H ELN ERCC2 ERCC3 EXT1 EYA1 FAM20C FBLN5 FBN1 FBXL4 FGFR1 FIBP FIG4 FKBP6 FKRP FKTN FLNA FMR1 FN1 FOXG1 FRMD4A GJA1 GJA5 GJA8 GJB3 GJB4 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 H19 HEATR3 HNRNPK HUWE1 IFT122 IGF2 INSR INTS1 KANSL1 KCNK9 KCTD1 KDM5C KDM6A KDSR KIF11 KMT2D KNSTRN LARGE1 LGI4 LIG4 LIMK1 LMNB1 LRP4 MAB21L1 MAPK8IP3 MBD5 MBTPS2 MED12 MEGF8 METTL27 MLXIPL MPLKIP MYH3 MYMX NAA10 NALCN NCF1 NDP NDST1 NECTIN1 NEK1 NF1 NHS NKAP NR2F1 NSD2 NSRP1 NSUN2 OBSL1 OCRL OTUD6B PACS1 PAX1 PIEZO2 PIK3CD PLK4 POLA1 POMGNT1 POMGNT2 POMK POMT1 POMT2 POU3F3 PPP1R12A PQBP1 PRUNE1 PTPN11 PUS7 PYCR1 PYCR2 RB1 RFC2 RNF113A RPL10 RPS6KA3 RXYLT1 RYR1 SCARF2 SH3PXD2B SHANK3 SIN3A SKI SLC1A4 SMPD4 SON SPEG SPOP SPTBN1 SRCAP STX1A TAF1 TARS1 TASP1 TBL2 TBX22 TBX4 TET3 TFAP2B TMEM270 TNNI2 TNNT3 TP63 TPM2 TRAIP TRMT1 TRPS1 TTC26 TTN TUBGCP2 TUBGCP4 TUBGCP6 TXNL4A UBA2 UPF3B VPS37D WDR19 WNT4 WNT7A ZDHHC9 ZNF407 ZNF462

Diseases (166) :OMIM:619691 ORPHA:404448 ORPHA:412069 OMIM:615829 ORPHA:90348 OMIM:616603 ORPHA:261250 OMIM:148050 OMIM:230740 ORPHA:85329 ORPHA:3258 ORPHA:2508 OMIM:300004 OMIM:617403 ORPHA:899 OMIM:261540 ORPHA:904 OMIM:619325 ORPHA:169186 OMIM:210900 OMIM:614856 OMIM:607932 ORPHA:89938 OMIM:618522 OMIM:614756 ORPHA:33364 OMIM:619123 ORPHA:2616 OMIM:614205 ORPHA:199318 OMIM:601776 ORPHA:2953 OMIM:610313 OMIM:617854 ORPHA:93315 ORPHA:286 OMIM:254090 OMIM:618332 OMIM:241080 ORPHA:3464 OMIM:618731 OMIM:616788 OMIM:614219 ORPHA:2514 OMIM:615539 ORPHA:268261 ORPHA:464311 OMIM:619493 OMIM:616367 OMIM:268305 OMIM:601675 ORPHA:502 ORPHA:2792 OMIM:259775 ORPHA:2462 OMIM:615471 ORPHA:2645 ORPHA:500095 OMIM:216340 OMIM:300321 ORPHA:908 ORPHA:261144 OMIM:613454 OMIM:616819 ORPHA:317 OMIM:612474 OMIM:617988 ORPHA:231140 OMIM:620072 ORPHA:352665 ORPHA:453504 OMIM:309590 OMIM:218330 ORPHA:508 OMIM:618571 ORPHA:363958 ORPHA:363965 ORPHA:166108 OMIM:181270 OMIM:300534 ORPHA:85279 ORPHA:2322 OMIM:147920 OMIM:300867 OMIM:152950 ORPHA:2526 ORPHA:221139 OMIM:617468 ORPHA:235 OMIM:618479 OMIM:618443 OMIM:156200 ORPHA:85284 ORPHA:776 OMIM:614976 ORPHA:1147 OMIM:619941 OMIM:300855 ORPHA:649 OMIM:616116 ORPHA:3253 ORPHA:2751 ORPHA:363700 ORPHA:627 OMIM:301039 OMIM:615722 ORPHA:401777 OMIM:619695 OMIM:620001 OMIM:612921 ORPHA:534 OMIM:617452 ORPHA:329224 OMIM:108145 ORPHA:2518 OMIM:301030 OMIM:618604 OMIM:618820 OMIM:309500 ORPHA:93947 OMIM:617481 OMIM:151100 OMIM:618342 OMIM:612940 ORPHA:481152 ORPHA:1587 OMIM:300998 ORPHA:459070 ORPHA:435938 OMIM:303600 ORPHA:192 OMIM:600920 OMIM:249420 ORPHA:137834 OMIM:606232 OMIM:613406 ORPHA:447997 OMIM:618622 ORPHA:500150 OMIM:617140 OMIM:618829 OMIM:619475 OMIM:619595 OMIM:300966 ORPHA:480907 OMIM:618950 OMIM:302905 ORPHA:261279 OMIM:618798 OMIM:169100 ORPHA:69085 OMIM:616777 OMIM:618302 ORPHA:77258 OMIM:190350 OMIM:190351 OMIM:619534 OMIM:618737 OMIM:608572 OMIM:619959 OMIM:614378 ORPHA:247768 ORPHA:2879 OMIM:300799 OMIM:619557 OMIM:618619
 

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