Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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
..Low-set ears (HP:0000369)

Term ID:

369

Name:

Low-set ears

Synonym:

Low set ears; Low-set ears; Low-set pinnae; Lowset ears; Melotia

Definition:

Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.

Comments:

Reference:

HP:0000369

Genes and Diseases:

Child Nodes:

........

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

Sister Nodes:

Anteverted ears (HP:0040080)

Asymmetry of the ears (HP:0010722)

Posteriorly rotated ears (HP:0000358)

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:0000369	HP:0000369	Low-set ears	0	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type		34
HP:0000369	HP:0000369	Low-set ears	0	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type		34
HP:0000369	HP:0000369	Low-set ears	0	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset	.
HP:0000369	HP:0000369	Low-set ears	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.	120
HP:0000369	HP:0000369	Low-set ears	0	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency	HP:0040282 - Frequent	120
HP:0000369	HP:0000369	Low-set ears	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.	16
HP:0000369	HP:0000369	Low-set ears	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional	96
HP:0000369	HP:0000369	Low-set ears	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	96
HP:0000369	HP:0000369	Low-set ears	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.	72
HP:0000369	HP:0000369	Low-set ears	0	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy		23
HP:0000369	HP:0000369	Low-set ears	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0000369	HP:0000369	Low-set ears	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	1
HP:0000369	HP:0000369	Low-set ears	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	116
HP:0000369	HP:0000369	Low-set ears	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional	9
HP:0000369	HP:0000369	Low-set ears	0	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9	.	5
HP:0000369	HP:0000369	Low-set ears	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional	47
HP:0000369	HP:0000369	Low-set ears	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0000369	HP:0000369	Low-set ears	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.	118
HP:0000369	HP:0000369	Low-set ears	0	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency	HP:0040281 - Very frequent	118
HP:0000369	HP:0000369	Low-set ears	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0000369	HP:0000369	Low-set 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:0000369	HP:0000369	Low-set ears	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	127
HP:0000369	HP:0000369	Low-set ears	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040283 - Occasional	36
HP:0000369	HP:0000369	Low-set ears	0	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome	.	36
HP:0000369	HP:0000369	Low-set ears	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	175
HP:0000369	HP:0000369	Low-set ears	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.	175
HP:0000369	HP:0000369	Low-set ears	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect		175
HP:0000369	HP:0000369	Low-set ears	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.	60
HP:0000369	HP:0000369	Low-set ears	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0000369	HP:0000369	Low-set ears	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0000369	HP:0000369	Low-set ears	0	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3	.	89
HP:0000369	HP:0000369	Low-set ears	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.	89
HP:0000369	HP:0000369	Low-set ears	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0000369	HP:0000369	Low-set ears	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36	.	96
HP:0000369	HP:0000369	Low-set ears	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0000369	HP:0000369	Low-set ears	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040283 - Occasional	66
HP:0000369	HP:0000369	Low-set ears	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional	46
HP:0000369	HP:0000369	Low-set ears	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	.	46
HP:0000369	HP:0000369	Low-set ears	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0000369	HP:0000369	Low-set ears	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il	.	93
HP:0000369	HP:0000369	Low-set ears	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0000369	HP:0000369	Low-set ears	0	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3		5
HP:0000369	HP:0000369	Low-set ears	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome		5
HP:0000369	HP:0000369	Low-set ears	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.	9
HP:0000369	HP:0000369	Low-set ears	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0000369	HP:0000369	Low-set ears	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0000369	HP:0000369	Low-set ears	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040282 - Frequent	132
HP:0000369	HP:0000369	Low-set ears	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0000369	HP:0000369	Low-set ears	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040283 - Occasional	34
HP:0000369	HP:0000369	Low-set ears	0	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0000369	HP:0000369	Low-set ears	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040281 - Very frequent	8
HP:0000369	HP:0000369	Low-set ears	0	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome		49
HP:0000369	HP:0000369	Low-set ears	0	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0000369	HP:0000369	Low-set ears	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0000369	HP:0000369	Low-set ears	0	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0000369	HP:0000369	Low-set ears	0	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome		219
HP:0000369	HP:0000369	Low-set ears	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0000369	HP:0000369	Low-set ears	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0000369	HP:0000369	Low-set ears	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	62
HP:0000369	HP:0000369	Low-set ears	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	1
HP:0000369	HP:0000369	Low-set ears	0	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0000369	HP:0000369	Low-set ears	0	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome		29
HP:0000369	HP:0000369	Low-set ears	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000369	HP:0000369	Low-set ears	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	1
HP:0000369	HP:0000369	Low-set ears	0	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2	.	166
HP:0000369	HP:0000369	Low-set ears	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0000369	HP:0000369	Low-set ears	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0000369	HP:0000369	Low-set ears	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0000369	HP:0000369	Low-set ears	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	.	7
HP:0000369	HP:0000369	Low-set ears	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000369	HP:0000369	Low-set ears	0	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria	HP:0040281 - Very frequent	4
HP:0000369	HP:0000369	Low-set ears	0	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency	.	4
HP:0000369	HP:0000369	Low-set ears	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.	16
HP:0000369	HP:0000369	Low-set ears	0	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0000369	HP:0000369	Low-set ears	0	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0000369	HP:0000369	Low-set ears	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0000369	HP:0000369	Low-set ears	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.	140
HP:0000369	HP:0000369	Low-set ears	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0000369	HP:0000369	Low-set ears	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0000369	HP:0000369	Low-set ears	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0000369	HP:0000369	Low-set ears	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.	3
HP:0000369	HP:0000369	Low-set ears	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent	5
HP:0000369	HP:0000369	Low-set ears	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0000369	HP:0000369	Low-set ears	0	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.	2
