Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the outer ear (HP:0000356)

Parent Node:
Abnormal location of ears (HP:0000357)

..Starting node
..Posteriorly rotated ears (HP:0000358)

Term ID:

358

Name:

Posteriorly rotated ears

Synonym:

Ear, posterior angulation, increased; Ears rotated toward back of head; Posteriorly angulated ears; Posteriorly rotated; Posteriorly rotated auricles; Posteriorly-angulated ears; Posteriorly-rotated ears

Definition:

A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).

Comments:

Reference:

HP:0000358

Genes and Diseases:

Child Nodes:

........

Low-set, posteriorly rotated ears (HP:0000368)

Sister Nodes:

Anteverted ears (HP:0040080)

Asymmetry of the ears (HP:0010722)

Low-set ears (HP:0000369)

Superiorly displaced ears (HP:0008541)

Synotia (HP:0100663)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type		34
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type	HP:0040281 - Very frequent	34
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy		23
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ADAMTS18 CL E G H	170692	17110	OMIM:615458	Microcornea, myopic chorioretinal atrophy, and telecanthus	.	8
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0000358	HP:0000358	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		6
HP:0000358	HP:0000358	Posteriorly rotated ears	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect		175
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3		5
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome		5
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0000358	HP:0000358	Posteriorly rotated ears	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0000358	HP:0000358	Posteriorly rotated ears	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040283 - Occasional	34
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0000358	HP:0000358	Posteriorly rotated ears	0	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0000358	HP:0000358	Posteriorly rotated ears	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome		219
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome		29
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	.	7
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.	16
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0000358	HP:0000358	Posteriorly rotated ears	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	43
HP:0000358	HP:0000358	Posteriorly rotated ears	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	38
HP:0000358	HP:0000358	Posteriorly rotated ears	0	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome		38
HP:0000358	HP:0000358	Posteriorly rotated ears	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0000358	HP:0000358	Posteriorly rotated ears	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0000358	HP:0000358	Posteriorly rotated ears	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	17
HP:0000358	HP:0000358	Posteriorly rotated ears	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0000358	HP:0000358	Posteriorly rotated ears	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0000358	HP:0000358	Posteriorly rotated ears	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000358	HP:0000358	Posteriorly rotated ears	0	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome		1
HP:0000358	HP:0000358	Posteriorly rotated ears	0	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome		114
HP:0000358	HP:0000358	Posteriorly rotated ears	0	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome		118
HP:0000358	HP:0000358	Posteriorly rotated ears	0	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome		71
HP:0000358	HP:0000358	Posteriorly rotated ears	0	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome		97
HP:0000358	HP:0000358	Posteriorly rotated ears	0	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome		87
HP:0000358	HP:0000358	Posteriorly rotated ears	0	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome		25
HP:0000358	HP:0000358	Posteriorly rotated ears	0	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome		66
HP:0000358	HP:0000358	Posteriorly rotated ears	0	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome		119
HP:0000358	HP:0000358	Posteriorly rotated ears	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.	3
HP:0000358	HP:0000358	Posteriorly rotated ears	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000358	HP:0000358	Posteriorly rotated ears	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type		101
HP:0000358	HP:0000358	Posteriorly rotated ears	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.	101
HP:0000358	HP:0000358	Posteriorly rotated ears	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000358	HP:0000358	Posteriorly rotated ears	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0000358	HP:0000358	Posteriorly rotated ears	0	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.	13
HP:0000358	HP:0000358	Posteriorly rotated ears	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0000358	HP:0000358	Posteriorly rotated ears	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0000358	HP:0000358	Posteriorly rotated ears	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.	276
HP:0000358	HP:0000358	Posteriorly rotated ears	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0000358	HP:0000358	Posteriorly rotated ears	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines		276
HP:0000358	HP:0000358	Posteriorly rotated ears	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000358	HP:0000358	Posteriorly rotated ears	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0000358	HP:0000358	Posteriorly rotated ears	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0000358	HP:0000358	Posteriorly rotated ears	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0000358	HP:0000358	Posteriorly rotated ears	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0000358	HP:0000358	Posteriorly rotated ears	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000358	HP:0000358	Posteriorly rotated ears	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0000358	HP:0000358	Posteriorly rotated ears	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome		1
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome		85
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome		317
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.	317
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect		247
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies	.	3
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome		83
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.	83
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.	6
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	9
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	31
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.	2
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome		2
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.	8
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	50
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect		7
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome		1
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome		342
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect		342
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect		90
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18		72
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000358	HP:0000358	Posteriorly rotated ears	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG		52
HP:0000358	HP:0000358	Posteriorly rotated ears	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg		52
HP:0000358	HP:0000358	Posteriorly rotated ears	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040282 - Frequent	79
HP:0000358	HP:0000358	Posteriorly rotated ears	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040283 - Occasional	222
HP:0000358	HP:0000358	Posteriorly rotated ears	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	284
HP:0000358	HP:0000358	Posteriorly rotated ears	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	193
HP:0000358	HP:0000358	Posteriorly rotated ears	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040283 - Occasional	6
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21		20
HP:0000358	HP:0000358	Posteriorly rotated ears	0	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p		15
HP:0000358	HP:0000358	Posteriorly rotated ears	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	108
HP:0000358	HP:0000358	Posteriorly rotated ears	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0000358	HP:0000358	Posteriorly rotated ears	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS		72
HP:0000358	HP:0000358	Posteriorly rotated ears	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis		72
HP:0000358	HP:0000358	Posteriorly rotated ears	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0000358	HP:0000358	Posteriorly rotated ears	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0000358	HP:0000358	Posteriorly rotated ears	0	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis		59
HP:0000358	HP:0000358	Posteriorly rotated ears	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000358	HP:0000358	Posteriorly rotated ears	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040282 - Frequent	164
HP:0000358	HP:0000358	Posteriorly rotated ears	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0000358	HP:0000358	Posteriorly rotated ears	0	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion		1
HP:0000358	HP:0000358	Posteriorly rotated ears	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0000358	HP:0000358	Posteriorly rotated ears	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000358	HP:0000358	Posteriorly rotated ears	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent	91
HP:0000358	HP:0000358	Posteriorly rotated ears	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0000358	HP:0000358	Posteriorly rotated ears	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0000358	HP:0000358	Posteriorly rotated ears	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0000358	HP:0000358	Posteriorly rotated ears	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0000358	HP:0000358	Posteriorly rotated ears	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0000358	HP:0000358	Posteriorly rotated ears	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	.	13
