Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | ACAN CL E G H | 176 | 319 | OMIM:612813 | Spondyloepimetaphyseal dysplasia, Aggrecan type | . | | | 34 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | ACAN CL E G H | 176 | 319 | ORPHA:171866 | Spondyloepimetaphyseal dysplasia, aggrecan type | HP:0040281 - Very frequent | | | 34 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | ACTG2 CL E G H | 72 | 145 | ORPHA:2604 | Familial visceral myopathy | HP:0040283 - Occasional | | | 23 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | ADNP CL E G H | 23394 | 15766 | OMIM:615873 | Helsmoortel-van der Aa syndrome | | | | 47 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 175 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | HP:0040283 - Occasional | | | 93 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | ALX1 CL E G H | 8092 | 1494 | OMIM:613456 | Frontonasal dysplasia 3 | . | | | 5 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | ALX1 CL E G H | 8092 | 1494 | ORPHA:306542 | Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | ALX3 CL E G H | 257 | 449 | ORPHA:391474 | Frontorhiny | HP:0040282 - Frequent | | | 9 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | ARID1B CL E G H | 57492 | 18040 | ORPHA:251056 | 6q25 microdeletion syndrome | HP:0040282 - Frequent | | | 219 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | ARID2 CL E G H | 196528 | 18037 | OMIM:617808 | Coffin-siris syndrome 6 | | | | 25 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | ARL6 CL E G H | 84100 | 13210 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 29 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:2725 | Eye defects-arachnodactyly-cardiopathy syndrome | HP:0040281 - Very frequent | | | 38 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 28 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | BBIP1 CL E G H | 92482 | 28093 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | BBS1 CL E G H | 582 | 966 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 114 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | BBS10 CL E G H | 79738 | 26291 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 118 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | BBS12 CL E G H | 166379 | 26648 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 71 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | BBS2 CL E G H | 583 | 967 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 97 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | BBS4 CL E G H | 585 | 969 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | BBS5 CL E G H | 129880 | 970 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 25 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | BBS7 CL E G H | 55212 | 18758 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 66 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | BBS9 CL E G H | 27241 | 30000 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 119 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:568 | Microphthalmia, Lenz type | HP:0040282 - Frequent | | | 101 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 276 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040282 - Frequent | | | 276 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | BUB1 CL E G H | 699 | 1148 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | BUB1B CL E G H | 701 | 1149 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 76 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | BUB3 CL E G H | 9184 | 1151 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | HP:0040282 - Frequent | | | 27 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | CAMKMT CL E G H | 79823 | 26276 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | CANT1 CL E G H | 124583 | 19721 | ORPHA:1425 | Desbuquois syndrome | HP:0040282 - Frequent | | | 85 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | CBL CL E G H | 867 | 1541 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 317 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 247 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 247 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | HP:0040281 - Very frequent | | | 83 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | CDC42 CL E G H | 998 | 1736 | ORPHA:487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 7 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | CEP19 CL E G H | 84984 | 28209 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 342 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 342 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 342 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | CEP41 CL E G H | 95681 | 12370 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 90 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | CEP57 CL E G H | 9702 | 30794 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | HP:0040282 - Frequent | | | 515 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | CHST14 CL E G H | 113189 | 24464 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 27 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | HP:0040282 - Frequent | | | 52 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | COG1 CL E G H | 9382 | 6545 | OMIM:611209 | Congenital disorder of glycosylation, type IIg | . | | | 52 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | CSGALNACT1 CL E G H | 55790 | 24290 | ORPHA:1425 | Desbuquois syndrome | HP:0040282 - Frequent | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 57 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | HP:0040283 - Occasional | | | 20 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | CTCF CL E G H | 10664 | 13723 | OMIM:615502 | Mental retardation, autosomal dominant 21 | | | | 20 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | CTNND2 CL E G H | 1501 | 2516 | ORPHA:281 | Monosomy 5p | HP:0040281 - Very frequent | | | 15 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | DHCR24 CL E G H | 1718 | 2859 | ORPHA:35107 | Desmosterolosis | HP:0040282 - Frequent | | | 72 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040282 - Frequent | | | 159 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | DHODH CL E G H | 1723 | 2867 | ORPHA:246 | Postaxial acrofacial dysostosis | HP:0040281 - Very frequent | | | 59 