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
Macrotia (HP:0000400)help
Term ID: 400
Name: Macrotia
Synonym: Large ears; Large pinnae
Definition: Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Comments:
Reference: HP:0000400
Genes and Diseases:
 
       Child Nodes:
........expandLarge fleshy ears (HP:0002265) help

 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
..expandMicrotia (HP:0008551) help
..expandMozart ear (HP:0030677) help
..expandProtruding ear (HP:0000411) 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:0000400HP:0000400Macrotia0ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndromeHP:0040282 - Frequent
HP:0000400HP:0000400Macrotia0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040283 - Occasional9
HP:0000400HP:0000400Macrotia0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040283 - Occasional
HP:0000400HP:0000400Macrotia0AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2.
HP:0000400HP:0000400Macrotia0AGPAT2 CL E G H10555325OMIM:608594Lipodystrophy, congenital generalized, type 1.85
HP:0000400HP:0000400Macrotia0AHSG CL E G H197349ORPHA:2850Alopecia-intellectual disability syndromeHP:0040283 - Occasional5
HP:0000400HP:0000400Macrotia0AIP CL E G H9049358ORPHA:963AcromegalyHP:0040281 - Very frequent95
HP:0000400HP:0000400Macrotia0AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040282 - Frequent54
HP:0000400HP:0000400Macrotia0ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA.89
HP:0000400HP:0000400Macrotia0ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id.37
HP:0000400HP:0000400Macrotia0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDG93
HP:0000400HP:0000400Macrotia0ALG9 CL E G H7979615672OMIM:263210Gillessen-Kaesbach-Nishimura syndrome93
HP:0000400HP:0000400Macrotia0ALKBH8 CL E G H9180125189OMIM:618504Intellectual developmental disorder, autosomal recessive 71.
HP:0000400HP:0000400Macrotia0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome.102
HP:0000400HP:0000400Macrotia0ANKRD11 CL E G H2912321316ORPHA:2332KBG syndromeHP:0040282 - Frequent102
HP:0000400HP:0000400Macrotia0AP1S2 CL E G H8905560ORPHA:85335Fried syndromeHP:0040282 - Frequent13
HP:0000400HP:0000400Macrotia0AP3D1 CL E G H8943568OMIM:617050HERMANSKY-PUDLAK SYNDROME 10; HPS101
HP:0000400HP:0000400Macrotia0ASNS CL E G H440753OMIM:615574Asparagine synthetase deficiency.17
HP:0000400HP:0000400Macrotia0ATP6V1A CL E G H523851OMIM:617403Cutis laxa, autosomal recessive, type IID.3
HP:0000400HP:0000400Macrotia0ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndrome5
HP:0000400HP:0000400Macrotia0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000400HP:0000400Macrotia0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000400HP:0000400Macrotia0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 6.38
HP:0000400HP:0000400Macrotia0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent276
HP:0000400HP:0000400Macrotia0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional
HP:0000400HP:0000400Macrotia0BRWD3 CL E G H25406517342OMIM:300659MENTAL RETARDATION, X-LINKED 93; MRX93104
HP:0000400HP:0000400Macrotia0BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2.105
HP:0000400HP:0000400Macrotia0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000400HP:0000400Macrotia0CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0000400HP:0000400Macrotia0CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia118
HP:0000400HP:0000400Macrotia0CASK CL E G H85731497ORPHA:163937X-linked intellectual disability, Najm typeHP:0040282 - Frequent118
HP:0000400HP:0000400Macrotia0CBL CL E G H8671541OMIM:613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia.317
HP:0000400HP:0000400Macrotia0CENPE CL E G H10621856OMIM:616051Microcephaly 13, primary, autosomal recessive20
HP:0000400HP:0000400Macrotia0CEP120 CL E G H15324126690OMIM:616300Short-Rib thoracic dysplasia 13 with or without polydactyly.7
HP:0000400HP:0000400Macrotia0CHRNA1 CL E G H11341955OMIM:608930Myasthenic syndrome, congenital, 1B, fast-channel.74
HP:0000400HP:0000400Macrotia0CHRNA7 CL E G H11391960ORPHA:19931815q13.3 microdeletion syndromeHP:0040283 - Occasional52
HP:0000400HP:0000400Macrotia0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent27
HP:0000400HP:0000400Macrotia0CIT CL E G H111131985OMIM:617090Microcephaly 17, primary, autosomal recessive.15
HP:0000400HP:0000400Macrotia0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0000400HP:0000400Macrotia0CLIC2 CL E G H11932063OMIM:300886MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS324
HP:0000400HP:0000400Macrotia0CLIC2 CL E G H11932063ORPHA:324410X-linked intellectual disability-cardiomegaly-congestive heart failure syndromeHP:0040282 - Frequent4
HP:0000400HP:0000400Macrotia0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000400HP:0000400Macrotia0COLEC10 CL E G H105842220ORPHA:2938433MC syndrome3
HP:0000400HP:0000400Macrotia0COLEC11 CL E G H7898917213ORPHA:2938433MC syndrome9
HP:0000400HP:0000400Macrotia0CPE CL E G H13632303OMIM:619326BDV SYNDROME; BDVS
HP:0000400HP:0000400Macrotia0CTU2 CL E G H34818028005OMIM:618142Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome.1
HP:0000400HP:0000400Macrotia0CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndromeHP:0040283 - Occasional4
HP:0000400HP:0000400Macrotia0CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies4
HP:0000400HP:0000400Macrotia0DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000400HP:0000400Macrotia0DENND5A CL E G H2325819344OMIM:617281Epileptic encephalopathy, early infantile, 49.6
HP:0000400HP:0000400Macrotia0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000400HP:0000400Macrotia0DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7.