HP:0000358	HP:0000358	Posteriorly rotated ears	0	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome		6
HP:0000358	HP:0000358	Posteriorly rotated ears	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome		4
HP:0000358	HP:0000358	Posteriorly rotated ears	0	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0000358	HP:0000358	Posteriorly rotated ears	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0000358	HP:0000358	Posteriorly rotated ears	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2		250
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4		20
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome		36
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0000358	HP:0000358	Posteriorly rotated ears	0	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0000358	HP:0000358	Posteriorly rotated ears	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2		96
HP:0000358	HP:0000358	Posteriorly rotated ears	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome		81
HP:0000358	HP:0000358	Posteriorly rotated ears	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000358	HP:0000358	Posteriorly rotated ears	0	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia	HP:0040281 - Very frequent	35
HP:0000358	HP:0000358	Posteriorly rotated ears	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	HP:0040283 - Occasional	35
HP:0000358	HP:0000358	Posteriorly rotated ears	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040281 - Very frequent	1361
HP:0000358	HP:0000358	Posteriorly rotated ears	0	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	.	7
HP:0000358	HP:0000358	Posteriorly rotated ears	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000358	HP:0000358	Posteriorly rotated ears	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome		62
HP:0000358	HP:0000358	Posteriorly rotated ears	0	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome		172
HP:0000358	HP:0000358	Posteriorly rotated ears	0	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome	.	172
HP:0000358	HP:0000358	Posteriorly rotated ears	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0000358	HP:0000358	Posteriorly rotated ears	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.	68
HP:0000358	HP:0000358	Posteriorly rotated ears	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000358	HP:0000358	Posteriorly rotated ears	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	157
HP:0000358	HP:0000358	Posteriorly rotated ears	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	184
HP:0000358	HP:0000358	Posteriorly rotated ears	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome		8
HP:0000358	HP:0000358	Posteriorly rotated ears	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0000358	HP:0000358	Posteriorly rotated ears	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	9
HP:0000358	HP:0000358	Posteriorly rotated ears	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0000358	HP:0000358	Posteriorly rotated ears	0	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0000358	HP:0000358	Posteriorly rotated ears	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0000358	HP:0000358	Posteriorly rotated ears	0	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia	.	1
HP:0000358	HP:0000358	Posteriorly rotated ears	0	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome		1
HP:0000358	HP:0000358	Posteriorly rotated ears	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0000358	HP:0000358	Posteriorly rotated ears	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome		10
HP:0000358	HP:0000358	Posteriorly rotated ears	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000358	HP:0000358	Posteriorly rotated ears	0	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0000358	HP:0000358	Posteriorly rotated ears	0	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1		45
HP:0000358	HP:0000358	Posteriorly rotated ears	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	HP:0040284 - Very rare	270
HP:0000358	HP:0000358	Posteriorly rotated ears	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0000358	HP:0000358	Posteriorly rotated ears	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	3
HP:0000358	HP:0000358	Posteriorly rotated ears	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0000358	HP:0000358	Posteriorly rotated ears	0	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome		2
HP:0000358	HP:0000358	Posteriorly rotated ears	0	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1	.	2
HP:0000358	HP:0000358	Posteriorly rotated ears	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0000358	HP:0000358	Posteriorly rotated ears	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0000358	HP:0000358	Posteriorly rotated ears	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0000358	HP:0000358	Posteriorly rotated ears	0	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia	HP:0040281 - Very frequent	99
HP:0000358	HP:0000358	Posteriorly rotated ears	0	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49		4
HP:0000358	HP:0000358	Posteriorly rotated ears	0	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.	3
HP:0000358	HP:0000358	Posteriorly rotated ears	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0000358	HP:0000358	Posteriorly rotated ears	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0000358	HP:0000358	Posteriorly rotated ears	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0000358	HP:0000358	Posteriorly rotated ears	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0000358	HP:0000358	Posteriorly rotated ears	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000358	HP:0000358	Posteriorly rotated ears	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000358	HP:0000358	Posteriorly rotated ears	0	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		200
HP:0000358	HP:0000358	Posteriorly rotated ears	0	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		88
HP:0000358	HP:0000358	Posteriorly rotated ears	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0000358	HP:0000358	Posteriorly rotated ears	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.	16
HP:0000358	HP:0000358	Posteriorly rotated ears	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome		16
HP:0000358	HP:0000358	Posteriorly rotated ears	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		10
HP:0000358	HP:0000358	Posteriorly rotated ears	0	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3	HP:0040283 - Occasional	2
HP:0000358	HP:0000358	Posteriorly rotated ears	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association		25
HP:0000358	HP:0000358	Posteriorly rotated ears	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0000358	HP:0000358	Posteriorly rotated ears	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome		113
HP:0000358	HP:0000358	Posteriorly rotated ears	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000358	HP:0000358	Posteriorly rotated ears	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome		345
HP:0000358	HP:0000358	Posteriorly rotated ears	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional	345
HP:0000358	HP:0000358	Posteriorly rotated ears	0	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type	.	345
HP:0000358	HP:0000358	Posteriorly rotated ears	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0000358	HP:0000358	Posteriorly rotated ears	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0000358	HP:0000358	Posteriorly rotated ears	0	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus		31
HP:0000358	HP:0000358	Posteriorly rotated ears	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0000358	HP:0000358	Posteriorly rotated ears	0	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome		48
HP:0000358	HP:0000358	Posteriorly rotated ears	0	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome		1
HP:0000358	HP:0000358	Posteriorly rotated ears	0	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome		3
HP:0000358	HP:0000358	Posteriorly rotated ears	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0000358	HP:0000358	Posteriorly rotated ears	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect		111
HP:0000358	HP:0000358	Posteriorly rotated ears	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0000358	HP:0000358	Posteriorly rotated ears	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency		3
HP:0000358	HP:0000358	Posteriorly rotated ears	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome	.	34
HP:0000358	HP:0000358	Posteriorly rotated ears	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome		34
HP:0000358	HP:0000358	Posteriorly rotated ears	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040281 - Very frequent	141
HP:0000358	HP:0000358	Posteriorly rotated ears	0	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant	.	141
HP:0000358	HP:0000358	Posteriorly rotated ears	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome		1
HP:0000358	HP:0000358	Posteriorly rotated ears	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.	13
HP:0000358	HP:0000358	Posteriorly rotated ears	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000358	HP:0000358	Posteriorly rotated ears	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0000358	HP:0000358	Posteriorly rotated ears	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0000358	HP:0000358	Posteriorly rotated ears	0	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38		4
HP:0000358	HP:0000358	Posteriorly rotated ears	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6		4
HP:0000358	HP:0000358	Posteriorly rotated ears	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0000358	HP:0000358	Posteriorly rotated ears	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0000358	HP:0000358	Posteriorly rotated ears	0	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus		167
HP:0000358	HP:0000358	Posteriorly rotated ears	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6		167
HP:0000358	HP:0000358	Posteriorly rotated ears	0	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0000358	HP:0000358	Posteriorly rotated ears	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0000358	HP:0000358	Posteriorly rotated ears	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0000358	HP:0000358	Posteriorly rotated ears	0	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2	.	196