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254525 | Temple syndrome due to paternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | 1 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | DLL3 CL E G H | 10683 | 2909 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 45 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | DSE CL E G H | 29940 | 21144 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | EDN1 CL E G H | 1906 | 3176 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | EED CL E G H | 8726 | 3188 | ORPHA:3447 | Weaver syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | ERCC1 CL E G H | 2067 | 3433 | OMIM:610758 | Cerebrooculofacioskeletal syndrome 4 | . | | | 20 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | ERMARD CL E G H | 55780 | 21056 | ORPHA:75857 | 6q terminal deletion syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | EXT1 CL E G H | 2131 | 3512 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | HP:0040281 - Very frequent | | | 96 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | EZH2 CL E G H | 2146 | 3527 | ORPHA:3447 | Weaver syndrome | HP:0040281 - Very frequent | | | 81 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | FAM149B1 CL E G H | 317662 | 29162 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | FDFT1 CL E G H | 2222 | 3629 | OMIM:618156 | SQUALENE SYNTHASE DEFICIENCY; SQSD | | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | FGD1 CL E G H | 2245 | 3663 | ORPHA:915 | Aarskog-Scott syndrome | HP:0040282 - Frequent | | | 62 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2117 | Hartsfield syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123790 | Beare-Stevenson cutis gyrata syndrome | . | | | 175 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | FRAS1 CL E G H | 80144 | 19185 | ORPHA:2052 | Fraser syndrome | HP:0040282 - Frequent | | | 353 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | FREM2 CL E G H | 341640 | 25396 | ORPHA:2052 | Fraser syndrome | HP:0040282 - Frequent | | | 263 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | FRMD4A CL E G H | 55691 | 25491 | ORPHA:466688 | Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | GALNT2 CL E G H | 2590 | 4124 | OMIM:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T | | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:85212 | Fetal Gaucher disease | HP:0040282 - Frequent | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | GLE1 CL E G H | 2733 | 4315 | ORPHA:1486 | Lethal congenital contracture syndrome type 1 | HP:0040282 - Frequent | | | 45 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040282 - Frequent | | | 270 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | GNAI3 CL E G H | 2773 | 4387 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040282 - Frequent | | | 73 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040282 - Frequent | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | GRIP1 CL E G H | 23426 | 18708 | ORPHA:2052 | Fraser syndrome | HP:0040282 - Frequent | | | 80 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | HBA1 CL E G H | 3039 | 4823 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | HP:0040282 - Frequent | | | 200 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | HBA2 CL E G H | 3040 | 4824 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | HP:0040282 - Frequent | | | 88 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | HERC1 CL E G H | 8925 | 4867 | ORPHA:457359 | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | HES7 CL E G H | 84667 | 15977 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 10 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:887 | VACTERL/VATER association | HP:0040283 - Occasional | | | 25 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:3071 | Costello syndrome | HP:0040283 - Occasional | | | 113 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 345 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040281 - Very frequent | | | 345 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:2189 | Hydrolethalus | HP:0040282 - Frequent | | | 31 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 48 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | IFT27 CL E G H | 11020 | 18626 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | IFT74 CL E G H | 80173 | 21424 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 111 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | ITCH CL E G H | 83737 | 13890 | ORPHA:228426 | Syndromic multisystem autoimmune disease due to Itch deficiency | HP:0040283 - Occasional | | | 3 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | KAT6A CL E G H | 7994 | 13013 | ORPHA:457193 | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 24 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | KIAA0753 CL E G H | 9851 | 29110 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 4 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2189 | Hydrolethalus | HP:0040282 - Frequent | | | 167 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 167 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 196 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 196 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | LFNG CL E G H | 3955 | 6560 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 13 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:235 | Dubowitz syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | LZTFL1 CL E G H | 54585 | 6741 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | LZTR1 CL E G H | 8216 | 6742 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 43 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 178 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:638 | Neurofibromatosis-Noonan syndrome | HP:0040281 - Very frequent | | | 178 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | MAPRE2 CL E G H | 10982 | 6891 | ORPHA:2505 | Multiple benign circumferential skin creases on limbs | HP:0040283 - Occasional | | | 4 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254525 | Temple syndrome due to paternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | 1 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | MESP2 CL E G H | 145873 | 29659 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 45 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | METTL5 CL E G H | 