HP:0000369	HP:0000369	Low-set ears	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0000369	HP:0000369	Low-set ears	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0000369	HP:0000369	Low-set ears	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0000369	HP:0000369	Low-set ears	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040282 - Frequent	61
HP:0000369	HP:0000369	Low-set ears	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.	61
HP:0000369	HP:0000369	Low-set ears	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	43
HP:0000369	HP:0000369	Low-set ears	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	38
HP:0000369	HP:0000369	Low-set ears	0	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome		38
HP:0000369	HP:0000369	Low-set ears	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		5
HP:0000369	HP:0000369	Low-set ears	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0000369	HP:0000369	Low-set ears	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0000369	HP:0000369	Low-set ears	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0000369	HP:0000369	Low-set ears	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0000369	HP:0000369	Low-set ears	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	17
HP:0000369	HP:0000369	Low-set ears	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	28
HP:0000369	HP:0000369	Low-set ears	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0000369	HP:0000369	Low-set ears	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	34
HP:0000369	HP:0000369	Low-set ears	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0000369	HP:0000369	Low-set ears	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0000369	HP:0000369	Low-set ears	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000369	HP:0000369	Low-set ears	0	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome		1
HP:0000369	HP:0000369	Low-set ears	0	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome		114
HP:0000369	HP:0000369	Low-set ears	0	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome		118
HP:0000369	HP:0000369	Low-set ears	0	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome		71
HP:0000369	HP:0000369	Low-set ears	0	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome		97
HP:0000369	HP:0000369	Low-set ears	0	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome		87
HP:0000369	HP:0000369	Low-set ears	0	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome		25
HP:0000369	HP:0000369	Low-set ears	0	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome		66
HP:0000369	HP:0000369	Low-set ears	0	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome		119
HP:0000369	HP:0000369	Low-set ears	0	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin	.	11
HP:0000369	HP:0000369	Low-set ears	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000369	HP:0000369	Low-set ears	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type		101
HP:0000369	HP:0000369	Low-set ears	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.	101
HP:0000369	HP:0000369	Low-set ears	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000369	HP:0000369	Low-set ears	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0000369	HP:0000369	Low-set 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:0000369	HP:0000369	Low-set ears	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0000369	HP:0000369	Low-set ears	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78
HP:0000369	HP:0000369	Low-set ears	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	385
HP:0000369	HP:0000369	Low-set ears	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0000369	HP:0000369	Low-set ears	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0000369	HP:0000369	Low-set ears	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0000369	HP:0000369	Low-set ears	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0000369	HP:0000369	Low-set ears	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0000369	HP:0000369	Low-set ears	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines		276
HP:0000369	HP:0000369	Low-set ears	0	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	HP:0040283 - Occasional	8
HP:0000369	HP:0000369	Low-set ears	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000369	HP:0000369	Low-set ears	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional	7
HP:0000369	HP:0000369	Low-set ears	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome	.	7
HP:0000369	HP:0000369	Low-set ears	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0000369	HP:0000369	Low-set ears	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0000369	HP:0000369	Low-set ears	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0000369	HP:0000369	Low-set ears	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0000369	HP:0000369	Low-set ears	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000369	HP:0000369	Low-set ears	0	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.	13
HP:0000369	HP:0000369	Low-set ears	0	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome	HP:0040282 - Frequent	13
HP:0000369	HP:0000369	Low-set ears	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0000369	HP:0000369	Low-set ears	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0000369	HP:0000369	Low-set ears	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0000369	HP:0000369	Low-set ears	0	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59	.	1
HP:0000369	HP:0000369	Low-set ears	0	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome		1
HP:0000369	HP:0000369	Low-set ears	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.	34
HP:0000369	HP:0000369	Low-set ears	0	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome		85
HP:0000369	HP:0000369	Low-set ears	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0000369	HP:0000369	Low-set ears	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0000369	HP:0000369	Low-set ears	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome		317
HP:0000369	HP:0000369	Low-set ears	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.	317
HP:0000369	HP:0000369	Low-set ears	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	1
HP:0000369	HP:0000369	Low-set ears	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	247
HP:0000369	HP:0000369	Low-set ears	0	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect		247
HP:0000369	HP:0000369	Low-set ears	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0000369	HP:0000369	Low-set ears	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0000369	HP:0000369	Low-set ears	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	147
HP:0000369	HP:0000369	Low-set ears	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent	33
HP:0000369	HP:0000369	Low-set ears	0	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies	.	3
HP:0000369	HP:0000369	Low-set ears	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	HP:0040284 - Very rare	7
HP:0000369	HP:0000369	Low-set ears	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome		83
HP:0000369	HP:0000369	Low-set ears	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.	83
HP:0000369	HP:0000369	Low-set ears	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0000369	HP:0000369	Low-set ears	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.	6
HP:0000369	HP:0000369	Low-set ears	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000369	HP:0000369	Low-set ears	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	9
HP:0000369	HP:0000369	Low-set ears	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0000369	HP:0000369	Low-set ears	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	31
HP:0000369	HP:0000369	Low-set ears	0	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.	31
HP:0000369	HP:0000369	Low-set ears	0	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	4
HP:0000369	HP:0000369	Low-set ears	0	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3		4
HP:0000369	HP:0000369	Low-set ears	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.	2
HP:0000369	HP:0000369	Low-set ears	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000369	HP:0000369	Low-set ears	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome		2
HP:0000369	HP:0000369	Low-set ears	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.	8
HP:0000369	HP:0000369	Low-set ears	0	CDKN1C CL E G H	1028	1786	ORPHA:85173	IMAGe syndrome	HP:0040281 - Very frequent	114