HP:0000358	HP:0000358	Posteriorly rotated ears	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome		196
HP:0000358	HP:0000358	Posteriorly rotated ears	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0000358	HP:0000358	Posteriorly rotated ears	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	136
HP:0000358	HP:0000358	Posteriorly rotated ears	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0000358	HP:0000358	Posteriorly rotated ears	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		13
HP:0000358	HP:0000358	Posteriorly rotated ears	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0000358	HP:0000358	Posteriorly rotated ears	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000358	HP:0000358	Posteriorly rotated ears	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0000358	HP:0000358	Posteriorly rotated ears	0	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040281 - Very frequent	289
HP:0000358	HP:0000358	Posteriorly rotated ears	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000358	HP:0000358	Posteriorly rotated ears	0	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome		4
HP:0000358	HP:0000358	Posteriorly rotated ears	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome		43
HP:0000358	HP:0000358	Posteriorly rotated ears	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent	21
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome	HP:0040283 - Occasional	21
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome		178
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.	11
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs		4
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	.	4
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type	.
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion		1
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0000358	HP:0000358	Posteriorly rotated ears	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0000358	HP:0000358	Posteriorly rotated ears	0	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.	39
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	.	91
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome		69
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome		127
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect		127
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID		1
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	.	29
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5	.	25
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.	72
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent	72
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria		150
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.	35
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A		166
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0000358	HP:0000358	Posteriorly rotated ears	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent
HP:0000358	HP:0000358	Posteriorly rotated ears	0	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type		23
HP:0000358	HP:0000358	Posteriorly rotated ears	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000358	HP:0000358	Posteriorly rotated ears	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome		48
HP:0000358	HP:0000358	Posteriorly rotated ears	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0000358	HP:0000358	Posteriorly rotated ears	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0000358	HP:0000358	Posteriorly rotated ears	0	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome		1952
HP:0000358	HP:0000358	Posteriorly rotated ears	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0000358	HP:0000358	Posteriorly rotated ears	0	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome		1952
HP:0000358	HP:0000358	Posteriorly rotated ears	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional	40
HP:0000358	HP:0000358	Posteriorly rotated ears	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0000358	HP:0000358	Posteriorly rotated ears	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040281 - Very frequent	144
HP:0000358	HP:0000358	Posteriorly rotated ears	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.	144
HP:0000358	HP:0000358	Posteriorly rotated ears	0	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome		85
HP:0000358	HP:0000358	Posteriorly rotated ears	0	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect		85
HP:0000358	HP:0000358	Posteriorly rotated ears	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome		102
HP:0000358	HP:0000358	Posteriorly rotated ears	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0000358	HP:0000358	Posteriorly rotated ears	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0000358	HP:0000358	Posteriorly rotated ears	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome		544
HP:0000358	HP:0000358	Posteriorly rotated ears	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0000358	HP:0000358	Posteriorly rotated ears	0	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome	.	34
HP:0000358	HP:0000358	Posteriorly rotated ears	0	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040281 - Very frequent	34
HP:0000358	HP:0000358	Posteriorly rotated ears	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0000358	HP:0000358	Posteriorly rotated ears	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0000358	HP:0000358	Posteriorly rotated ears	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent
HP:0000358	HP:0000358	Posteriorly rotated ears	0	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4	.
HP:0000358	HP:0000358	Posteriorly rotated ears	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0000358	HP:0000358	Posteriorly rotated ears	0	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.	2
HP:0000358	HP:0000358	Posteriorly rotated ears	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0000358	HP:0000358	Posteriorly rotated ears	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6		201
HP:0000358	HP:0000358	Posteriorly rotated ears	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	53
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	21
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	39
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0000358	HP:0000358	Posteriorly rotated ears	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000358	HP:0000358	Posteriorly rotated ears	0	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		41
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional	113
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6		1
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy		169
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy		75
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy		4
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy		65
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy		66
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy		46
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy		59
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy		62
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy		82
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy		106
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)	.	106
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy		47
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B	.	47
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy		99
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy		98
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	.	86
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040281 - Very frequent	77
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.	37
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	.	3
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder		3
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome		82
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2	.	82
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome		103
HP:0000358	HP:0000358	Posteriorly rotated ears	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis		10
HP:0000358	HP:0000358	Posteriorly rotated ears	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.	35
HP:0000358	HP:0000358	Posteriorly rotated ears	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare	35
HP:0000358	HP:0000358	Posteriorly rotated ears	0	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	.	1129
HP:0000358	HP:0000358	Posteriorly rotated ears	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0000358	HP:0000358	Posteriorly rotated ears	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0000358	HP:0000358	Posteriorly rotated ears	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	180
HP:0000358	HP:0000358	Posteriorly rotated ears	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	33
HP:0000358	HP:0000358	Posteriorly rotated ears	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	18
HP:0000358	HP:0000358	Posteriorly rotated ears	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	213
HP:0000358	HP:0000358	Posteriorly rotated ears	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	221
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	.	22
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair		9
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome		148
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome		7
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		4
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.	291
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome		291
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines		291
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040282 - Frequent	19
HP:0000358	HP:0000358	Posteriorly rotated ears	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB	.	53
HP:0000358	HP:0000358	Posteriorly rotated ears	0	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	.
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome		85
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome		90
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome		90
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome		135
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	.	135
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome		135
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome		212
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines		212
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome		150