29081 | 25006 | OMIM:618665 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72 | | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | MGAT2 CL E G H | 4247 | 7045 | ORPHA:79329 | MGAT2-CDG | HP:0040283 - Occasional | | | 39 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | MKKS CL E G H | 8195 | 7108 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 69 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 127 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 127 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 127 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | MRAS CL E G H | 22808 | 7227 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | MRPS28 CL E G H | 28957 | 14513 | OMIM:618958 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47 | | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | MVK CL E G H | 4598 | 7530 | ORPHA:29 | Mevalonic aciduria | HP:0040282 - Frequent | | | 150 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:178110 | Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A | . | | | 166 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | NAA10 CL E G H | 8260 | 18704 | ORPHA:568 | Microphthalmia, Lenz type | HP:0040282 - Frequent | | | 23 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:638 | Neurofibromatosis-Noonan syndrome | HP:0040281 - Very frequent | | | 1952 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 494 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 85 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040282 - Frequent | | | 85 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | NRAS CL E G H | 4893 | 7989 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 102 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:3447 | Weaver syndrome | HP:0040281 - Very frequent | | | 544 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 118 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | NSUN2 CL E G H | 54888 | 25994 | ORPHA:235 | Dubowitz syndrome | HP:0040282 - Frequent | | | 84 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040282 - Frequent | | | 88 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 201 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:990 | Agnathia-holoprosencephaly-situs inversus syndrome | HP:0040281 - Very frequent | | | 41 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | PDE6D CL E G H | 5147 | 8788 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 1 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 169 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 75 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 4 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 65 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 66 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 46 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 59 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 62 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 82 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 106 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 47 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 99 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 98 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | PLAA CL E G H | 9373 | 9043 | ORPHA:521426 | PLAA-associated neurodevelopmental disorder | HP:0040282 - Frequent | | | 3 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | PLCB4 CL E G H | 5332 | 9059 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040282 - Frequent | | | 82 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:2377 | Laurence-Moon syndrome | HP:0040283 - Occasional | | | 103 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | PPM1B CL E G H | 5495 | 9276 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | PPP1CB CL E G H | 5500 | 9282 | ORPHA:2701 | Noonan syndrome-like disorder with loose anagen hair | HP:0040281 - Very frequent | | | 9 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 148 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | PREPL CL E G H | 9581 | 30228 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | PRRX1 CL E G H | 5396 | 9142 | ORPHA:990 | Agnathia-holoprosencephaly-situs inversus syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 291 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040282 - Frequent | | | 291 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | RAB18 CL E G H | 22931 | 14244 | ORPHA:2510 | Micro syndrome | HP:0040282 - Frequent | | | 85 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:1387 | Cataract-intellectual disability-hypogonadism syndrome | HP:0040282 - Frequent | | | 90 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:2510 | Micro syndrome | HP:0040282 - Frequent | | | 90 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:1387 | Cataract-intellectual disability-hypogonadism syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:2510 | Micro syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 212 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040282 - Frequent | | | 212 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:1713 | 17p11.2 microduplication syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | RASA2 CL E G H | 5922 | 9872 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | RBM8A CL E G H | 9939 | 9905 | ORPHA:3320 | Thrombocytopenia-absent radius syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:218600 | Baller-Gerold syndrome | . | | | 445 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | RERE CL E G H | 473 | 9965 | ORPHA:494344 | RERE-related neurodevelopmental syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | RIPPLY2 CL E G H | 134701 | 21390 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 3 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | RIT1 CL E G H | 6016 | 10023 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 39 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | HP:0040282 - Frequent | | | 37 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040282 - Frequent | | | 120 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 109 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040282 - Frequent | | | 167 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 167 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | RRAS CL E G H | 6237 | 10447 