HP:0000369	HP:0000369	Low-set ears	0	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies	.	114
HP:0000369	HP:0000369	Low-set ears	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent	114
HP:0000369	HP:0000369	Low-set ears	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	50
HP:0000369	HP:0000369	Low-set ears	0	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4	.	50
HP:0000369	HP:0000369	Low-set ears	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome	.	27
HP:0000369	HP:0000369	Low-set ears	0	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4	.	161
HP:0000369	HP:0000369	Low-set ears	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	5
HP:0000369	HP:0000369	Low-set ears	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	7
HP:0000369	HP:0000369	Low-set ears	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect		7
HP:0000369	HP:0000369	Low-set ears	0	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome		1
HP:0000369	HP:0000369	Low-set ears	0	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome		342
HP:0000369	HP:0000369	Low-set ears	0	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect		342
HP:0000369	HP:0000369	Low-set ears	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0000369	HP:0000369	Low-set ears	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	90
HP:0000369	HP:0000369	Low-set ears	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect		90
HP:0000369	HP:0000369	Low-set ears	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0000369	HP:0000369	Low-set ears	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0000369	HP:0000369	Low-set ears	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0000369	HP:0000369	Low-set ears	0	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0000369	HP:0000369	Low-set ears	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40	.	16
HP:0000369	HP:0000369	Low-set ears	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	65
HP:0000369	HP:0000369	Low-set ears	0	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	.	2
HP:0000369	HP:0000369	Low-set ears	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.	14
HP:0000369	HP:0000369	Low-set ears	0	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000369	HP:0000369	Low-set ears	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0000369	HP:0000369	Low-set ears	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0000369	HP:0000369	Low-set ears	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0000369	HP:0000369	Low-set ears	0	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	74
HP:0000369	HP:0000369	Low-set ears	0	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	88
HP:0000369	HP:0000369	Low-set ears	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	68
HP:0000369	HP:0000369	Low-set ears	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0000369	HP:0000369	Low-set ears	0	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	68
HP:0000369	HP:0000369	Low-set ears	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0000369	HP:0000369	Low-set ears	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0000369	HP:0000369	Low-set ears	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		165
HP:0000369	HP:0000369	Low-set ears	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional	16
HP:0000369	HP:0000369	Low-set ears	0	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0000369	HP:0000369	Low-set ears	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA	.
HP:0000369	HP:0000369	Low-set ears	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0000369	HP:0000369	Low-set ears	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000369	HP:0000369	Low-set ears	0	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis	.	2
HP:0000369	HP:0000369	Low-set ears	0	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome	HP:0040283 - Occasional	2
HP:0000369	HP:0000369	Low-set ears	0	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS		2
HP:0000369	HP:0000369	Low-set ears	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000369	HP:0000369	Low-set ears	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.	9
HP:0000369	HP:0000369	Low-set ears	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG		52
HP:0000369	HP:0000369	Low-set ears	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg		52
HP:0000369	HP:0000369	Low-set ears	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040282 - Frequent	79
HP:0000369	HP:0000369	Low-set ears	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.	64
HP:0000369	HP:0000369	Low-set ears	0	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040282 - Frequent	215
HP:0000369	HP:0000369	Low-set ears	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0000369	HP:0000369	Low-set ears	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0000369	HP:0000369	Low-set ears	0	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040282 - Frequent	222
HP:0000369	HP:0000369	Low-set ears	0	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19	.	6
HP:0000369	HP:0000369	Low-set ears	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	6
HP:0000369	HP:0000369	Low-set ears	0	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type	HP:0040282 - Frequent	284
HP:0000369	HP:0000369	Low-set ears	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0000369	HP:0000369	Low-set ears	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	193
HP:0000369	HP:0000369	Low-set ears	0	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional	3
HP:0000369	HP:0000369	Low-set ears	0	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional	9
HP:0000369	HP:0000369	Low-set ears	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	6
HP:0000369	HP:0000369	Low-set ears	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000369	HP:0000369	Low-set ears	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000369	HP:0000369	Low-set ears	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0000369	HP:0000369	Low-set ears	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0000369	HP:0000369	Low-set ears	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0000369	HP:0000369	Low-set ears	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0000369	HP:0000369	Low-set ears	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000369	HP:0000369	Low-set ears	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040281 - Very frequent	291
HP:0000369	HP:0000369	Low-set ears	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.	24
HP:0000369	HP:0000369	Low-set ears	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0000369	HP:0000369	Low-set ears	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional
HP:0000369	HP:0000369	Low-set ears	0	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0000369	HP:0000369	Low-set ears	0	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	.	12
HP:0000369	HP:0000369	Low-set ears	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	57
HP:0000369	HP:0000369	Low-set ears	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0000369	HP:0000369	Low-set ears	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0000369	HP:0000369	Low-set ears	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0000369	HP:0000369	Low-set ears	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0000369	HP:0000369	Low-set ears	0	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21		20
HP:0000369	HP:0000369	Low-set ears	0	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p		15
HP:0000369	HP:0000369	Low-set ears	0	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10	.	159
HP:0000369	HP:0000369	Low-set ears	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	.	1
HP:0000369	HP:0000369	Low-set ears	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional	4
HP:0000369	HP:0000369	Low-set ears	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0000369	HP:0000369	Low-set ears	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	108
HP:0000369	HP:0000369	Low-set ears	0	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome	.	5
HP:0000369	HP:0000369	Low-set ears	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000369	HP:0000369	Low-set ears	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0000369	HP:0000369	Low-set ears	0	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V		2