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent	73
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome		3
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome		16
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.	16
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome		10
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome		16
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome		16
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		3
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome		39
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent	15
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect		167
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	HP:0040283 - Occasional	20
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	.	1
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome		1
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0000358	HP:0000358	Posteriorly rotated ears	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome		34
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome		61
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p		6
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome		49
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair		74
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia	HP:0040282 - Frequent	2
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome		150
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040281 - Very frequent	150
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent	2
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia		166
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome		55
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.	15
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.	6
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP		53
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome		315
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome		30
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.	14
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10	.
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome	.	11
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome		4
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome		136
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	.	138
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0000358	HP:0000358	Posteriorly rotated ears	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000358	HP:0000358	Posteriorly rotated ears	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome		1
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome		15
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.	52
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome		52
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	.	22
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040282 - Frequent	22
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome		1
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.	1
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent	31
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6		31
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome		12
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome		6
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.	1
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia		6
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect		39
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK	.	24
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect		45
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6		45
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect		33
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.	82
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect		82
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect		82
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6		61
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome		108
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2		171
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia		214
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome		41
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent	106
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs		14
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	.	14
HP:0000358	HP:0000358	Posteriorly rotated ears	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0000358	HP:0000358	Posteriorly rotated ears	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000358	HP:0000358	Posteriorly rotated ears	0	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria		135
HP:0000358	HP:0000358	Posteriorly rotated ears	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	.	23
HP:0000358	HP:0000358	Posteriorly rotated ears	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome		23
HP:0000358	HP:0000358	Posteriorly rotated ears	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	.	27
HP:0000358	HP:0000358	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		27
HP:0000358	HP:0000358	Posteriorly rotated ears	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000358	HP:0000358	Posteriorly rotated ears	0	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome		20
HP:0000358	HP:0000358	Posteriorly rotated ears	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040283 - Occasional	20
HP:0000358	HP:0000358	Posteriorly rotated ears	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional	20
HP:0000358	HP:0000358	Posteriorly rotated ears	0	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome		60
HP:0000358	HP:0000358	Posteriorly rotated ears	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98
HP:0000358	HP:0000358	Posteriorly rotated ears	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0000358	HP:0000358	Posteriorly rotated ears	0	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome		14
HP:0000358	HP:0000358	Posteriorly rotated ears	0	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome	.	5
HP:0000358	HP:0000358	Posteriorly rotated ears	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040282 - Frequent	7
HP:0000358	HP:0000358	Posteriorly rotated ears	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome	.	7
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent	362
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent	362
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies		4
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect		49
HP:0000358	HP:0000358	Posteriorly rotated ears	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type	HP:0040281 - Very frequent	34
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type	.	34
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040283 - Occasional	23
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	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:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	175
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3	.	5
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent	5
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent	9
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome	HP:0040282 - Frequent	219
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	29
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040283 - Occasional	145
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome	HP:0040281 - Very frequent	38
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	28
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	34
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	1
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	114
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	118
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	71
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	97
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	87
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	25
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	66
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	119
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent	101
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	276
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent	276
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	5
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	76
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent	1
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent	85
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	3
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	317
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	247
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	247
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040281 - Very frequent	83
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	7
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	1
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	342
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	342
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	342
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	90
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	17
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	515
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	27
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040282 - Frequent	52
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.	52
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	1
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	57
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21		20
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p	HP:0040281 - Very frequent	15
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040282 - Frequent	72
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent	159
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis	HP:0040281 - Very frequent	59
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	13
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	6
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	4
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.	20
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040281 - Very frequent	36
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent	96
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	81
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040282 - Frequent	62
