Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal location of ears (HP:0000357)help
Parent Node:
expand
Low-set ears (HP:0000369)help
Parent Node:
expand
Posteriorly rotated ears (HP:0000358)help
..Starting node
..expand
Low-set, posteriorly rotated ears (HP:0000368)help
Term ID: 368
Name: Low-set, posteriorly rotated ears
Synonym: Low-set posteriorly rotated ears
Definition: Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358).
Comments:
Reference: HP:0000368
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000368HP:0000368Low-set, posteriorly rotated ears0ACAN CL E G H176319ORPHA:171866Spondyloepimetaphyseal dysplasia, aggrecan typeHP:0040281 - Very frequent34
HP:0000368HP:0000368Low-set, posteriorly rotated ears0ACAN CL E G H176319OMIM:612813Spondyloepimetaphyseal dysplasia, Aggrecan type.34
HP:0000368HP:0000368Low-set, posteriorly rotated ears0ACTG2 CL E G H72145ORPHA:2604Familial visceral myopathyHP:0040283 - Occasional23
HP:0000368HP:0000368Low-set, posteriorly rotated ears0ADNP CL E G H2339415766OMIM:615873Helsmoortel-van der Aa syndrome47
HP:0000368HP:0000368Low-set, posteriorly rotated ears0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0000368HP:0000368Low-set, posteriorly rotated ears0AHI1 CL E G H5480621575ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional175
HP:0000368HP:0000368Low-set, posteriorly rotated ears0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0000368HP:0000368Low-set, posteriorly rotated ears0ALX1 CL E G H80921494OMIM:613456Frontonasal dysplasia 3.5
HP:0000368HP:0000368Low-set, posteriorly rotated ears0ALX1 CL E G H80921494ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndromeHP:0040282 - Frequent5
HP:0000368HP:0000368Low-set, posteriorly rotated ears0ALX3 CL E G H257449ORPHA:391474FrontorhinyHP:0040282 - Frequent9
HP:0000368HP:0000368Low-set, posteriorly rotated ears0ARID1B CL E G H5749218040ORPHA:2510566q25 microdeletion syndromeHP:0040282 - Frequent219
HP:0000368HP:0000368Low-set, posteriorly rotated ears0ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 625
HP:0000368HP:0000368Low-set, posteriorly rotated ears0ARL6 CL E G H8410013210ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional29
HP:0000368HP:0000368Low-set, posteriorly rotated ears0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040283 - Occasional145
HP:0000368HP:0000368Low-set, posteriorly rotated ears0B3GALT6 CL E G H12679217978ORPHA:2725Eye defects-arachnodactyly-cardiopathy syndromeHP:0040281 - Very frequent38
HP:0000368HP:0000368Low-set, posteriorly rotated ears0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040283 - Occasional36
HP:0000368HP:0000368Low-set, posteriorly rotated ears0B9D1 CL E G H2707724123ORPHA:564Meckel syndromeHP:0040282 - Frequent28
HP:0000368HP:0000368Low-set, posteriorly rotated ears0B9D2 CL E G H8077628636ORPHA:564Meckel syndromeHP:0040282 - Frequent34
HP:0000368HP:0000368Low-set, posteriorly rotated ears0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000368HP:0000368Low-set, posteriorly rotated ears0BBIP1 CL E G H9248228093ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional1
HP:0000368HP:0000368Low-set, posteriorly rotated ears0BBS1 CL E G H582966ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional114
HP:0000368HP:0000368Low-set, posteriorly rotated ears0BBS10 CL E G H7973826291ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional118
HP:0000368HP:0000368Low-set, posteriorly rotated ears0BBS12 CL E G H16637926648ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional71
HP:0000368HP:0000368Low-set, posteriorly rotated ears0BBS2 CL E G H583967ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional97
HP:0000368HP:0000368Low-set, posteriorly rotated ears0BBS4 CL E G H585969ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional87
HP:0000368HP:0000368Low-set, posteriorly rotated ears0BBS5 CL E G H129880970ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional25
HP:0000368HP:0000368Low-set, posteriorly rotated ears0BBS7 CL E G H5521218758ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional66
HP:0000368HP:0000368Low-set, posteriorly rotated ears0BBS9 CL E G H2724130000ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional119
HP:0000368HP:0000368Low-set, posteriorly rotated ears0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000368HP:0000368Low-set, posteriorly rotated ears0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent101
HP:0000368HP:0000368Low-set, posteriorly rotated ears0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent276
HP:0000368HP:0000368Low-set, posteriorly rotated ears0BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentiginesHP:0040282 - Frequent276
HP:0000368HP:0000368Low-set, posteriorly rotated ears0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent
HP:0000368HP:0000368Low-set, posteriorly rotated ears0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional5
HP:0000368HP:0000368Low-set, posteriorly rotated ears0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional76
HP:0000368HP:0000368Low-set, posteriorly rotated ears0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional
HP:0000368HP:0000368Low-set, posteriorly rotated ears0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000368HP:0000368Low-set, posteriorly rotated ears0C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 14HP:0040282 - Frequent27
HP:0000368HP:0000368Low-set, posteriorly rotated ears0CAMKMT CL E G H7982326276ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent1
HP:0000368HP:0000368Low-set, posteriorly rotated ears0CANT1 CL E G H12458319721ORPHA:1425Desbuquois syndromeHP:0040282 - Frequent85
HP:0000368HP:0000368Low-set, posteriorly rotated ears0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent3
HP:0000368HP:0000368Low-set, posteriorly rotated ears0CBL CL E G H8671541ORPHA:648Noonan syndromeHP:0040281 - Very frequent317
HP:0000368HP:0000368Low-set, posteriorly rotated ears0CC2D2A CL E G H5754529253ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent247
HP:0000368HP:0000368Low-set, posteriorly rotated ears0CC2D2A CL E G H5754529253ORPHA:564Meckel syndromeHP:0040282 - Frequent247
HP:0000368HP:0000368Low-set, posteriorly rotated ears0CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040281 - Very frequent83
HP:0000368HP:0000368Low-set, posteriorly rotated ears0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0000368HP:0000368Low-set, posteriorly rotated ears0CEP120 CL E G H15324126690ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional7
HP:0000368HP:0000368Low-set, posteriorly rotated ears0CEP19 CL E G H8498428209ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional1
HP:0000368HP:0000368Low-set, posteriorly rotated ears0CEP290 CL E G H8018429021ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional342
HP:0000368HP:0000368Low-set, posteriorly rotated ears0CEP290 CL E G H8018429021ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent342
HP:0000368HP:0000368Low-set, posteriorly rotated ears0CEP290 CL E G H8018429021ORPHA:564Meckel syndromeHP:0040282 - Frequent342
HP:0000368HP:0000368Low-set, posteriorly rotated ears0CEP41 CL E G H9568112370ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional90
HP:0000368HP:0000368Low-set, posteriorly rotated ears0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional17
HP:0000368HP:0000368Low-set, posteriorly rotated ears0CFAP418 CL E G H15765727232ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional
HP:0000368HP:0000368Low-set, posteriorly rotated ears0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040282 - Frequent515
HP:0000368HP:0000368Low-set, posteriorly rotated ears0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent27
HP:0000368HP:0000368Low-set, posteriorly rotated ears0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000368HP:0000368Low-set, posteriorly rotated ears0COG1 CL E G H93826545ORPHA:263508COG1-CDGHP:0040282 - Frequent52
HP:0000368HP:0000368Low-set, posteriorly rotated ears0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg.52
HP:0000368HP:0000368Low-set, posteriorly rotated ears0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0000368HP:0000368Low-set, posteriorly rotated ears0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent1
HP:0000368HP:0000368Low-set, posteriorly rotated ears0CSGALNACT1 CL E G H5579024290ORPHA:1425Desbuquois syndromeHP:0040282 - Frequent
HP:0000368HP:0000368Low-set, posteriorly rotated ears0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional57
HP:0000368HP:0000368Low-set, posteriorly rotated ears0CSPP1 CL E G H7984826193ORPHA:564Meckel syndromeHP:0040282 - Frequent57
HP:0000368HP:0000368Low-set, posteriorly rotated ears0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent2
HP:0000368HP:0000368Low-set, posteriorly rotated ears0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040283 - Occasional20
HP:0000368HP:0000368Low-set, posteriorly rotated ears0CTCF CL E G H1066413723OMIM:615502Mental retardation, autosomal dominant 2120
HP:0000368HP:0000368Low-set, posteriorly rotated ears0CTNND2 CL E G H15012516ORPHA:281Monosomy 5pHP:0040281 - Very frequent15
HP:0000368HP:0000368Low-set, posteriorly rotated ears0DHCR24 CL E G H17182859ORPHA:35107DesmosterolosisHP:0040282 - Frequent72
HP:0000368HP:0000368Low-set, posteriorly rotated ears0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040282 - Frequent159
HP:0000368HP:0000368Low-set, posteriorly rotated ears0DHODH CL E G H17232867ORPHA:246Postaxial acrofacial dysostosisHP:0040281 - Very frequent59
HP:0000368HP:0000368Low-set, posteriorly rotated ears0DLK1 CL E G H87882907ORPHA:254525Temple syndrome due to paternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0000368HP:0000368Low-set, posteriorly rotated ears0DLL3 CL E G H106832909ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional45
HP:0000368HP:0000368Low-set, posteriorly rotated ears0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000368HP:0000368Low-set, posteriorly rotated ears0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent13
HP:0000368HP:0000368Low-set, posteriorly rotated ears0EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndromeHP:0040282 - Frequent6
HP:0000368HP:0000368Low-set, posteriorly rotated ears0EED CL E G H87263188ORPHA:3447Weaver syndromeHP:0040281 - Very frequent4