HP:0000369	HP:0000369	Low-set ears	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000369	HP:0000369	Low-set ears	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS		72
HP:0000369	HP:0000369	Low-set ears	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040282 - Frequent	72
HP:0000369	HP:0000369	Low-set ears	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0000369	HP:0000369	Low-set ears	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0000369	HP:0000369	Low-set ears	0	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.	59
HP:0000369	HP:0000369	Low-set ears	0	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis		59
HP:0000369	HP:0000369	Low-set ears	0	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment	.
HP:0000369	HP:0000369	Low-set ears	0	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language	.	4
HP:0000369	HP:0000369	Low-set ears	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.	164
HP:0000369	HP:0000369	Low-set ears	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040282 - Frequent	164
HP:0000369	HP:0000369	Low-set ears	0	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion		1
HP:0000369	HP:0000369	Low-set ears	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0000369	HP:0000369	Low-set ears	0	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15		1
HP:0000369	HP:0000369	Low-set ears	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000369	HP:0000369	Low-set ears	0	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	79
HP:0000369	HP:0000369	Low-set ears	0	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome	.	79
HP:0000369	HP:0000369	Low-set ears	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	.	18
HP:0000369	HP:0000369	Low-set ears	0	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome	.	9
HP:0000369	HP:0000369	Low-set ears	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0000369	HP:0000369	Low-set ears	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040283 - Occasional	3
HP:0000369	HP:0000369	Low-set ears	0	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair	.	3
HP:0000369	HP:0000369	Low-set ears	0	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0000369	HP:0000369	Low-set ears	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0000369	HP:0000369	Low-set ears	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI	HP:0040283 - Occasional	108
HP:0000369	HP:0000369	Low-set ears	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0000369	HP:0000369	Low-set ears	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0000369	HP:0000369	Low-set ears	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0000369	HP:0000369	Low-set ears	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0000369	HP:0000369	Low-set ears	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	.	7
HP:0000369	HP:0000369	Low-set ears	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040284 - Very rare	4
HP:0000369	HP:0000369	Low-set ears	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000369	HP:0000369	Low-set ears	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent	51
HP:0000369	HP:0000369	Low-set ears	0	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome	.	51
HP:0000369	HP:0000369	Low-set ears	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0000369	HP:0000369	Low-set ears	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000369	HP:0000369	Low-set ears	0	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome		6
HP:0000369	HP:0000369	Low-set ears	0	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	.	3
HP:0000369	HP:0000369	Low-set ears	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome	.	4
HP:0000369	HP:0000369	Low-set ears	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome		4
HP:0000369	HP:0000369	Low-set ears	0	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38	.	60
HP:0000369	HP:0000369	Low-set ears	0	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	.	45
HP:0000369	HP:0000369	Low-set ears	0	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2	.	1
HP:0000369	HP:0000369	Low-set ears	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.	48
HP:0000369	HP:0000369	Low-set ears	0	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040281 - Very frequent	48
HP:0000369	HP:0000369	Low-set ears	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	.	4
HP:0000369	HP:0000369	Low-set ears	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000369	HP:0000369	Low-set ears	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000369	HP:0000369	Low-set ears	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0000369	HP:0000369	Low-set ears	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0000369	HP:0000369	Low-set ears	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000369	HP:0000369	Low-set ears	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040281 - Very frequent	250
HP:0000369	HP:0000369	Low-set ears	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0000369	HP:0000369	Low-set ears	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4		20
HP:0000369	HP:0000369	Low-set ears	0	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q	.	158
HP:0000369	HP:0000369	Low-set ears	0	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3	.	83
HP:0000369	HP:0000369	Low-set ears	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome		36
HP:0000369	HP:0000369	Low-set ears	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0000369	HP:0000369	Low-set ears	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0000369	HP:0000369	Low-set ears	0	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0000369	HP:0000369	Low-set ears	0	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0000369	HP:0000369	Low-set ears	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D	.
HP:0000369	HP:0000369	Low-set ears	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2		96
HP:0000369	HP:0000369	Low-set ears	0	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.	135
HP:0000369	HP:0000369	Low-set ears	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome		81
HP:0000369	HP:0000369	Low-set ears	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000369	HP:0000369	Low-set ears	0	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia	HP:0040281 - Very frequent	35
HP:0000369	HP:0000369	Low-set ears	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	.	35
HP:0000369	HP:0000369	Low-set ears	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0000369	HP:0000369	Low-set ears	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0000369	HP:0000369	Low-set ears	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0000369	HP:0000369	Low-set ears	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	114
HP:0000369	HP:0000369	Low-set ears	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0000369	HP:0000369	Low-set ears	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040282 - Frequent	1361
HP:0000369	HP:0000369	Low-set ears	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040281 - Very frequent	1361
HP:0000369	HP:0000369	Low-set ears	0	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	.	7
HP:0000369	HP:0000369	Low-set ears	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000369	HP:0000369	Low-set ears	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome		62
HP:0000369	HP:0000369	Low-set ears	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	17
HP:0000369	HP:0000369	Low-set ears	0	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent	2
HP:0000369	HP:0000369	Low-set ears	0	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome	.	172
HP:0000369	HP:0000369	Low-set ears	0	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome		172
HP:0000369	HP:0000369	Low-set ears	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.	172
HP:0000369	HP:0000369	Low-set ears	0	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040282 - Frequent	172
HP:0000369	HP:0000369	Low-set ears	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0000369	HP:0000369	Low-set ears	0	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome	.	175
HP:0000369	HP:0000369	Low-set ears	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040281 - Very frequent	175
HP:0000369	HP:0000369	Low-set ears	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	175
HP:0000369	HP:0000369	Low-set ears	0	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040282 - Frequent	175
HP:0000369	HP:0000369	Low-set ears	0	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040282 - Frequent	175