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome	HP:0040281 - Very frequent	172
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome	.	175
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent	8
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	353
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	263
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	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:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	10
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease	HP:0040282 - Frequent
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1	HP:0040282 - Frequent	45
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	2
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent	73
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	80
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent	200
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent	88
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	37
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040282 - Frequent	16
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	10
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040283 - Occasional	25
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040283 - Occasional	113
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	345
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040281 - Very frequent	345
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus	HP:0040282 - Frequent	31
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	48
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	1
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	3
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	111
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040283 - Occasional	3
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040282 - Frequent	34
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	1
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	4
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus	HP:0040282 - Frequent	167
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	167
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	196
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	196
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	13
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	88
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	4
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	43
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	134
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	178
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040281 - Very frequent	178
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	4
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	69
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	127
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	127
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	127
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria	HP:0040282 - Frequent	150
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A	.	166
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent	23
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent	48
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	13
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040281 - Very frequent	1952
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	494
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	85
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect	HP:0040282 - Frequent	85
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	102
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	544
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	118
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	84
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	2
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent	88
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	201
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	41
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	1
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	169
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	75
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	4
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	65
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	66
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	46
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	59
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	62
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	82
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	106
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	47
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	99
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	98
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	7
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040281 - Very frequent	37
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent	3
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	82
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome	HP:0040283 - Occasional	103
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040281 - Very frequent	9
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	148
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent	7
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	4
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	291
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent	291
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	85
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040282 - Frequent	90
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	90
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040282 - Frequent	135
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	135
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	25
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	212
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent	212
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome	HP:0040283 - Occasional	150
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	3
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040283 - Occasional	16
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040282 - Frequent	10
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	16
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional	16
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	3
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	39
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040282 - Frequent	37
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	120
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	109
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect	HP:0040282 - Frequent	167
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	167
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	1
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	61
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	16
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p	HP:0040281 - Very frequent	6
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040283 - Occasional	49
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040281 - Very frequent	74
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	150
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040282 - Frequent	166
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent	55
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	135
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	91
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent	15
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP		53
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	315
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	30
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	4
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome	.	136
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional	23
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	1
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	15
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040281 - Very frequent	52
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome	HP:0040281 - Very frequent	1
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	45
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	76
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	31
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	31
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040281 - Very frequent	12
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040282 - Frequent	6
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040281 - Very frequent	6
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	4
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	39
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	45
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	45
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	45
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	33
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	33
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	82
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect	HP:0040282 - Frequent	82
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	82
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	166
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	61
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	108
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	2
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent	171
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia	HP:0040283 - Occasional	214
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	41
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	14
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	2
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria	HP:0040282 - Frequent	135
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent	23
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	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:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	60
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent	14
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0000358	HP:0000368	Low-set, posteriorly rotated ears	1	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	49