HP:0000400HP:0000400Macrotia0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000400HP:0000400Macrotia0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent13
HP:0000400HP:0000400Macrotia0DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0000400HP:0000400Macrotia0EED CL E G H87263188OMIM:617561Cohen-Gibson syndrome4
HP:0000400HP:0000400Macrotia0EED CL E G H87263188ORPHA:3447Weaver syndromeHP:0040281 - Very frequent4
HP:0000400HP:0000400Macrotia0EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome.8
HP:0000400HP:0000400Macrotia0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000400HP:0000400Macrotia0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040281 - Very frequent172
HP:0000400HP:0000400Macrotia0ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional20
HP:0000400HP:0000400Macrotia0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive106
HP:0000400HP:0000400Macrotia0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional158
HP:0000400HP:0000400Macrotia0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional199
HP:0000400HP:0000400Macrotia0ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional199
HP:0000400HP:0000400Macrotia0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040283 - Occasional199
HP:0000400HP:0000400Macrotia0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional55
HP:0000400HP:0000400Macrotia0ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional55
HP:0000400HP:0000400Macrotia0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040283 - Occasional55
HP:0000400HP:0000400Macrotia0EYA1 CL E G H21383519ORPHA:2792Otofaciocervical syndromeHP:0040281 - Very frequent135
HP:0000400HP:0000400Macrotia0EZH2 CL E G H21463527OMIM:277590Weaver syndrome.81
HP:0000400HP:0000400Macrotia0EZH2 CL E G H21463527ORPHA:3447Weaver syndromeHP:0040281 - Very frequent81
HP:0000400HP:0000400Macrotia0FAR1 CL E G H8418826222ORPHA:438178Fatty acyl-CoA reductase 1 deficiencyHP:0040283 - Occasional7
HP:0000400HP:0000400Macrotia0FAR1 CL E G H8418826222OMIM:616154PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD7
HP:0000400HP:0000400Macrotia0FDFT1 CL E G H22223629OMIM:618156SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000400HP:0000400Macrotia0FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndromeHP:0040281 - Very frequent175
HP:0000400HP:0000400Macrotia0FIBP CL E G H91583705ORPHA:500095Tall stature-intellectual disability-renal anomalies syndromeHP:0040283 - Occasional2
HP:0000400HP:0000400Macrotia0FIBP CL E G H91583705OMIM:617107Thauvin-Robinet-Faivre syndrome.2
HP:0000400HP:0000400Macrotia0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000400HP:0000400Macrotia0FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome.493
HP:0000400HP:0000400Macrotia0FMR1 CL E G H23323775OMIM:300624Fragile X mental retardation syndrome.30
HP:0000400HP:0000400Macrotia0FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriersHP:0040284 - Very rare30
HP:0000400HP:0000400Macrotia0FTSJ1 CL E G H2414013254OMIM:309549Mental retardation, X-linked 913
HP:0000400HP:0000400Macrotia0GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1HP:0040283 - Occasional120
HP:0000400HP:0000400Macrotia0GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9173
HP:0000400HP:0000400Macrotia0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000400HP:0000400Macrotia0GON7 CL E G H8452020356OMIM:619603GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0000400HP:0000400Macrotia0GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040281 - Very frequent5
HP:0000400HP:0000400Macrotia0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0000400HP:0000400Macrotia0GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities.