HP:0000369	HP:0000369	Low-set ears	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040282 - Frequent	175
HP:0000369	HP:0000369	Low-set ears	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0000369	HP:0000369	Low-set ears	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	175
HP:0000369	HP:0000369	Low-set ears	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	145
HP:0000369	HP:0000369	Low-set ears	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	145
HP:0000369	HP:0000369	Low-set ears	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.	68
HP:0000369	HP:0000369	Low-set ears	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0000369	HP:0000369	Low-set ears	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0000369	HP:0000369	Low-set ears	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000369	HP:0000369	Low-set ears	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0000369	HP:0000369	Low-set ears	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	157
HP:0000369	HP:0000369	Low-set ears	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0000369	HP:0000369	Low-set ears	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	184
HP:0000369	HP:0000369	Low-set ears	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome		8
HP:0000369	HP:0000369	Low-set ears	0	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	.	493
HP:0000369	HP:0000369	Low-set ears	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040281 - Very frequent	493
HP:0000369	HP:0000369	Low-set ears	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0000369	HP:0000369	Low-set ears	0	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia	.	493
HP:0000369	HP:0000369	Low-set ears	0	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I	HP:0040283 - Occasional	233
HP:0000369	HP:0000369	Low-set ears	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0000369	HP:0000369	Low-set ears	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0000369	HP:0000369	Low-set ears	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040282 - Frequent	92
HP:0000369	HP:0000369	Low-set ears	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0000369	HP:0000369	Low-set ears	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0000369	HP:0000369	Low-set ears	0	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0000369	HP:0000369	Low-set ears	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0000369	HP:0000369	Low-set ears	0	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia	.	1
HP:0000369	HP:0000369	Low-set ears	0	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome		1
HP:0000369	HP:0000369	Low-set ears	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0000369	HP:0000369	Low-set ears	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome		10
HP:0000369	HP:0000369	Low-set ears	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0000369	HP:0000369	Low-set ears	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000369	HP:0000369	Low-set ears	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	29
HP:0000369	HP:0000369	Low-set ears	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040282 - Frequent	87
HP:0000369	HP:0000369	Low-set ears	0	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0000369	HP:0000369	Low-set ears	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0000369	HP:0000369	Low-set ears	0	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent	1
HP:0000369	HP:0000369	Low-set ears	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.	68
HP:0000369	HP:0000369	Low-set ears	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0000369	HP:0000369	Low-set ears	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0000369	HP:0000369	Low-set ears	0	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.	13
HP:0000369	HP:0000369	Low-set ears	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040283 - Occasional	120
HP:0000369	HP:0000369	Low-set ears	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.	45
HP:0000369	HP:0000369	Low-set ears	0	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1		45
HP:0000369	HP:0000369	Low-set ears	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0000369	HP:0000369	Low-set ears	0	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	.	143
HP:0000369	HP:0000369	Low-set ears	0	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0000369	HP:0000369	Low-set ears	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	3
HP:0000369	HP:0000369	Low-set ears	0	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome		2
HP:0000369	HP:0000369	Low-set ears	0	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1	.	2
HP:0000369	HP:0000369	Low-set ears	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000369	HP:0000369	Low-set ears	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA	.	173
HP:0000369	HP:0000369	Low-set ears	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent	173
HP:0000369	HP:0000369	Low-set ears	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.	69
HP:0000369	HP:0000369	Low-set ears	0	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0000369	HP:0000369	Low-set ears	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	8
HP:0000369	HP:0000369	Low-set ears	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0000369	HP:0000369	Low-set ears	0	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome	.
HP:0000369	HP:0000369	Low-set ears	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0000369	HP:0000369	Low-set ears	0	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia	HP:0040281 - Very frequent	99
HP:0000369	HP:0000369	Low-set ears	0	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome	HP:0040282 - Frequent
HP:0000369	HP:0000369	Low-set ears	0	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49		4
HP:0000369	HP:0000369	Low-set ears	0	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	HP:0040282 - Frequent	4
HP:0000369	HP:0000369	Low-set ears	0	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent
HP:0000369	HP:0000369	Low-set ears	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0000369	HP:0000369	Low-set ears	0	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0000369	HP:0000369	Low-set ears	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0000369	HP:0000369	Low-set ears	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0000369	HP:0000369	Low-set ears	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0000369	HP:0000369	Low-set ears	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome	.
HP:0000369	HP:0000369	Low-set ears	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000369	HP:0000369	Low-set ears	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000369	HP:0000369	Low-set ears	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000369	HP:0000369	Low-set ears	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000369	HP:0000369	Low-set ears	0	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		200
HP:0000369	HP:0000369	Low-set ears	0	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		88
HP:0000369	HP:0000369	Low-set ears	0	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	.	2
HP:0000369	HP:0000369	Low-set ears	0	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	HP:0040281 - Very frequent	2
HP:0000369	HP:0000369	Low-set ears	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0000369	HP:0000369	Low-set ears	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0000369	HP:0000369	Low-set ears	0	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	6
HP:0000369	HP:0000369	Low-set ears	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.	16
HP:0000369	HP:0000369	Low-set ears	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome		16
HP:0000369	HP:0000369	Low-set ears	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		10
HP:0000369	HP:0000369	Low-set ears	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	3
HP:0000369	HP:0000369	Low-set ears	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent	2
HP:0000369	HP:0000369	Low-set ears	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0000369	HP:0000369	Low-set ears	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000369	HP:0000369	Low-set ears	0	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3	HP:0040283 - Occasional	2
HP:0000369	HP:0000369	Low-set ears	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association		25