Genes (439) :ACAN ACTG2 ADAMTS18 ADNP AFF4 AHI1 ALG9 ALX1 ALX3 AMER1 ANKRD11 AP1G1 AP3B1 ARID1B ARID2 ARL6 ASXL1 ASXL2 ASXL3 ATN1 ATRX B3GALNT2 B3GALT6 B3GLCT B4GAT1 B9D1 B9D2 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL11B BCL7B BCOR BICRA BLTP1 BMP2 BMP4 BRAF BRD4 BUB1 BUB1B BUB3 BUD23 C2CD3 CAMKMT CAMTA1 CANT1 CASZ1 CBL CC2D2A CCNK CD96 CDC42 CDC45 CDC6 CDH11 CDH2 CDK10 CDK13 CDT1 CEP120 CEP19 CEP290 CEP41 CEP57 CFAP418 CHD5 CHD7 CHD8 CHMP1A CHST14 CLCN3 CLIP2 COG1 COG5 COL11A2 COL2A1 COL4A1 COX7B CPLANE1 CPLX1 CPT2 CRPPA CSGALNACT1 CSPP1 CTBP1 CTCF CTNND2 DAG1 DDR2 DHCR24 DHCR7 DHODH DHX16 DIS3L2 DLK1 DLL3 DNAJC30 DOK7 DPF2 DSE DVL1 DVL3 EBF3 ECE1 EDN1 EED EIF3F EIF4H ELN EP300 ERCC1 ERMARD ESCO2 EXOSC2 EXT1 EZH2 FAM149B1 FAM20C FBN1 FBXO11 FDFT1 FGD1 FGFR1 FGFR2 FHL1 FKBP6 FKRP FKTN FLI1 FLNA FN1 FRAS1 FREM1 FREM2 FRMD4A FZD2 GABRD GALNT2 GBA1 GLE1 GLI3 GMNN GNAI3 GNB1 GPC3 GPC4 GPC6 GPT2 GPX4 GRIP1 GTF2I GTF2IRD1 GTF2IRD2 H3-3A H4C9 HBA1 HBA2 HDAC8 HERC1 HES7 HOXB1 HOXD13 HRAS HS2ST1 HSPG2 HUWE1 HYLS1 IFT140 IFT172 IFT27 IFT74 IL6ST INPP5E INPPL1 IPO8 ITCH KAT6A KAT6B KCNAB2 KCNH1 KDM4B KDM6A KIAA0586 KIAA0753 KIF7 KMT2B KMT2D KRAS LARGE1 LETM1 LFNG LIG4 LIMK1 LRP2 LUZP1 LZTFL1 LZTR1 MAB21L1 MAF MAP1B MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPRE2 MBTPS1 MED12 MEG3 MEGF8 MESD MESP2 METTL27 METTL5 MGAT2 MID1 MITF MKKS MKS1 MLXIPL MMP23B MN1 MPDZ MRAS MRPS14 MRPS22 MRPS28 MUSK MVK MYCN MYH3 MYMX MYOD1 NAA10 NAA20 NALCN NCF1 NELFA NF1 NFIX NIPBL NOTCH3 NPHP1 NRAS NRCAM NSD1 NSD2 NSDHL NSRP1 NSUN2 NUP88 NXN OCRL OFD1 ORC1 ORC4 ORC6 OTUD5 OTX2 PAX7 PDE4D PDE6D PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHOX2B PIEZO2 PIGB PIGG PIGN PIGS PIGU PIGV PLAA PLCB4 PNPLA6 POC1A POGZ POLE POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 PPM1B PPM1D PPP1CB PPP2R3C PRDM16 PREPL PRKAR1B PRKCZ PRRX1 PTPN11 PUF60 PYCR1 QARS1 RAB18 RAB3GAP1 RAB3GAP2 RAD21 RAF1 RAI1 RALA RAPSN RASA2 RBM10 RBM8A RECQL4 RERE RFC2 RIPPLY2 RIT1 RMRP RNU4ATAC ROR2 RPGRIP1 RPGRIP1L RPS26 RPS28 RRAS RRAS2 RTL1 RTTN RUSC2 RXYLT1 SATB1 SATB2 SCAPER SCARF2 SDCCAG8 SEMA3E SEMA5A SET SF3B4 SHOC2 SIAH1 SIX2 SKI SLC18A3 SLC25A24 SLC26A2 SLC3A1 SMAD2 SMARCA2 SMARCD2 SMC1A SMC3 SMG8 SMG9 SMOC1 SMPD4 SNRPB SOD1 SOS1 SOS2 SOX11 SOX4 SOX5 SPEN SPOP SPRED1 SPRED2 SRCAP SRY STX1A SUPT16H SUZ12 TAPT1 TBC1D20 TBCE TBL1XR1 TBL2 TBR1 TCF20 TCTN1 TCTN2 TCTN3 TFAP2A TFE3 TGDS TLK2 TMCO1 TMEM107 TMEM138 TMEM165 TMEM216 TMEM231 TMEM237 TMEM270 TMEM67 TMEM94 TOGARAM1 TOPORS TRIM32 TRIP13 TRPS1 TRPV4 TRRAP TTC8 TUBA1A TUBB TXNDC15 UBE4B UMPS UNC80 USP9X VPS37D WAC WDPCP WNT5A XYLT1 XYLT2 YY1 ZC4H2 ZEB2 ZMYM2 ZNF148 ZNF423 ZNF699