HP:0000400HP:0000400Macrotia0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000400HP:0000400Macrotia0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000400HP:0000400Macrotia0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000400HP:0000400Macrotia0HDAC4 CL E G H975914063OMIM:619797NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF33
HP:0000400HP:0000400Macrotia0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional37
HP:0000400HP:0000400Macrotia0HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language11
HP:0000400HP:0000400Macrotia0HERC1 CL E G H89254867OMIM:617011Macrocephaly, dysmorphic facies, and psychomotor retardation.16
HP:0000400HP:0000400Macrotia0HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndromeHP:0040282 - Frequent16
HP:0000400HP:0000400Macrotia0HHAT CL E G H5573318270ORPHA:1422Chondrodysplasia-disorder of sex development syndromeHP:0040281 - Very frequent
HP:0000400HP:0000400Macrotia0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0000400HP:0000400Macrotia0INSR CL E G H36436091OMIM:246200Donohue syndrome.229
HP:0000400HP:0000400Macrotia0INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndromeHP:0040283 - Occasional229
HP:0000400HP:0000400Macrotia0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0000400HP:0000400Macrotia0IQSEC2 CL E G H2309629059ORPHA:397933Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndromeHP:0040283 - Occasional119
HP:0000400HP:0000400Macrotia0ITGA3 CL E G H36756139OMIM:614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital.6
HP:0000400HP:0000400Macrotia0ITGB6 CL E G H36946161ORPHA:2850Alopecia-intellectual disability syndromeHP:0040283 - Occasional8
HP:0000400HP:0000400Macrotia0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0000400HP:0000400Macrotia0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040282 - Frequent283
HP:0000400HP:0000400Macrotia0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome283
HP:0000400HP:0000400Macrotia0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040282 - Frequent283
HP:0000400HP:0000400Macrotia0KATNB1 CL E G H103006217OMIM:616212Lissencephaly 6, with microcephaly10
HP:0000400HP:0000400Macrotia0KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040282 - Frequent13
HP:0000400HP:0000400Macrotia0KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndrome13
HP:0000400HP:0000400Macrotia0KCNJ1 CL E G H37586255OMIM:241200Bartter syndrome, antenatal, type 2.51
HP:0000400HP:0000400Macrotia0KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndrome7
HP:0000400HP:0000400Macrotia0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000400HP:0000400Macrotia0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0000400HP:0000400Macrotia0KDM6A CL E G H740312637ORPHA:2322Kabuki syndromeHP:0040281 - Very frequent53
HP:0000400HP:0000400Macrotia0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 1.53
HP:0000400HP:0000400Macrotia0KDM6A CL E G H740312637OMIM:300867Kabuki syndrome 253
HP:0000400HP:0000400Macrotia0KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.9
HP:0000400HP:0000400Macrotia0KIF1A CL E G H547888ORPHA:2836PEHO syndromeHP:0040281 - Very frequent276
HP:0000400HP:0000400Macrotia0KIFBP CL E G H2612823419ORPHA:66629Goldberg-Shprintzen megacolon syndromeHP:0040283 - Occasional
HP:0000400HP:0000400Macrotia0KMT2D CL E G H80857133ORPHA:2322Kabuki syndromeHP:0040281 - Very frequent660
HP:0000400HP:0000400Macrotia0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1.660
HP:0000400HP:0000400Macrotia0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent196
HP:0000400HP:0000400Macrotia0LAGE3 CL E G H827026058ORPHA:2065Galloway-Mowat syndromeHP:0040282 - Frequent
HP:0000400HP:0000400Macrotia0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000400HP:0000400Macrotia0LMBRD2 CL E G H9225525287OMIM:619694DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000400HP:0000400Macrotia0LSS CL E G H40476708ORPHA:2850Alopecia-intellectual disability syndromeHP:0040283 - Occasional2
HP:0000400HP:0000400Macrotia0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDGHP:0040282 - Frequent93
HP:0000400HP:0000400Macrotia0MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0000400HP:0000400Macrotia0MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis.136
HP:0000400HP:0000400Macrotia0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent134
HP:0000400HP:0000400Macrotia0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent178
HP:0000400HP:0000400Macrotia0MASP1 CL E G H56486901ORPHA:2938433MC syndrome21
HP:0000400HP:0000400Macrotia0MBTPS1 CL E G H872015456OMIM:618392Spondyloepiphyseal dysplasia, Kondo-Fu type.