HP:0000369	HP:0000369	Low-set ears	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0000369	HP:0000369	Low-set ears	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome		113
HP:0000369	HP:0000369	Low-set ears	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000369	HP:0000369	Low-set ears	0	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome	.
HP:0000369	HP:0000369	Low-set ears	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0000369	HP:0000369	Low-set ears	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome		345
HP:0000369	HP:0000369	Low-set ears	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional	345
HP:0000369	HP:0000369	Low-set ears	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0000369	HP:0000369	Low-set ears	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0000369	HP:0000369	Low-set ears	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0000369	HP:0000369	Low-set ears	0	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus	HP:0040282 - Frequent	31
HP:0000369	HP:0000369	Low-set ears	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0000369	HP:0000369	Low-set ears	0	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	31
HP:0000369	HP:0000369	Low-set ears	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	28
HP:0000369	HP:0000369	Low-set ears	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0000369	HP:0000369	Low-set ears	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0000369	HP:0000369	Low-set ears	0	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome		48
HP:0000369	HP:0000369	Low-set ears	0	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome		1
HP:0000369	HP:0000369	Low-set ears	0	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly	.	4
HP:0000369	HP:0000369	Low-set ears	0	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome		3
HP:0000369	HP:0000369	Low-set ears	0	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly		2
HP:0000369	HP:0000369	Low-set ears	0	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	HP:0040281 - Very frequent	5
HP:0000369	HP:0000369	Low-set ears	0	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0000369	HP:0000369	Low-set ears	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.	268
HP:0000369	HP:0000369	Low-set ears	0	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies	.	9
HP:0000369	HP:0000369	Low-set ears	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent	9
HP:0000369	HP:0000369	Low-set ears	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0000369	HP:0000369	Low-set ears	0	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	111
HP:0000369	HP:0000369	Low-set ears	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0000369	HP:0000369	Low-set ears	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	111
HP:0000369	HP:0000369	Low-set ears	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect		111
HP:0000369	HP:0000369	Low-set ears	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0000369	HP:0000369	Low-set ears	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.	229
HP:0000369	HP:0000369	Low-set ears	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040283 - Occasional	229
HP:0000369	HP:0000369	Low-set ears	0	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000369	HP:0000369	Low-set ears	0	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0000369	HP:0000369	Low-set ears	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0000369	HP:0000369	Low-set ears	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000369	HP:0000369	Low-set ears	0	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	.
HP:0000369	HP:0000369	Low-set ears	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.	4
HP:0000369	HP:0000369	Low-set ears	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0000369	HP:0000369	Low-set ears	0	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency		3
HP:0000369	HP:0000369	Low-set ears	0	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent	4
HP:0000369	HP:0000369	Low-set ears	0	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1	.	4
HP:0000369	HP:0000369	Low-set ears	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0000369	HP:0000369	Low-set ears	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	2
HP:0000369	HP:0000369	Low-set ears	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0000369	HP:0000369	Low-set ears	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000369	HP:0000369	Low-set ears	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome		34
HP:0000369	HP:0000369	Low-set ears	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040281 - Very frequent	141
HP:0000369	HP:0000369	Low-set ears	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040282 - Frequent	141
HP:0000369	HP:0000369	Low-set ears	0	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant	.	141
HP:0000369	HP:0000369	Low-set ears	0	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000369	HP:0000369	Low-set ears	0	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent	10
HP:0000369	HP:0000369	Low-set ears	0	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000369	HP:0000369	Low-set ears	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome		1
HP:0000369	HP:0000369	Low-set ears	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0000369	HP:0000369	Low-set ears	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0000369	HP:0000369	Low-set ears	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	193
HP:0000369	HP:0000369	Low-set ears	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	128
HP:0000369	HP:0000369	Low-set ears	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	.
HP:0000369	HP:0000369	Low-set ears	0	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.	11
HP:0000369	HP:0000369	Low-set ears	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000369	HP:0000369	Low-set ears	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0000369	HP:0000369	Low-set ears	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0000369	HP:0000369	Low-set ears	0	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	24
HP:0000369	HP:0000369	Low-set ears	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0000369	HP:0000369	Low-set ears	0	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	.	24
HP:0000369	HP:0000369	Low-set ears	0	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38		4
HP:0000369	HP:0000369	Low-set ears	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6		4
HP:0000369	HP:0000369	Low-set ears	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0000369	HP:0000369	Low-set ears	0	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12	HP:0040283 - Occasional	9
HP:0000369	HP:0000369	Low-set ears	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0000369	HP:0000369	Low-set ears	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome	.	167
HP:0000369	HP:0000369	Low-set ears	0	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome		167
HP:0000369	HP:0000369	Low-set ears	0	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus	HP:0040282 - Frequent	167
HP:0000369	HP:0000369	Low-set ears	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6		167
HP:0000369	HP:0000369	Low-set ears	0	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome	.
HP:0000369	HP:0000369	Low-set ears	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	28
HP:0000369	HP:0000369	Low-set ears	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional	13
HP:0000369	HP:0000369	Low-set ears	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	13
HP:0000369	HP:0000369	Low-set ears	0	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.	91
HP:0000369	HP:0000369	Low-set ears	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040283 - Occasional	91
HP:0000369	HP:0000369	Low-set ears	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0000369	HP:0000369	Low-set ears	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0000369	HP:0000369	Low-set ears	0	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2	.	196
HP:0000369	HP:0000369	Low-set ears	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome		196
HP:0000369	HP:0000369	Low-set ears	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0000369	HP:0000369	Low-set ears	0	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2	.	5
HP:0000369	HP:0000369	Low-set ears	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0000369	HP:0000369	Low-set ears	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	136