HP:0000368HP:0000368Low-set, posteriorly rotated ears0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000368HP:0000368Low-set, posteriorly rotated ears0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040281 - Very frequent172
HP:0000368HP:0000368Low-set, posteriorly rotated ears0ERCC1 CL E G H20673433OMIM:610758Cerebrooculofacioskeletal syndrome 4.20
HP:0000368HP:0000368Low-set, posteriorly rotated ears0ERMARD CL E G H5578021056ORPHA:758576q terminal deletion syndromeHP:0040281 - Very frequent36
HP:0000368HP:0000368Low-set, posteriorly rotated ears0EXT1 CL E G H21313512ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040281 - Very frequent96
HP:0000368HP:0000368Low-set, posteriorly rotated ears0EZH2 CL E G H21463527ORPHA:3447Weaver syndromeHP:0040281 - Very frequent81
HP:0000368HP:0000368Low-set, posteriorly rotated ears0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0000368HP:0000368Low-set, posteriorly rotated ears0FDFT1 CL E G H22223629OMIM:618156SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000368HP:0000368Low-set, posteriorly rotated ears0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndromeHP:0040282 - Frequent62
HP:0000368HP:0000368Low-set, posteriorly rotated ears0FGFR1 CL E G H22603688ORPHA:2117Hartsfield syndromeHP:0040281 - Very frequent172
HP:0000368HP:0000368Low-set, posteriorly rotated ears0FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome.175
HP:0000368HP:0000368Low-set, posteriorly rotated ears0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000368HP:0000368Low-set, posteriorly rotated ears0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040282 - Frequent8
HP:0000368HP:0000368Low-set, posteriorly rotated ears0FRAS1 CL E G H8014419185ORPHA:2052Fraser syndromeHP:0040282 - Frequent353
HP:0000368HP:0000368Low-set, posteriorly rotated ears0FREM2 CL E G H34164025396ORPHA:2052Fraser syndromeHP:0040282 - Frequent263
HP:0000368HP:0000368Low-set, posteriorly rotated ears0FRMD4A CL E G H5569125491ORPHA:466688Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndromeHP:0040282 - Frequent1
HP:0000368HP:0000368Low-set, posteriorly rotated ears0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent10
HP:0000368HP:0000368Low-set, posteriorly rotated ears0GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000368HP:0000368Low-set, posteriorly rotated ears0GBA1 CL E G H26294177ORPHA:85212Fetal Gaucher diseaseHP:0040282 - Frequent
HP:0000368HP:0000368Low-set, posteriorly rotated ears0GLE1 CL E G H27334315ORPHA:1486Lethal congenital contracture syndrome type 1HP:0040282 - Frequent45
HP:0000368HP:0000368Low-set, posteriorly rotated ears0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040282 - Frequent270
HP:0000368HP:0000368Low-set, posteriorly rotated ears0GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndromeHP:0040282 - Frequent2
HP:0000368HP:0000368Low-set, posteriorly rotated ears0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent73
HP:0000368HP:0000368Low-set, posteriorly rotated ears0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent
HP:0000368HP:0000368Low-set, posteriorly rotated ears0GRIP1 CL E G H2342618708ORPHA:2052Fraser syndromeHP:0040282 - Frequent80
HP:0000368HP:0000368Low-set, posteriorly rotated ears0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000368HP:0000368Low-set, posteriorly rotated ears0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000368HP:0000368Low-set, posteriorly rotated ears0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000368HP:0000368Low-set, posteriorly rotated ears0HBA1 CL E G H30394823ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16HP:0040282 - Frequent200
HP:0000368HP:0000368Low-set, posteriorly rotated ears0HBA2 CL E G H30404824ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16HP:0040282 - Frequent88
HP:0000368HP:0000368Low-set, posteriorly rotated ears0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent37
HP:0000368HP:0000368Low-set, posteriorly rotated ears0HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndromeHP:0040282 - Frequent16
HP:0000368HP:0000368Low-set, posteriorly rotated ears0HES7 CL E G H8466715977ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional10
HP:0000368HP:0000368Low-set, posteriorly rotated ears0HOXD13 CL E G H32395136ORPHA:887VACTERL/VATER associationHP:0040283 - Occasional25
HP:0000368HP:0000368Low-set, posteriorly rotated ears0HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040283 - Occasional113
HP:0000368HP:0000368Low-set, posteriorly rotated ears0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent345
HP:0000368HP:0000368Low-set, posteriorly rotated ears0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040281 - Very frequent345
HP:0000368HP:0000368Low-set, posteriorly rotated ears0HYLS1 CL E G H21984426558ORPHA:2189HydrolethalusHP:0040282 - Frequent31
HP:0000368HP:0000368Low-set, posteriorly rotated ears0IFT172 CL E G H2616030391ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional48
HP:0000368HP:0000368Low-set, posteriorly rotated ears0IFT27 CL E G H1102018626ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional1