HP:0000400HP:0000400Macrotia0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040283 - Occasional22
HP:0000400HP:0000400Macrotia0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0000400HP:0000400Macrotia0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0000400HP:0000400Macrotia0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040283 - Occasional74
HP:0000400HP:0000400Macrotia0MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defects.74
HP:0000400HP:0000400Macrotia0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000400HP:0000400Macrotia0METTL5 CL E G H2908125006OMIM:618665INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000400HP:0000400Macrotia0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0000400HP:0000400Macrotia0MGP CL E G H42567060OMIM:245150Keutel syndrome.33
HP:0000400HP:0000400Macrotia0MID2 CL E G H110437096OMIM:300928MENTAL RETARDATION, X-LINKED 101; MRX1017
HP:0000400HP:0000400Macrotia0MINPP1 CL E G H95627102ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040282 - Frequent3
HP:0000400HP:0000400Macrotia0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000400HP:0000400Macrotia0MMACHC CL E G H2597424525OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.101
HP:0000400HP:0000400Macrotia0MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitive.9
HP:0000400HP:0000400Macrotia0NAA10 CL E G H826018704OMIM:300855Ogden syndrome.23
HP:0000400HP:0000400Macrotia0NAA10 CL E G H826018704ORPHA:276432Ogden syndromeHP:0040283 - Occasional23
HP:0000400HP:0000400Macrotia0NALCN CL E G H25923219082OMIM:615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1.48
HP:0000400HP:0000400Macrotia0NARS1 CL E G H46777643OMIM:619092NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0000400HP:0000400Macrotia0NBN CL E G H46837652OMIM:251260Nijmegen breakage syndrome.706
HP:0000400HP:0000400Macrotia0NBN CL E G H46837652ORPHA:647Nijmegen breakage syndromeHP:0040281 - Very frequent706
HP:0000400HP:0000400Macrotia0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040281 - Very frequent13
HP:0000400HP:0000400Macrotia0NDE1 CL E G H5482017619OMIM:605013MICROHYDRANENCEPHALY.96
HP:0000400HP:0000400Macrotia0NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040281 - Very frequent39
HP:0000400HP:0000400Macrotia0NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndromeHP:0040281 - Very frequent4
HP:0000400HP:0000400Macrotia0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0000400HP:0000400Macrotia0NHS CL E G H48107820OMIM:302350Nance-Horan syndrome.88
HP:0000400HP:0000400Macrotia0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional494
HP:0000400HP:0000400Macrotia0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0000400HP:0000400Macrotia0NSD1 CL E G H6432414234ORPHA:3447Weaver syndromeHP:0040281 - Very frequent544
HP:0000400HP:0000400Macrotia0NUP107 CL E G H5712229914ORPHA:2065Galloway-Mowat syndromeHP:0040282 - Frequent5
HP:0000400HP:0000400Macrotia0NUP133 CL E G H5574618016ORPHA:2065Galloway-Mowat syndromeHP:0040282 - Frequent1
HP:0000400HP:0000400Macrotia0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040282 - Frequent1
HP:0000400HP:0000400Macrotia0OPHN1 CL E G H49838148OMIM:300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance.55
HP:0000400HP:0000400Macrotia0OSGEP CL E G H5564418028ORPHA:2065Galloway-Mowat syndromeHP:0040282 - Frequent
HP:0000400HP:0000400Macrotia0OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndromeHP:0040282 - Frequent4
HP:0000400HP:0000400Macrotia0OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4
HP:0000400HP:0000400Macrotia0PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndromeHP:0040283 - Occasional24
HP:0000400HP:0000400Macrotia0PACS1 CL E G H5569030032OMIM:615009Schuurs-Hoeijmakers syndrome24
HP:0000400HP:0000400Macrotia0PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0000400HP:0000400Macrotia0PAX1 CL E G H50758615ORPHA:2792Otofaciocervical syndromeHP:0040281 - Very frequent3
HP:0000400HP:0000400Macrotia0PCLO CL E G H2744513406OMIM:608027Pontocerebellar hypoplasia, type 3.6
HP:0000400HP:0000400Macrotia0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0000400HP:0000400Macrotia0PHF6 CL E G H8429518145OMIM:301900Borjeson-Forssman-Lehmann syndrome.29
HP:0000400HP:0000400Macrotia0PHGDH CL E G H262278923OMIM:256520Neu-Laxova syndrome.37
HP:0000400HP:0000400Macrotia0PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features.11
HP:0000400HP:0000400Macrotia0PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0000400HP:0000400Macrotia0PIEZO2 CL E G H6389526270ORPHA:1154Arthrogryposis-oculomotor limitation-electroretinal anomalies syndromeHP:0040282 - Frequent77
HP:0000400HP:0000400Macrotia0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome37
HP:0000400HP:0000400Macrotia0PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 137
HP:0000400HP:0000400Macrotia0PIK3R1 CL E G H52958979OMIM:269880Short syndrome.43
HP:0000400HP:0000400Macrotia0PLCH1 CL E G H2300729185OMIM:619895
HP:0000400HP:0000400Macrotia0PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia.150
HP:0000400HP:0000400Macrotia0PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040283 - Occasional150
HP:0000400HP:0000400Macrotia0POLR1A CL E G H2588517264OMIM:616462Acrofacial dysostosis, Cincinnati type.8
HP:0000400HP:0000400Macrotia0PPP1CB CL E G H55009282ORPHA:2701Noonan syndrome-like disorder with loose anagen hairHP:0040282 - Frequent9
HP:0000400HP:0000400Macrotia0PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 2HP:0040283 - Occasional2
HP:0000400HP:0000400Macrotia0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional2
HP:0000400HP:0000400Macrotia0PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome28
HP:0000400HP:0000400Macrotia0PQBP1 CL E G H100849330ORPHA:93945X-linked intellectual disability, Porteous typeHP:0040282 - Frequent28
HP:0000400HP:0000400Macrotia0PQBP1 CL E G H100849330ORPHA:93950X-linked intellectual disability, Sutherland-Haan typeHP:0040283 - Occasional28
HP:0000400HP:0000400Macrotia0PRDX1 CL E G H50529352OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.