Diseases (358) :OMIM:612813 ORPHA:171866 ORPHA:2604 OMIM:615458 OMIM:615873 ORPHA:444077 ORPHA:220493 ORPHA:79328 OMIM:263210 OMIM:613456 ORPHA:306542 ORPHA:391474 OMIM:300373 ORPHA:2780 OMIM:148050 OMIM:619548 OMIM:608233 ORPHA:251056 OMIM:135900 OMIM:617808 ORPHA:110 OMIM:605039 ORPHA:97297 OMIM:617190 OMIM:615485 OMIM:618494 OMIM:301040 OMIM:309580 ORPHA:899 ORPHA:536467 ORPHA:2725 ORPHA:709 OMIM:261540 ORPHA:564 ORPHA:904 OMIM:617237 ORPHA:568 OMIM:300166 OMIM:619325 OMIM:617822 OMIM:617877 OMIM:607932 ORPHA:1340 OMIM:115150 OMIM:613707 ORPHA:500 ORPHA:199 ORPHA:1052 OMIM:257300 ORPHA:434179 OMIM:615948 ORPHA:163693 OMIM:614756 ORPHA:1425 ORPHA:1606 ORPHA:648 OMIM:613563 ORPHA:2318 OMIM:618147 ORPHA:1308 OMIM:211750 ORPHA:487796 OMIM:616737 ORPHA:2554 OMIM:211380 OMIM:618929 OMIM:617694 OMIM:617360 OMIM:619873 ORPHA:138 OMIM:615032 OMIM:614961 OMIM:601776 ORPHA:2953 OMIM:619512 ORPHA:263508 OMIM:611209 ORPHA:263487 ORPHA:1427 ORPHA:93315 OMIM:300887 ORPHA:2754 OMIM:277170 ORPHA:280 OMIM:608836 ORPHA:397715 ORPHA:363611 OMIM:615502 ORPHA:281 OMIM:618175 OMIM:602398 ORPHA:35107 ORPHA:818 OMIM:270400 ORPHA:246 OMIM:618733 ORPHA:2849 ORPHA:96334 ORPHA:254525 ORPHA:2311 ORPHA:994 OMIM:618027 ORPHA:3107 OMIM:180700 OMIM:617330 OMIM:613870 ORPHA:137888 ORPHA:3447 OMIM:618295 OMIM:613684 OMIM:610758 ORPHA:75857 OMIM:268300 OMIM:617763 ORPHA:502 ORPHA:1832 OMIM:259775 ORPHA:2462 OMIM:618089 OMIM:618156 ORPHA:915 ORPHA:2117 OMIM:615465 OMIM:123790 OMIM:300280 ORPHA:2308 OMIM:304120 ORPHA:2052 OMIM:608980 OMIM:616819 ORPHA:466688 OMIM:618885 ORPHA:85212 ORPHA:1486 OMIM:146510 ORPHA:672 OMIM:616835 OMIM:602483 OMIM:616973 ORPHA:373 ORPHA:93329 OMIM:616281 OMIM:250220 OMIM:619720 OMIM:619951 ORPHA:98791 OMIM:617011 ORPHA:457359 OMIM:614744 ORPHA:887 OMIM:218040 ORPHA:3071 OMIM:619194 ORPHA:1865 OMIM:224410 ORPHA:800 OMIM:309590 ORPHA:2189 OMIM:266920 OMIM:619750 OMIM:258480 OMIM:619472 OMIM:613385 ORPHA:228426 OMIM:616268 ORPHA:457193 ORPHA:3047 OMIM:603736 OMIM:135500 OMIM:619320 OMIM:147920 OMIM:619476 OMIM:619479 OMIM:200990 OMIM:619934 OMIM:615278 OMIM:609942 ORPHA:235 OMIM:222448 ORPHA:2143 OMIM:605275 OMIM:618479 ORPHA:1272 OMIM:601088 