HP:0000368HP:0000368Low-set, posteriorly rotated ears0IFT74 CL E G H8017321424ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional3
HP:0000368HP:0000368Low-set, posteriorly rotated ears0INPP5E CL E G H5662321474ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional111
HP:0000368HP:0000368Low-set, posteriorly rotated ears0ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiencyHP:0040283 - Occasional3
HP:0000368HP:0000368Low-set, posteriorly rotated ears0KAT6A CL E G H799413013ORPHA:457193Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndromeHP:0040282 - Frequent34
HP:0000368HP:0000368Low-set, posteriorly rotated ears0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent1
HP:0000368HP:0000368Low-set, posteriorly rotated ears0KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional24
HP:0000368HP:0000368Low-set, posteriorly rotated ears0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent4
HP:0000368HP:0000368Low-set, posteriorly rotated ears0KIF7 CL E G H37465430497ORPHA:2189HydrolethalusHP:0040282 - Frequent167
HP:0000368HP:0000368Low-set, posteriorly rotated ears0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent167
HP:0000368HP:0000368Low-set, posteriorly rotated ears0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent196
HP:0000368HP:0000368Low-set, posteriorly rotated ears0KRAS CL E G H38456407ORPHA:648Noonan syndromeHP:0040281 - Very frequent196
HP:0000368HP:0000368Low-set, posteriorly rotated ears0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent2
HP:0000368HP:0000368Low-set, posteriorly rotated ears0LFNG CL E G H39556560ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional13
HP:0000368HP:0000368Low-set, posteriorly rotated ears0LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040282 - Frequent88
HP:0000368HP:0000368Low-set, posteriorly rotated ears0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000368HP:0000368Low-set, posteriorly rotated ears0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0000368HP:0000368Low-set, posteriorly rotated ears0LZTFL1 CL E G H545856741ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional4
HP:0000368HP:0000368Low-set, posteriorly rotated ears0LZTR1 CL E G H82166742ORPHA:648Noonan syndromeHP:0040281 - Very frequent43
HP:0000368HP:0000368Low-set, posteriorly rotated ears0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent134
HP:0000368HP:0000368Low-set, posteriorly rotated ears0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent178
HP:0000368HP:0000368Low-set, posteriorly rotated ears0MAP2K2 CL E G H56056842ORPHA:638Neurofibromatosis-Noonan syndromeHP:0040281 - Very frequent178
HP:0000368HP:0000368Low-set, posteriorly rotated ears0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0000368HP:0000368Low-set, posteriorly rotated ears0MAPRE2 CL E G H109826891ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040283 - Occasional4
HP:0000368HP:0000368Low-set, posteriorly rotated ears0MEG3 CL E G H5538414575ORPHA:254525Temple syndrome due to paternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0000368HP:0000368Low-set, posteriorly rotated ears0MESP2 CL E G H14587329659ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional45
HP:0000368HP:0000368Low-set, posteriorly rotated ears0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000368HP:0000368Low-set, posteriorly rotated ears0METTL5 CL E G H2908125006OMIM:618665INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000368HP:0000368Low-set, posteriorly rotated ears0MGAT2 CL E G H42477045ORPHA:79329MGAT2-CDGHP:0040283 - Occasional39
HP:0000368HP:0000368Low-set, posteriorly rotated ears0MKKS CL E G H81957108ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional69
HP:0000368HP:0000368Low-set, posteriorly rotated ears0MKS1 CL E G H549037121ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional127
HP:0000368HP:0000368Low-set, posteriorly rotated ears0MKS1 CL E G H549037121ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional127
HP:0000368HP:0000368Low-set, posteriorly rotated ears0MKS1 CL E G H549037121ORPHA:564Meckel syndromeHP:0040282 - Frequent127
HP:0000368HP:0000368Low-set, posteriorly rotated ears0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000368HP:0000368Low-set, posteriorly rotated ears0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0000368HP:0000368Low-set, posteriorly rotated ears0MRAS CL E G H228087227ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0000368HP:0000368Low-set, posteriorly rotated ears0MRPS28 CL E G H2895714513OMIM:618958COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000368HP:0000368Low-set, posteriorly rotated ears0MVK CL E G H45987530ORPHA:29Mevalonic aciduriaHP:0040282 - Frequent150
HP:0000368HP:0000368Low-set, posteriorly rotated ears0MYH3 CL E G H46217573OMIM:178110Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A.166
HP:0000368HP:0000368Low-set, posteriorly rotated ears0NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent23
HP:0000368HP:0000368Low-set, posteriorly rotated ears0NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040282 - Frequent48