HP:0000400HP:0000400Macrotia0PRUNE1 CL E G H5849713420OMIM:617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies.8
HP:0000400HP:0000400Macrotia0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms.20
HP:0000400HP:0000400Macrotia0PTCH1 CL E G H57279585OMIM:610828Holoprosencephaly 7665
HP:0000400HP:0000400Macrotia0PTDSS1 CL E G H97919587OMIM:151050Lenz-Majewski hyperostotic dwarfism6
HP:0000400HP:0000400Macrotia0PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfismHP:0040281 - Very frequent6
HP:0000400HP:0000400Macrotia0PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndromeHP:0040283 - Occasional948
HP:0000400HP:0000400Macrotia0PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040282 - Frequent948
HP:0000400HP:0000400Macrotia0PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathyHP:0040283 - Occasional11
HP:0000400HP:0000400Macrotia0QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0000400HP:0000400Macrotia0RAB18 CL E G H2293114244ORPHA:2510Micro syndromeHP:0040282 - Frequent85
HP:0000400HP:0000400Macrotia0RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 3.85
HP:0000400HP:0000400Macrotia0RAB3GAP1 CL E G H2293017063OMIM:619420MARTSOLF SYNDROME 2; MARTS290
HP:0000400HP:0000400Macrotia0RAB3GAP1 CL E G H2293017063ORPHA:2510Micro syndromeHP:0040282 - Frequent90
HP:0000400HP:0000400Macrotia0RAB3GAP1 CL E G H2293017063OMIM:600118Warburg micro syndrome 1.90
HP:0000400HP:0000400Macrotia0RAB3GAP2 CL E G H2578217168ORPHA:2510Micro syndromeHP:0040282 - Frequent135
HP:0000400HP:0000400Macrotia0RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2.135
HP:0000400HP:0000400Macrotia0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional25
HP:0000400HP:0000400Macrotia0RBMX CL E G H273169910OMIM:300238MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS112
HP:0000400HP:0000400Macrotia0RDH11 CL E G H5110917964ORPHA:436245Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndromeHP:0040283 - Occasional2
HP:0000400HP:0000400Macrotia0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000400HP:0000400Macrotia0RHOBTB2 CL E G H2322118756OMIM:618004Epileptic encephalopathy, early infantile, 64.1
HP:0000400HP:0000400Macrotia0RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040283 - Occasional37
HP:0000400HP:0000400Macrotia0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040282 - Frequent10
HP:0000400HP:0000400Macrotia0SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1.124
HP:0000400HP:0000400Macrotia0SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 58.1
HP:0000400HP:0000400Macrotia0SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.3HP:0040281 - Very frequent53
HP:0000400HP:0000400Macrotia0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0000400HP:0000400Macrotia0SHOC2 CL E G H803615454ORPHA:2701Noonan syndrome-like disorder with loose anagen hairHP:0040282 - Frequent74
HP:0000400HP:0000400Macrotia0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome.9
HP:0000400HP:0000400Macrotia0SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy.163
HP:0000400HP:0000400Macrotia0SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome.57
HP:0000400HP:0000400Macrotia0SLC2A1 CL E G H651311005ORPHA:168577Hereditary cryohydrocytosis with reduced stomatinHP:0040283 - Occasional255
HP:0000400HP:0000400Macrotia0SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndromeHP:0040282 - Frequent178
HP:0000400HP:0000400Macrotia0SLC6A17 CL E G H38866231399OMIM:616269Mental retardation, autosomal recessive 48.12
HP:0000400HP:0000400Macrotia0SLC6A17 CL E G H38866231399ORPHA:457212Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndromeHP:0040282 - Frequent12
HP:0000400HP:0000400Macrotia0SLC9A6 CL E G H1047911079ORPHA:85278Christianson syndromeHP:0040281 - Very frequent93
HP:0000400HP:0000400Macrotia0SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type.93
HP:0000400HP:0000400Macrotia0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0000400HP:0000400Macrotia0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional135
HP:0000400HP:0000400Macrotia0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional91
HP:0000400HP:0000400Macrotia0SMG8 CL E G H5518125551OMIM:619268ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000400HP:0000400Macrotia0SNAP29 CL E G H934211133ORPHA:66631CEDNIK syndromeHP:0040283 - Occasional94
HP:0000400HP:0000400Macrotia0SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0000400HP:0000400Macrotia0SSR4 CL E G H674811326OMIM:300934Congenital disorder of glycosylation, type Iy12
HP:0000400HP:0000400Macrotia0SSR4 CL E G H674811326ORPHA:370927SSR4-CDGHP:0040281 - Very frequent12
HP:0000400HP:0000400Macrotia0STEEP1 CL E G H6393226239OMIM:301013MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000400HP:0000400Macrotia0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000400HP:0000400Macrotia0SUOX CL E G H682111460OMIM:272300SULFOCYSTEINURIA40
HP:0000400HP:0000400Macrotia0SUZ12 CL E G H2351217101ORPHA:3447Weaver syndromeHP:0040281 - Very frequent1
HP:0000400HP:0000400Macrotia0SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0000400HP:0000400Macrotia0SYNGAP1 CL E G H883111497ORPHA:544254SYNGAP1-related developmental and epileptic encephalopathyHP:0040283 - Occasional108
HP:0000400HP:0000400Macrotia0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0000400HP:0000400Macrotia0TAFAZZIN CL E G H690111577OMIM:302060Barth syndrome.