OMIM:618918 ORPHA:638 OMIM:157800 OMIM:619087 ORPHA:2505 OMIM:616734 OMIM:618392 OMIM:300895 OMIM:614976 OMIM:618644 OMIM:618665 OMIM:212066 ORPHA:79329 ORPHA:2745 OMIM:300000 OMIM:617306 OMIM:618774 OMIM:615219 OMIM:618499 OMIM:618378 OMIM:611719 OMIM:618958 OMIM:208150 OMIM:610377 ORPHA:29 OMIM:164280 OMIM:178110 OMIM:619941 OMIM:619717 ORPHA:371364 OMIM:601321 OMIM:193520 ORPHA:447980 ORPHA:2789 OMIM:130720 ORPHA:220497 OMIM:619833 OMIM:117550 OMIM:300831 ORPHA:251383 OMIM:620001 OMIM:618393 ORPHA:1507 OMIM:618529 ORPHA:534 OMIM:300209 OMIM:613803 OMIM:301056 ORPHA:990 OMIM:618578 ORPHA:439822 ORPHA:44 OMIM:214100 OMIM:614872 OMIM:617370 OMIM:209880 ORPHA:2461 OMIM:618580 ORPHA:2059 OMIM:614080 OMIM:618143 OMIM:618590 OMIM:239300 OMIM:617527 ORPHA:521426 OMIM:614669 ORPHA:2377 OMIM:614813 OMIM:616364 ORPHA:468678 OMIM:618336 ORPHA:3455 OMIM:264090 OMIM:617450 ORPHA:2701 OMIM:617506 OMIM:618419 OMIM:619680 OMIM:151100 ORPHA:508488 OMIM:614438 OMIM:615760 ORPHA:2510 ORPHA:1387 OMIM:212720 ORPHA:1713 OMIM:619311 ORPHA:2886 OMIM:311900 ORPHA:3320 OMIM:218600 OMIM:616975 ORPHA:494344 ORPHA:175 ORPHA:2636 OMIM:268310 OMIM:613309 OMIM:606164 ORPHA:468631 OMIM:617773 OMIM:619229 OMIM:612313 OMIM:600920 OMIM:618106 OMIM:154400 ORPHA:245 OMIM:607721 OMIM:619314 ORPHA:488437 OMIM:182212 OMIM:612289 ORPHA:2963 ORPHA:628 OMIM:619657 OMIM:619293 OMIM:601358 OMIM:617475 OMIM:301044 OMIM:610759 OMIM:619268 OMIM:616920 ORPHA:1106 OMIM:206920 OMIM:618622 OMIM:117650 OMIM:618598 OMIM:610733 OMIM:615866 OMIM:618506 OMIM:616803 OMIM:618829 OMIM:611431 OMIM:619745 OMIM:136140 ORPHA:1772 OMIM:619480 OMIM:616897 OMIM:241410 ORPHA:2323 OMIM:602342 ORPHA:487825 ORPHA:1617 OMIM:618430 ORPHA:2753 ORPHA:1297 OMIM:113620 OMIM:301066 ORPHA:1388 OMIM:618050 ORPHA:1394 OMIM:213980 OMIM:614727 OMIM:614424 OMIM:618316 OMIM:619185 ORPHA:2635 OMIM:618454 OMIM:156610 ORPHA:30 OMIM:616801 OMIM:300968 ORPHA:480880 OMIM:616708 ORPHA:284169 ORPHA:466950 OMIM:605822 ORPHA:506358 OMIM:617557 OMIM:301041 ORPHA:261552 ORPHA:261537 OMIM:619522 OMIM:617260 OMIM:619488

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

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