HP:0000368HP:0000368Low-set, posteriorly rotated ears0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040281 - Very frequent13
HP:0000368HP:0000368Low-set, posteriorly rotated ears0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent
HP:0000368HP:0000368Low-set, posteriorly rotated ears0NF1 CL E G H47637765ORPHA:638Neurofibromatosis-Noonan syndromeHP:0040281 - Very frequent1952
HP:0000368HP:0000368Low-set, posteriorly rotated ears0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent494
HP:0000368HP:0000368Low-set, posteriorly rotated ears0NPHP1 CL E G H48677905ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional85
HP:0000368HP:0000368Low-set, posteriorly rotated ears0NPHP1 CL E G H48677905ORPHA:220497Joubert syndrome with renal defectHP:0040282 - Frequent85
HP:0000368HP:0000368Low-set, posteriorly rotated ears0NRAS CL E G H48937989ORPHA:648Noonan syndromeHP:0040281 - Very frequent102
HP:0000368HP:0000368Low-set, posteriorly rotated ears0NSD1 CL E G H6432414234ORPHA:3447Weaver syndromeHP:0040281 - Very frequent544
HP:0000368HP:0000368Low-set, posteriorly rotated ears0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent118
HP:0000368HP:0000368Low-set, posteriorly rotated ears0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040282 - Frequent84
HP:0000368HP:0000368Low-set, posteriorly rotated ears0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040282 - Frequent2
HP:0000368HP:0000368Low-set, posteriorly rotated ears0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040282 - Frequent88
HP:0000368HP:0000368Low-set, posteriorly rotated ears0OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent201
HP:0000368HP:0000368Low-set, posteriorly rotated ears0OTX2 CL E G H50158522ORPHA:990Agnathia-holoprosencephaly-situs inversus syndromeHP:0040281 - Very frequent41
HP:0000368HP:0000368Low-set, posteriorly rotated ears0PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent1
HP:0000368HP:0000368Low-set, posteriorly rotated ears0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0000368HP:0000368Low-set, posteriorly rotated ears0PEX1 CL E G H51898850ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent169
HP:0000368HP:0000368Low-set, posteriorly rotated ears0PEX10 CL E G H51928851ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent75
HP:0000368HP:0000368Low-set, posteriorly rotated ears0PEX11B CL E G H87998853ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent4
HP:0000368HP:0000368Low-set, posteriorly rotated ears0PEX12 CL E G H51938854ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent65
HP:0000368HP:0000368Low-set, posteriorly rotated ears0PEX13 CL E G H51948855ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent66
HP:0000368HP:0000368Low-set, posteriorly rotated ears0PEX14 CL E G H51958856ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent46
HP:0000368HP:0000368Low-set, posteriorly rotated ears0PEX16 CL E G H94098857ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent59
HP:0000368HP:0000368Low-set, posteriorly rotated ears0PEX19 CL E G H58249713ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent62
HP:0000368HP:0000368Low-set, posteriorly rotated ears0PEX2 CL E G H58289717ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent82
HP:0000368HP:0000368Low-set, posteriorly rotated ears0PEX26 CL E G H5567022965ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent106
HP:0000368HP:0000368Low-set, posteriorly rotated ears0PEX3 CL E G H85048858ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent47
HP:0000368HP:0000368Low-set, posteriorly rotated ears0PEX5 CL E G H58309719ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent99
HP:0000368HP:0000368Low-set, posteriorly rotated ears0PEX6 CL E G H51908859ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent98
HP:0000368HP:0000368Low-set, posteriorly rotated ears0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent7
HP:0000368HP:0000368Low-set, posteriorly rotated ears0PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040281 - Very frequent37
HP:0000368HP:0000368Low-set, posteriorly rotated ears0PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorderHP:0040282 - Frequent3
HP:0000368HP:0000368Low-set, posteriorly rotated ears0PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndromeHP:0040282 - Frequent82
HP:0000368HP:0000368Low-set, posteriorly rotated ears0PNPLA6 CL E G H1090816268ORPHA:2377Laurence-Moon syndromeHP:0040283 - Occasional103
HP:0000368HP:0000368Low-set, posteriorly rotated ears0PPM1B CL E G H54959276ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent
HP:0000368HP:0000368Low-set, posteriorly rotated ears0PPP1CB CL E G H55009282ORPHA:2701Noonan syndrome-like disorder with loose anagen hairHP:0040281 - Very frequent9
HP:0000368HP:0000368Low-set, posteriorly rotated ears0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent148
HP:0000368HP:0000368Low-set, posteriorly rotated ears0PREPL CL E G H958130228ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent7