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | RRAS2 CL E G H | 22800 | 17271 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254525 | Temple syndrome due to paternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | HP:0040283 - Occasional | | | 113 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | SCAPER CL E G H | 49855 | 13081 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | SDCCAG8 CL E G H | 10806 | 10671 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 61 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | SEMA5A CL E G H | 9037 | 10736 | ORPHA:281 | Monosomy 5p | HP:0040281 - Very frequent | | | 6 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | SF3B4 CL E G H | 10262 | 10771 | ORPHA:245 | Nager syndrome | HP:0040283 - Occasional | | | 49 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | SHOC2 CL E G H | 8036 | 15454 | ORPHA:2701 | Noonan syndrome-like disorder with loose anagen hair | HP:0040281 - Very frequent | | | 74 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | SKI CL E G H | 6497 | 10896 | OMIM:182212 | Shprintzen-Goldberg craniosynostosis syndrome | | | | 150 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | SLC25A24 CL E G H | 29957 | 20662 | ORPHA:2963 | Progeroid syndrome, Petty type | HP:0040281 - Very frequent | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:628 | Diastrophic dysplasia | HP:0040282 - Frequent | | | 166 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | SLC3A1 CL E G H | 6519 | 11025 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040281 - Very frequent | | | 55 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 91 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | HP:0040282 - Frequent | | | 15 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | SOD1 CL E G H | 6647 | 11179 | OMIM:618598 | SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP | | | | 53 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | SOS1 CL E G H | 6654 | 11187 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 315 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | SOS2 CL E G H | 6655 | 11188 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 30 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | SPRED1 CL E G H | 161742 | 20249 | OMIM:611431 | Legius syndrome | . | | | 136 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | SPRED2 CL E G H | 200734 | 17722 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | SPRED2 CL E G H | 200734 | 17722 | OMIM:619745 | NOONAN SYNDROME 14; NS14 | | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | HP:0040283 - Occasional | | | 23 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | SUZ12 CL E G H | 23512 | 17101 | ORPHA:3447 | Weaver syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | TBC1D20 CL E G H | 128637 | 16133 | ORPHA:2510 | Micro syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | TBCE CL E G H | 6905 | 11582 | ORPHA:2323 | Sanjad-Sakati syndrome | HP:0040281 - Very frequent | | | 52 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | TBR1 CL E G H | 10716 | 11590 | ORPHA:1617 | 2q24 microdeletion syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 45 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 76 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 31 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 31 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | TFAP2A CL E G H | 7020 | 11742 | ORPHA:1297 | Branchio-oculo-facial syndrome | HP:0040281 - Very frequent | | | 12 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | TGDS CL E G H | 23483 | 20324 | ORPHA:1388 | Catel-Manzke syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | TMCO1 CL E G H | 54499 | 18188 | ORPHA:1394 | Cerebrofaciothoracic dysplasia | HP:0040281 - Very frequent | | | 6 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | . | | | 6 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | TMEM138 CL E G H | 51524 | 26944 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 39 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 45 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 45 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 45 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 33 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 82 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040282 - Frequent | | | 82 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 82 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 166 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | TOPORS CL E G H | 10210 | 21653 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 61 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | TRIM32 CL E G H | 22954 | 16380 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 108 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | TRIP13 CL E G H | 9319 | 12307 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | HP:0040281 - Very frequent | | | 171 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:2635 | Metatropic dysplasia | HP:0040283 - Occasional | | | 214 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | TTC8 CL E G H | 123016 | 20087 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 41 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | TUBB CL E G H | 203068 | 20778 | ORPHA:2505 | Multiple benign circumferential skin creases on limbs | HP:0040283 - Occasional | | | 14 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | UMPS CL E G H | 7372 | 12563 | ORPHA:30 | Hereditary orotic aciduria | HP:0040282 - Frequent | | | 135 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | UNC80 CL E G H | 285175 | 26582 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040282 - Frequent | | | 23 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | USP9X CL E G H | 8239 | 12632 | ORPHA:480880 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | HP:0040283 - Occasional | | | 27 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | WDPCP CL E G H | 51057 | 28027 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | XYLT1 CL E G H | 64131 | 15516 | ORPHA:1425 | Desbuquois syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0000368 | HP:0000368 | Low-set, posteriorly rotated ears | 0 | ZNF423 CL E G H | 23090 | 16762 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 49 | | |