HP:0000400HP:0000400Macrotia0TAPT1 CL E G H20201826887OMIM:616897Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type2
HP:0000400HP:0000400Macrotia0TBC1D20 CL E G H12863716133ORPHA:2510Micro syndromeHP:0040282 - Frequent15
HP:0000400HP:0000400Macrotia0TBC1D23 CL E G H5577325622OMIM:617695Pontocerebellar hypoplasia, type 11.
HP:0000400HP:0000400Macrotia0TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeHP:0040284 - Very rare16
HP:0000400HP:0000400Macrotia0TBL1XR1 CL E G H7971829529OMIM:602342Pierpont syndrome22
HP:0000400HP:0000400Macrotia0TBL1XR1 CL E G H7971829529ORPHA:487825Pierpont syndromeHP:0040283 - Occasional22
HP:0000400HP:0000400Macrotia0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000400HP:0000400Macrotia0TBX22 CL E G H5094511600ORPHA:921Abruzzo-Erickson syndromeHP:0040281 - Very frequent28
HP:0000400HP:0000400Macrotia0TBX22 CL E G H5094511600OMIM:302905Charge-Like syndrome, X-linked.28
HP:0000400HP:0000400Macrotia0TENM3 CL E G H5571429944OMIM:615145Microphthalmia, isolated, with coloboma 9.12
HP:0000400HP:0000400Macrotia0THOC2 CL E G H5718719073ORPHA:457240X-linked intellectual disability-short stature-overweight syndromeHP:0040283 - Occasional5
HP:0000400HP:0000400Macrotia0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000400HP:0000400Macrotia0TNPO2 CL E G H3000019998OMIM:619556INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000400HP:0000400Macrotia0TOE1 CL E G H11403415954ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040282 - Frequent6
HP:0000400HP:0000400Macrotia0TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 7.6
HP:0000400HP:0000400Macrotia0TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0000400HP:0000400Macrotia0TP53RK CL E G H11285816197ORPHA:2065Galloway-Mowat syndromeHP:0040282 - Frequent
HP:0000400HP:0000400Macrotia0TP53RK CL E G H11285816197OMIM:617730Galloway-Mowat syndrome 4.
HP:0000400HP:0000400Macrotia0TPRKB CL E G H5100224259ORPHA:2065Galloway-Mowat syndromeHP:0040282 - Frequent
HP:0000400HP:0000400Macrotia0TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome158
HP:0000400HP:0000400Macrotia0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 44.8
HP:0000400HP:0000400Macrotia0TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional7
HP:0000400HP:0000400Macrotia0TRPS1 CL E G H722712340ORPHA:77258Trichorhinophalangeal syndrome type 1 and 3HP:0040281 - Very frequent171
HP:0000400HP:0000400Macrotia0TRPS1 CL E G H722712340OMIM:190350Trichorhinophalangeal syndrome, type I.171
HP:0000400HP:0000400Macrotia0TTI2 CL E G H8018526262OMIM:615541Mental retardation, autosomal recessive 39.11
HP:0000400HP:0000400Macrotia0TTI2 CL E G H8018526262ORPHA:391307Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndromeHP:0040283 - Occasional11
HP:0000400HP:0000400Macrotia0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040283 - Occasional7
HP:0000400HP:0000400Macrotia0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000400HP:0000400Macrotia0WDR4 CL E G H1078512756ORPHA:2065Galloway-Mowat syndromeHP:0040282 - Frequent
HP:0000400HP:0000400Macrotia0WDR73 CL E G H8494225928ORPHA:2065Galloway-Mowat syndromeHP:0040282 - Frequent14
HP:0000400HP:0000400Macrotia0WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 1.14
HP:0000400HP:0000400Macrotia0YME1L1 CL E G H1073012843OMIM:617302Optic atrophy 11.2