HP:0000368HP:0000368Low-set, posteriorly rotated ears0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0000368HP:0000368Low-set, posteriorly rotated ears0PRRX1 CL E G H53969142ORPHA:990Agnathia-holoprosencephaly-situs inversus syndromeHP:0040281 - Very frequent4
HP:0000368HP:0000368Low-set, posteriorly rotated ears0PTPN11 CL E G H57819644ORPHA:648Noonan syndromeHP:0040281 - Very frequent291
HP:0000368HP:0000368Low-set, posteriorly rotated ears0PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentiginesHP:0040282 - Frequent291
HP:0000368HP:0000368Low-set, posteriorly rotated ears0RAB18 CL E G H2293114244ORPHA:2510Micro syndromeHP:0040282 - Frequent85
HP:0000368HP:0000368Low-set, posteriorly rotated ears0RAB3GAP1 CL E G H2293017063ORPHA:1387Cataract-intellectual disability-hypogonadism syndromeHP:0040282 - Frequent90
HP:0000368HP:0000368Low-set, posteriorly rotated ears0RAB3GAP1 CL E G H2293017063ORPHA:2510Micro syndromeHP:0040282 - Frequent90
HP:0000368HP:0000368Low-set, posteriorly rotated ears0RAB3GAP2 CL E G H2578217168ORPHA:1387Cataract-intellectual disability-hypogonadism syndromeHP:0040282 - Frequent135
HP:0000368HP:0000368Low-set, posteriorly rotated ears0RAB3GAP2 CL E G H2578217168ORPHA:2510Micro syndromeHP:0040282 - Frequent135
HP:0000368HP:0000368Low-set, posteriorly rotated ears0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent25
HP:0000368HP:0000368Low-set, posteriorly rotated ears0RAF1 CL E G H58949829ORPHA:648Noonan syndromeHP:0040281 - Very frequent212
HP:0000368HP:0000368Low-set, posteriorly rotated ears0RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentiginesHP:0040282 - Frequent212
HP:0000368HP:0000368Low-set, posteriorly rotated ears0RAI1 CL E G H107439834ORPHA:171317p11.2 microduplication syndromeHP:0040283 - Occasional150
HP:0000368HP:0000368Low-set, posteriorly rotated ears0RASA2 CL E G H59229872ORPHA:648Noonan syndromeHP:0040281 - Very frequent3
HP:0000368HP:0000368Low-set, posteriorly rotated ears0RBM10 CL E G H82419896ORPHA:2886TARP syndromeHP:0040283 - Occasional16
HP:0000368HP:0000368Low-set, posteriorly rotated ears0RBM8A CL E G H99399905ORPHA:3320Thrombocytopenia-absent radius syndromeHP:0040282 - Frequent10
HP:0000368HP:0000368Low-set, posteriorly rotated ears0RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome.445
HP:0000368HP:0000368Low-set, posteriorly rotated ears0RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent16
HP:0000368HP:0000368Low-set, posteriorly rotated ears0RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndromeHP:0040283 - Occasional16
HP:0000368HP:0000368Low-set, posteriorly rotated ears0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000368HP:0000368Low-set, posteriorly rotated ears0RIPPLY2 CL E G H13470121390ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional3
HP:0000368HP:0000368Low-set, posteriorly rotated ears0RIT1 CL E G H601610023ORPHA:648Noonan syndromeHP:0040281 - Very frequent39
HP:0000368HP:0000368Low-set, posteriorly rotated ears0RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040282 - Frequent37
HP:0000368HP:0000368Low-set, posteriorly rotated ears0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040282 - Frequent120
HP:0000368HP:0000368Low-set, posteriorly rotated ears0RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndromeHP:0040282 - Frequent109
HP:0000368HP:0000368Low-set, posteriorly rotated ears0RPGRIP1L CL E G H2332229168ORPHA:220497Joubert syndrome with renal defectHP:0040282 - Frequent167
HP:0000368HP:0000368Low-set, posteriorly rotated ears0RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndromeHP:0040282 - Frequent167
HP:0000368HP:0000368Low-set, posteriorly rotated ears0RRAS CL E G H623710447ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0000368HP:0000368Low-set, posteriorly rotated ears0RRAS2 CL E G H2280017271ORPHA:648Noonan syndromeHP:0040281 - Very frequent1
HP:0000368HP:0000368Low-set, posteriorly rotated ears0RTL1 CL E G H38801514665ORPHA:254525Temple syndrome due to paternal 14q32.2 microdeletionHP:0040283 - Occasional
HP:0000368HP:0000368Low-set, posteriorly rotated ears0RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040283 - Occasional113
HP:0000368HP:0000368Low-set, posteriorly rotated ears0SCAPER CL E G H4985513081ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional
HP:0000368HP:0000368Low-set, posteriorly rotated ears0SDCCAG8 CL E G H1080610671ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional61
HP:0000368HP:0000368Low-set, posteriorly rotated ears0SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040282 - Frequent16
HP:0000368HP:0000368Low-set, posteriorly rotated ears0SEMA5A CL E G H903710736ORPHA:281Monosomy 5pHP:0040281 - Very frequent6
HP:0000368HP:0000368Low-set, posteriorly rotated ears0SF3B4 CL E G H1026210771ORPHA:245Nager syndromeHP:0040283 - Occasional49
HP:0000368HP:0000368Low-set, posteriorly rotated ears0SHOC2 CL E G H803615454ORPHA:2701Noonan syndrome-like disorder with loose anagen hairHP:0040281 - Very frequent74
HP:0000368HP:0000368Low-set, posteriorly rotated ears0SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent150
HP:0000368HP:0000368Low-set, posteriorly rotated ears0SKI CL E G H649710896OMIM:182212Shprintzen-Goldberg craniosynostosis syndrome150