HP:0000369	HP:0000369	Low-set ears	0	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome	.	16
HP:0000369	HP:0000369	Low-set ears	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040282 - Frequent	16
HP:0000369	HP:0000369	Low-set ears	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0000369	HP:0000369	Low-set ears	0	LETM1 CL E G H	3954	6556	OMIM:620089			2
HP:0000369	HP:0000369	Low-set ears	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0000369	HP:0000369	Low-set ears	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		13
HP:0000369	HP:0000369	Low-set ears	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0000369	HP:0000369	Low-set ears	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0000369	HP:0000369	Low-set ears	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000369	HP:0000369	Low-set ears	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type	.	46
HP:0000369	HP:0000369	Low-set ears	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0000369	HP:0000369	Low-set ears	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	11
HP:0000369	HP:0000369	Low-set ears	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	165
HP:0000369	HP:0000369	Low-set ears	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0000369	HP:0000369	Low-set ears	0	LRRC8A CL E G H	56262	19027	OMIM:613506	Agammaglobulinemia 5, autosomal dominant	.	3
HP:0000369	HP:0000369	Low-set ears	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0000369	HP:0000369	Low-set ears	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000369	HP:0000369	Low-set ears	0	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome		4
HP:0000369	HP:0000369	Low-set ears	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome		43
HP:0000369	HP:0000369	Low-set ears	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0000369	HP:0000369	Low-set ears	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0000369	HP:0000369	Low-set ears	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0000369	HP:0000369	Low-set ears	0	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation		2
HP:0000369	HP:0000369	Low-set ears	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0000369	HP:0000369	Low-set ears	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent	21
HP:0000369	HP:0000369	Low-set ears	0	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome	.	21
HP:0000369	HP:0000369	Low-set ears	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.	63
HP:0000369	HP:0000369	Low-set ears	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040282 - Frequent	93
HP:0000369	HP:0000369	Low-set ears	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0000369	HP:0000369	Low-set ears	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0000369	HP:0000369	Low-set ears	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0000369	HP:0000369	Low-set ears	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0000369	HP:0000369	Low-set ears	0	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome		178
HP:0000369	HP:0000369	Low-set ears	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0000369	HP:0000369	Low-set ears	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	HP:0040283 - Occasional	11
HP:0000369	HP:0000369	Low-set ears	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0000369	HP:0000369	Low-set ears	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	.
HP:0000369	HP:0000369	Low-set ears	0	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs		4
HP:0000369	HP:0000369	Low-set ears	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	.	4
HP:0000369	HP:0000369	Low-set ears	0	MARS2 CL E G H	92935	25133	OMIM:616430	Combined oxidative phosphorylation deficiency 25	.	25
HP:0000369	HP:0000369	Low-set ears	0	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040283 - Occasional	21
HP:0000369	HP:0000369	Low-set ears	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.	252
HP:0000369	HP:0000369	Low-set ears	0	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040281 - Very frequent	22
HP:0000369	HP:0000369	Low-set ears	0	MCM5 CL E G H	4174	6948	OMIM:617564	Meier-Gorlin syndrome 8	.	2
HP:0000369	HP:0000369	Low-set ears	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent	3
HP:0000369	HP:0000369	Low-set ears	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type	.	950
HP:0000369	HP:0000369	Low-set ears	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.	228
HP:0000369	HP:0000369	Low-set ears	0	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional	228
HP:0000369	HP:0000369	Low-set ears	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0000369	HP:0000369	Low-set ears	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040282 - Frequent	74
HP:0000369	HP:0000369	Low-set ears	0	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects		74
HP:0000369	HP:0000369	Low-set ears	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0000369	HP:0000369	Low-set ears	0	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0000369	HP:0000369	Low-set ears	0	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20	.	132
HP:0000369	HP:0000369	Low-set ears	0	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion		1
HP:0000369	HP:0000369	Low-set ears	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	.	13
HP:0000369	HP:0000369	Low-set ears	0	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome	HP:0040283 - Occasional	7
HP:0000369	HP:0000369	Low-set ears	0	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation	.	7
HP:0000369	HP:0000369	Low-set ears	0	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000369	HP:0000369	Low-set ears	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0000369	HP:0000369	Low-set ears	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0000369	HP:0000369	Low-set ears	0	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000369	HP:0000369	Low-set ears	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG		39
HP:0000369	HP:0000369	Low-set ears	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0000369	HP:0000369	Low-set ears	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0000369	HP:0000369	Low-set ears	0	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16		3
HP:0000369	HP:0000369	Low-set ears	0	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome		69
HP:0000369	HP:0000369	Low-set ears	0	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome		127
HP:0000369	HP:0000369	Low-set ears	0	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	127
HP:0000369	HP:0000369	Low-set ears	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect		127
HP:0000369	HP:0000369	Low-set ears	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0000369	HP:0000369	Low-set ears	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0000369	HP:0000369	Low-set ears	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0000369	HP:0000369	Low-set ears	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040284 - Very rare	101
HP:0000369	HP:0000369	Low-set ears	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0000369	HP:0000369	Low-set ears	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000369	HP:0000369	Low-set ears	0	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID		1
HP:0000369	HP:0000369	Low-set ears	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0000369	HP:0000369	Low-set ears	0	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0000369	HP:0000369	Low-set ears	0	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45		11
HP:0000369	HP:0000369	Low-set ears	0	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38	.
HP:0000369	HP:0000369	Low-set ears	0	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2	.	60
HP:0000369	HP:0000369	Low-set ears	0	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0000369	HP:0000369	Low-set ears	0	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5	.	25
HP:0000369	HP:0000369	Low-set ears	0	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000369	HP:0000369	Low-set ears	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000369	HP:0000369	Low-set ears	0	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly	HP:0040283 - Occasional	183
HP:0000369	HP:0000369	Low-set ears	0	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria		150
HP:0000369	HP:0000369	Low-set ears	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0000369	HP:0000369	Low-set ears	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.	35