HP:0000400HP:0000400Macrotia0ZBTB20 CL E G H2613713503ORPHA:3042Intellectual disability-cataracts-calcified pinnae-myopathy syndromeHP:0040281 - Very frequent17
HP:0000400HP:0000400Macrotia0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0000400HP:0000400Macrotia0ZIC2 CL E G H754612873OMIM:609637Holoprosencephaly 534
HP:0000400HP:0000400Macrotia0ZNF526 CL E G H11611529415OMIM:61987724
HP:0000400HP:0000400Macrotia0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0000400HP:0000400Macrotia0ZNF711 CL E G H755213128OMIM:300803MENTAL RETARDATION, X-LINKED 97; MRX9734
HP:0000400HP:0000400Macrotia0ZNHIT3 CL E G H932612309ORPHA:2836PEHO syndromeHP:0040281 - Very frequent1
HP:0000400HP:0002265Large fleshy ears1ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0000400HP:0002265Large fleshy ears1ALG9 CL E G H7979615672OMIM:263210Gillessen-Kaesbach-Nishimura syndrome93
HP:0000400HP:0002265Large fleshy ears1ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndromeHP:0040282 - Frequent5
HP:0000400HP:0002265Large fleshy ears1COLEC10 CL E G H105842220ORPHA:2938433MC syndromeHP:0040282 - Frequent3
HP:0000400HP:0002265Large fleshy ears1COLEC11 CL E G H7898917213ORPHA:2938433MC syndromeHP:0040282 - Frequent9
HP:0000400HP:0002265Large fleshy ears1KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndromeHP:0040282 - Frequent13
HP:0000400HP:0002265Large fleshy ears1KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndromeHP:0040282 - Frequent7
HP:0000400HP:0002265Large fleshy ears1MASP1 CL E G H56486901ORPHA:2938433MC syndromeHP:0040282 - Frequent21
HP:0000400HP:0002265Large fleshy ears1NARS1 CL E G H46777643OMIM:619092NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0000400HP:0002265Large fleshy ears1PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0000400HP:0002265Large fleshy ears1PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 1.37
HP:0000400HP:0002265Large fleshy ears1TAPT1 CL E G H20201826887OMIM:616897Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type.2
HP:0000400HP:0002265Large fleshy ears1TBL1XR1 CL E G H7971829529OMIM:602342Pierpont syndrome22
HP:0000400HP:0002265Large fleshy ears1TNPO2 CL E G H3000019998OMIM:619556INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000400HP:0002265Large fleshy ears1TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndromeHP:0040281 - Very frequent158


Genes (235) :ADAMTSL1 ADAT3 AEBP1 AGPAT2 AHSG AIP AKT1 ALDH18A1 ALG3 ALG9 ALKBH8 ANKRD11 AP1S2 AP3D1 ASNS ATP6V1A ATP6V1B2 BAZ1B BCL7B BMP4 BRAF BRD4 BRWD3 BSCL2 BUD23 CA2 CASK CBL CENPE CEP120 CHRNA1 CHRNA7 CHST14 CIT CLCN3 CLIC2 CLIP2 COLEC10 COLEC11 CPE CTU2 CWC27 DDB1 DENND5A DNAJC30 DPF2 DPYSL5 DSE DYRK1A EED EIF2S3 EIF4H ELN ERCC1 ERCC2 ERCC4 ERCC6 ERCC8 EYA1 EZH2 FAR1 FDFT1 FGFR2 FIBP FKBP6 FLNA FMR1 FTSJ1 GLB1 GLI2 GNB2 GON7 GPR101 GRIA3 GRIA4 GTF2I GTF2IRD1 GTF2IRD2 HDAC4 HDAC8 HECW2 HERC1 HHAT IDH1 INSR IPO8 IQSEC2 ITGA3 ITGB6 JAG1 KANSL1 KATNB1 KCNH1 KCNJ1 KCNN3 KDM4B KDM5C KDM6A KDM6B KIF1A KIFBP KMT2D KRAS LAGE3 LIMK1 LMBRD2 LSS MAN1B1 MAN2B1 MAP2K1 MAP2K2 MASP1 MBTPS1 MBTPS2 MECP2 MED13L METTL27 METTL5 MGAT2 MGP MID2 MINPP1 MLXIPL MMACHC MPLKIP NAA10 NALCN NARS1 NBN NCF1 NDE1 NDP NECTIN1 NEXMIF NHS NIPBL NSD1 NUP107 NUP133 ODC1 OPHN1 OSGEP OTUD6B PACS1 PAK3 PAX1 PCLO PGAP1 PHF6 PHGDH PHIP PIEZO2 PIGN PIK3R1 PLCH1 PMM2 POLR1A