HP:0000368HP:0000368Low-set, posteriorly rotated ears0SLC25A24 CL E G H2995720662ORPHA:2963Progeroid syndrome, Petty typeHP:0040281 - Very frequent
HP:0000368HP:0000368Low-set, posteriorly rotated ears0SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasiaHP:0040282 - Frequent166
HP:0000368HP:0000368Low-set, posteriorly rotated ears0SLC3A1 CL E G H651911025ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent55
HP:0000368HP:0000368Low-set, posteriorly rotated ears0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent135
HP:0000368HP:0000368Low-set, posteriorly rotated ears0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent91
HP:0000368HP:0000368Low-set, posteriorly rotated ears0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040282 - Frequent15
HP:0000368HP:0000368Low-set, posteriorly rotated ears0SOD1 CL E G H664711179OMIM:618598SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP53
HP:0000368HP:0000368Low-set, posteriorly rotated ears0SOS1 CL E G H665411187ORPHA:648Noonan syndromeHP:0040281 - Very frequent315
HP:0000368HP:0000368Low-set, posteriorly rotated ears0SOS2 CL E G H665511188ORPHA:648Noonan syndromeHP:0040281 - Very frequent30
HP:0000368HP:0000368Low-set, posteriorly rotated ears0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent4
HP:0000368HP:0000368Low-set, posteriorly rotated ears0SPRED1 CL E G H16174220249OMIM:611431Legius syndrome.136
HP:0000368HP:0000368Low-set, posteriorly rotated ears0SPRED2 CL E G H20073417722ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0000368HP:0000368Low-set, posteriorly rotated ears0SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0000368HP:0000368Low-set, posteriorly rotated ears0SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesisHP:0040283 - Occasional23
HP:0000368HP:0000368Low-set, posteriorly rotated ears0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000368HP:0000368Low-set, posteriorly rotated ears0SUZ12 CL E G H2351217101ORPHA:3447Weaver syndromeHP:0040281 - Very frequent1
HP:0000368HP:0000368Low-set, posteriorly rotated ears0TBC1D20 CL E G H12863716133ORPHA:2510Micro syndromeHP:0040282 - Frequent15
HP:0000368HP:0000368Low-set, posteriorly rotated ears0TBCE CL E G H690511582ORPHA:2323Sanjad-Sakati syndromeHP:0040281 - Very frequent52
HP:0000368HP:0000368Low-set, posteriorly rotated ears0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000368HP:0000368Low-set, posteriorly rotated ears0TBR1 CL E G H1071611590ORPHA:16172q24 microdeletion syndromeHP:0040281 - Very frequent1
HP:0000368HP:0000368Low-set, posteriorly rotated ears0TCTN1 CL E G H7960026113ORPHA:564Meckel syndromeHP:0040282 - Frequent45
HP:0000368HP:0000368Low-set, posteriorly rotated ears0TCTN2 CL E G H7986725774ORPHA:564Meckel syndromeHP:0040282 - Frequent76
HP:0000368HP:0000368Low-set, posteriorly rotated ears0TCTN3 CL E G H2612324519ORPHA:564Meckel syndromeHP:0040282 - Frequent31
HP:0000368HP:0000368Low-set, posteriorly rotated ears0TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent31
HP:0000368HP:0000368Low-set, posteriorly rotated ears0TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndromeHP:0040281 - Very frequent12
HP:0000368HP:0000368Low-set, posteriorly rotated ears0TGDS CL E G H2348320324ORPHA:1388Catel-Manzke syndromeHP:0040282 - Frequent6
HP:0000368HP:0000368Low-set, posteriorly rotated ears0TMCO1 CL E G H5449918188ORPHA:1394Cerebrofaciothoracic dysplasiaHP:0040281 - Very frequent6
HP:0000368HP:0000368Low-set, posteriorly rotated ears0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome.6
HP:0000368HP:0000368Low-set, posteriorly rotated ears0TMEM107 CL E G H8431428128ORPHA:564Meckel syndromeHP:0040282 - Frequent4
HP:0000368HP:0000368Low-set, posteriorly rotated ears0TMEM138 CL E G H5152426944ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent39
HP:0000368HP:0000368Low-set, posteriorly rotated ears0TMEM216 CL E G H5125925018ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent45
HP:0000368HP:0000368Low-set, posteriorly rotated ears0TMEM216 CL E G H5125925018ORPHA:564Meckel syndromeHP:0040282 - Frequent45
HP:0000368HP:0000368Low-set, posteriorly rotated ears0TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent45
HP:0000368HP:0000368Low-set, posteriorly rotated ears0TMEM231 CL E G H7958337234ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent33
HP:0000368HP:0000368Low-set, posteriorly rotated ears0TMEM231 CL E G H7958337234ORPHA:564Meckel syndromeHP:0040282 - Frequent33
HP:0000368HP:0000368Low-set, posteriorly rotated ears0TMEM237 CL E G H6506214432ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent82
HP:0000368HP:0000368Low-set, posteriorly rotated ears0TMEM237 CL E G H6506214432ORPHA:220497Joubert syndrome with renal defectHP:0040282 - Frequent82
HP:0000368HP:0000368Low-set, posteriorly rotated ears0TMEM237 CL E G H6506214432ORPHA:564Meckel syndromeHP:0040282 - Frequent82
HP:0000368HP:0000368Low-set, posteriorly rotated ears0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000368HP:0000368Low-set, posteriorly rotated ears0TMEM67 CL E G H9114728396ORPHA:564Meckel syndromeHP:0040282 - Frequent166
HP:0000368HP:0000368Low-set, posteriorly rotated ears0TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent61
HP:0000368HP:0000368Low-set, posteriorly rotated ears0TRIM32 CL E G H2295416380ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional108
HP:0000368HP:0000368Low-set, posteriorly rotated ears0TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional2
HP:0000368HP:0000368Low-set, posteriorly rotated ears0TRPS1 CL E G H722712340ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040281 - Very frequent171
HP:0000368HP:0000368Low-set, posteriorly rotated ears0TRPV4 CL E G H5934118083ORPHA:2635Metatropic dysplasiaHP:0040283 - Occasional214
HP:0000368HP:0000368Low-set, posteriorly rotated ears0TTC8 CL E G H12301620087ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional41
HP:0000368HP:0000368Low-set, posteriorly rotated ears0TUBB CL E G H20306820778ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040283 - Occasional14
HP:0000368HP:0000368Low-set, posteriorly rotated ears0TXNDC15 CL E G H7977020652ORPHA:564Meckel syndromeHP:0040282 - Frequent2
HP:0000368HP:0000368Low-set, posteriorly rotated ears0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0000368HP:0000368Low-set, posteriorly rotated ears0UMPS CL E G H737212563ORPHA:30Hereditary orotic aciduriaHP:0040282 - Frequent135
HP:0000368HP:0000368Low-set, posteriorly rotated ears0UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040282 - Frequent23
HP:0000368HP:0000368Low-set, posteriorly rotated ears0USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityHP:0040283 - Occasional27
HP:0000368HP:0000368Low-set, posteriorly rotated ears0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000368HP:0000368Low-set, posteriorly rotated ears0WDPCP CL E G H5105728027ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional60
HP:0000368HP:0000368Low-set, posteriorly rotated ears0XYLT1 CL E G H6413115516ORPHA:1425Desbuquois syndromeHP:0040282 - Frequent14
HP:0000368HP:0000368Low-set, posteriorly rotated ears0ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0000368HP:0000368Low-set, posteriorly rotated ears0ZNF423 CL E G H2309016762ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent49


Genes (260) :ACAN ACTG2 ADNP AFF4 AHI1 ALG9 ALX1 ALX3 ARID1B ARID2 ARL6 ASXL1 B3GALT6 B3GLCT B9D1 B9D2 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BCOR BRAF BRD4 BUB1 BUB1B BUB3 BUD23 C2CD3 CAMKMT CANT1 CASZ1 CBL CC2D2A CD96 CDC42 CEP120 CEP19 CEP290 CEP41 CEP57 CFAP418 CHD7 CHST14 CLIP2 COG1 CPLANE1 CPLX1 CSGALNACT1 CSPP1 CTBP1 CTCF CTNND2 DHCR24 DHCR7 DHODH DLK1 DLL3 DNAJC30 DSE EDN1 EED EIF4H ELN ERCC1 ERMARD EXT1 EZH2 FAM149B1 FDFT1 FGD1 FGFR1 FGFR2 FKBP6 FLI1 FRAS1 FREM2 FRMD4A GABRD GALNT2 GBA1 GLE1 GLI3 GNAI3 GPC3 GPC4 GRIP1 GTF2I GTF2IRD1 GTF2IRD2 HBA1 HBA2 HDAC8 HERC1 HES7 HOXD13 HRAS HSPG2 HYLS1 IFT172 IFT27 IFT74 INPP5E ITCH KAT6A KCNAB2 KIAA0586 KIAA0753 KIF7 KRAS LETM1 LFNG LIG4 LIMK1 LUZP1 LZTFL1 LZTR1 MAP2K1 MAP2K2 MAPK1 MAPRE2 MEG3 MESP2 METTL27 METTL5 MGAT2 MKKS MKS1 MLXIPL MMP23B MRAS MRPS28 MVK MYH3 NAA10 NALCN NCF1 NELFA NF1 NIPBL NPHP1 NRAS NSD1 NSD2 NSUN2 NXN OCRL OFD1 OTX2 PDE6D PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIGG PIGN PLAA PLCB4 PNPLA6 PPM1B PPP1CB PRDM16 PREPL PRKCZ PRRX1 PTPN11 RAB18 RAB3GAP1 RAB3GAP2 RAD21 RAF1 RAI1 RASA2 RBM10 RBM8A RECQL4 RERE RFC2 RIPPLY2 RIT1 RMRP ROR2 RPGRIP1 RPGRIP1L RRAS RRAS2 RTL1 RTTN SCAPER SDCCAG8 SEMA3E SEMA5A SF3B4 SHOC2 SKI SLC25A24 SLC26A2 SLC3A1 SMC1A SMC3 SMOC1 SOD1 SOS1 SOS2 SPEN SPRED1 SPRED2 SRY STX1A SUZ12 TBC1D20 TBCE TBL2 TBR1 TCTN1 TCTN2 TCTN3 TFAP2A TGDS TMCO1 TMEM107 TMEM138 TMEM216 TMEM231 TMEM237 TMEM270 TMEM67 TOPORS TRIM32 TRIP13 TRPS1 TRPV4 TTC8 TUBB TXNDC15 UBE4B UMPS UNC80 USP9X VPS37D WDPCP XYLT1 ZC4H2 ZNF423

Diseases (118) :ORPHA:171866 OMIM:612813 ORPHA:2604 OMIM:615873 ORPHA:444077 ORPHA:220493 ORPHA:79328 OMIM:613456 ORPHA:306542 ORPHA:391474 ORPHA:251056 OMIM:617808 ORPHA:110 ORPHA:97297 ORPHA:2725 ORPHA:709 ORPHA:564 ORPHA:904 ORPHA:568 ORPHA:1340 ORPHA:500 ORPHA:199 ORPHA:1052 ORPHA:434179 ORPHA:163693 ORPHA:1425 ORPHA:1606 ORPHA:648 ORPHA:2318 ORPHA:1308 ORPHA:487796 ORPHA:138 ORPHA:2953 ORPHA:263508 OMIM:611209 ORPHA:2754 ORPHA:280 ORPHA:397715 ORPHA:363611 OMIM:615502 ORPHA:281 ORPHA:35107 ORPHA:818 ORPHA:246 ORPHA:254525 ORPHA:2311 ORPHA:137888 ORPHA:3447 OMIM:610758 ORPHA:75857 ORPHA:502 OMIM:618156 ORPHA:915 ORPHA:2117 OMIM:123790 ORPHA:2308 ORPHA:2052 ORPHA:466688 OMIM:618885 ORPHA:85212 ORPHA:1486 ORPHA:672 ORPHA:373 ORPHA:98791 ORPHA:457359 ORPHA:887 ORPHA:3071 ORPHA:800 ORPHA:2189 ORPHA:228426 ORPHA:457193 ORPHA:235 ORPHA:638 OMIM:619087 ORPHA:2505 OMIM:618665 ORPHA:79329 OMIM:618958 ORPHA:29 OMIM:178110 ORPHA:371364 ORPHA:220497 ORPHA:1507 ORPHA:534 ORPHA:990 ORPHA:44 ORPHA:2059 ORPHA:521426 ORPHA:2377 ORPHA:2701 ORPHA:2510 ORPHA:1387 ORPHA:1713 ORPHA:2886 ORPHA:3320 OMIM:218600 ORPHA:494344 ORPHA:175 ORPHA:468631 ORPHA:245 OMIM:182212 ORPHA:2963 ORPHA:628 ORPHA:1106 OMIM:618598 OMIM:611431 OMIM:619745 ORPHA:1772 ORPHA:2323 ORPHA:1617 ORPHA:1297 ORPHA:1388 ORPHA:1394 OMIM:213980 ORPHA:2635 ORPHA:30 ORPHA:480880 OMIM:301041
 

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