PPP1CB PPP1R15B PQBP1 PRDX1 PRUNE1 PSMB8 PTCH1 PTDSS1 PTEN PYCR2 QRICH1 RAB18 RAB3GAP1 RAB3GAP2 RAD21 RBMX RDH11 RFC2 RHOBTB2 RMRP RPL10 SALL1 SET SHANK3 SHOC2 SIN3A SLC12A6 SLC16A2 SLC2A1 SLC2A10 SLC6A17 SLC9A6 SMARCA2 SMC1A SMC3 SMG8 SNAP29 SOX6 SSR4 STEEP1 STX1A SUOX SUZ12 SYNE1 SYNGAP1 TAF1 TAFAZZIN TAPT1 TBC1D20 TBC1D23 TBCD TBL1XR1 TBL2 TBX22 TENM3 THOC2 TMEM270 TNPO2 TOE1 TOR1A TP53RK TPRKB TRAPPC9 TRIO TRMT10A TRPS1 TTI2 UBE2A VPS37D WDR4 WDR73 YME1L1 ZBTB20 ZIC2 ZNF526 ZNF699 ZNF711 ZNHIT3

Diseases (228) :ORPHA:521445 ORPHA:363528 ORPHA:536532 OMIM:618000 OMIM:608594 ORPHA:2850 ORPHA:963 ORPHA:744 OMIM:219150 OMIM:601110 ORPHA:79328 OMIM:263210 OMIM:618504 OMIM:148050 ORPHA:2332 ORPHA:85335 OMIM:617050 OMIM:615574 OMIM:617403 ORPHA:3473 ORPHA:904 OMIM:607932 ORPHA:1340 ORPHA:199 OMIM:300659 OMIM:269700 ORPHA:2785 OMIM:300749 ORPHA:163937 OMIM:613563 OMIM:616051 OMIM:616300 OMIM:608930 ORPHA:199318 ORPHA:2953 OMIM:617090 OMIM:619512 OMIM:300886 ORPHA:324410 ORPHA:293843 OMIM:619326 OMIM:618142 ORPHA:166035 OMIM:250410 OMIM:619426 OMIM:617281 OMIM:618027 OMIM:619435 OMIM:614104 OMIM:617561 ORPHA:3447 OMIM:300148 ORPHA:90322 OMIM:601675 ORPHA:90321 ORPHA:90324 ORPHA:2792 OMIM:277590 ORPHA:438178 OMIM:616154 OMIM:618156 ORPHA:1555 ORPHA:500095 OMIM:617107 OMIM:309350 OMIM:300624 ORPHA:449291 OMIM:309549 ORPHA:79255 OMIM:610829 OMIM:619503 OMIM:619603 ORPHA:364028 OMIM:617864 OMIM:619797 OMIM:617268 OMIM:617011 ORPHA:457359 ORPHA:1422 ORPHA:99646 OMIM:246200 ORPHA:769 OMIM:619472 ORPHA:397933 OMIM:614748 OMIM:118450 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:616212 ORPHA:420561 OMIM:241200 OMIM:619320 OMIM:300534 ORPHA:2322 OMIM:147920 OMIM:300867 OMIM:618505 ORPHA:2836 ORPHA:66629 ORPHA:2065 OMIM:619694 ORPHA:397941 OMIM:614202 OMIM:248500 OMIM:618392 ORPHA:2273 OMIM:300260 OMIM:300055 ORPHA:369891 OMIM:616789 OMIM:618665 OMIM:212066 OMIM:245150 OMIM:300928 ORPHA:284339 OMIM:277400 OMIM:234050 OMIM:300855 ORPHA:276432 OMIM:615419 OMIM:619092 OMIM:251260 ORPHA:647 OMIM:605013 ORPHA:649 ORPHA:3253 OMIM:300912 OMIM:302350 OMIM:117550 ORPHA:544488 OMIM:300486 ORPHA:505237 OMIM:617452 ORPHA:329224 OMIM:615009 OMIM:300558 OMIM:608027 OMIM:615802 OMIM:301900 OMIM:256520 OMIM:617991 ORPHA:589905 ORPHA:1154 ORPHA:280633 OMIM:614080 OMIM:269880 OMIM:619895 OMIM:212065 ORPHA:79318 OMIM:616462 ORPHA:2701 OMIM:616817 ORPHA:391408 OMIM:309500 ORPHA:93945 ORPHA:93950 OMIM:617481 OMIM:256040 OMIM:610828 OMIM:151050 ORPHA:2658 ORPHA:109 ORPHA:481152 OMIM:617982 ORPHA:2510 OMIM:614222 OMIM:619420 OMIM:600118 OMIM:614225 OMIM:300238 ORPHA:436245 OMIM:618004 ORPHA:175 ORPHA:459070 OMIM:107480 OMIM:618106 ORPHA:48652 OMIM:606232 OMIM:613406 OMIM:218000 OMIM:300523 ORPHA:168577 ORPHA:3342 OMIM:616269 ORPHA:457212 ORPHA:85278 OMIM:300243 OMIM:601358 OMIM:619268 ORPHA:66631 OMIM:618971 OMIM:300934 ORPHA:370927 OMIM:301013 OMIM:272300 ORPHA:319332 ORPHA:544254 OMIM:300966 OMIM:302060 OMIM:616897 OMIM:617695 ORPHA:496641 OMIM:602342 ORPHA:487825 ORPHA:921 OMIM:302905 OMIM:615145 ORPHA:457240 OMIM:619556 OMIM:614969 OMIM:618947 OMIM:617730 ORPHA:352530 OMIM:617061 ORPHA:77258 OMIM:190350 OMIM:615541 ORPHA:391307 ORPHA:163956 OMIM:251300 OMIM:617302 ORPHA:3042 OMIM:259050 OMIM:609637 OMIM:619877 OMIM:619488 OMIM:300803
 

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