HP:0000369	HP:0000369	Low-set ears	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	166
HP:0000369	HP:0000369	Low-set ears	0	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A		166
HP:0000369	HP:0000369	Low-set ears	0	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0000369	HP:0000369	Low-set ears	0	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5
HP:0000369	HP:0000369	Low-set ears	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare
HP:0000369	HP:0000369	Low-set ears	0	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000369	HP:0000369	Low-set ears	0	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4	.
HP:0000369	HP:0000369	Low-set ears	0	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type		23
HP:0000369	HP:0000369	Low-set ears	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.	23
HP:0000369	HP:0000369	Low-set ears	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0000369	HP:0000369	Low-set ears	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional	23
HP:0000369	HP:0000369	Low-set ears	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000369	HP:0000369	Low-set ears	0	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	.	48
HP:0000369	HP:0000369	Low-set ears	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome		48
HP:0000369	HP:0000369	Low-set ears	0	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0000369	HP:0000369	Low-set ears	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0000369	HP:0000369	Low-set ears	0	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent	96
HP:0000369	HP:0000369	Low-set ears	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional	745
HP:0000369	HP:0000369	Low-set ears	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.	745
HP:0000369	HP:0000369	Low-set ears	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	745
HP:0000369	HP:0000369	Low-set ears	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10		9
HP:0000369	HP:0000369	Low-set ears	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0000369	HP:0000369	Low-set ears	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040282 - Frequent	43
HP:0000369	HP:0000369	Low-set ears	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional	43
HP:0000369	HP:0000369	Low-set ears	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040284 - Very rare	1952
HP:0000369	HP:0000369	Low-set ears	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0000369	HP:0000369	Low-set ears	0	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome		1952
HP:0000369	HP:0000369	Low-set ears	0	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome		1952
HP:0000369	HP:0000369	Low-set ears	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.	12
HP:0000369	HP:0000369	Low-set ears	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040282 - Frequent	40
HP:0000369	HP:0000369	Low-set ears	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0000369	HP:0000369	Low-set ears	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0000369	HP:0000369	Low-set ears	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0000369	HP:0000369	Low-set ears	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0000369	HP:0000369	Low-set ears	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional	138
HP:0000369	HP:0000369	Low-set ears	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0000369	HP:0000369	Low-set ears	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040281 - Very frequent	144
HP:0000369	HP:0000369	Low-set ears	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.	144
HP:0000369	HP:0000369	Low-set ears	0	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome		85
HP:0000369	HP:0000369	Low-set ears	0	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect		85
HP:0000369	HP:0000369	Low-set ears	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome		102
HP:0000369	HP:0000369	Low-set ears	0	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6		102
HP:0000369	HP:0000369	Low-set ears	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0000369	HP:0000369	Low-set ears	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome		544
HP:0000369	HP:0000369	Low-set ears	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0000369	HP:0000369	Low-set ears	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0000369	HP:0000369	Low-set ears	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0000369	HP:0000369	Low-set ears	0	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000369	HP:0000369	Low-set ears	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0000369	HP:0000369	Low-set ears	0	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4	.
HP:0000369	HP:0000369	Low-set ears	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0000369	HP:0000369	Low-set ears	0	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.	2
HP:0000369	HP:0000369	Low-set ears	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.	23
HP:0000369	HP:0000369	Low-set ears	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0000369	HP:0000369	Low-set ears	0	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10		201
HP:0000369	HP:0000369	Low-set ears	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.	201
HP:0000369	HP:0000369	Low-set ears	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6		201
HP:0000369	HP:0000369	Low-set ears	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0000369	HP:0000369	Low-set ears	0	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106		4
HP:0000369	HP:0000369	Low-set ears	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	53
HP:0000369	HP:0000369	Low-set ears	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0000369	HP:0000369	Low-set ears	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	21
HP:0000369	HP:0000369	Low-set ears	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	39
HP:0000369	HP:0000369	Low-set ears	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0000369	HP:0000369	Low-set ears	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0000369	HP:0000369	Low-set ears	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000369	HP:0000369	Low-set ears	0	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040282 - Frequent	4
HP:0000369	HP:0000369	Low-set ears	0	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	.	4
HP:0000369	HP:0000369	Low-set ears	0	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		41
HP:0000369	HP:0000369	Low-set ears	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040282 - Frequent	24
HP:0000369	HP:0000369	Low-set ears	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome		24
HP:0000369	HP:0000369	Low-set ears	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040282 - Frequent	231
HP:0000369	HP:0000369	Low-set ears	0	PAICS CL E G H	10606	8587	OMIM:619859
HP:0000369	HP:0000369	Low-set ears	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.	1
HP:0000369	HP:0000369	Low-set ears	0	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0000369	HP:0000369	Low-set ears	0	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000369	HP:0000369	Low-set ears	0	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	.	3
HP:0000369	HP:0000369	Low-set ears	0	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000369	HP:0000369	Low-set ears	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0000369	HP:0000369	Low-set ears	0	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.	6
HP:0000369	HP:0000369	Low-set ears	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040282 - Frequent	531
HP:0000369	HP:0000369	Low-set ears	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6		1
HP:0000369	HP:0000369	Low-set ears	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000369	HP:0000369	Low-set ears	0	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0000369	HP:0000369	Low-set ears	0	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy		169
HP:0000369	HP:0000369	Low-set ears	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0000369	HP:0000369	Low-set ears	0	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy		75
HP:0000369	HP:0000369	Low-set ears	0	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)	.	75
HP:0000369	HP:0000369	Low-set ears	0	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy		4
HP:0000369	HP:0000369	Low-set ears	0	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy		65
HP:0000369	HP:0000369	Low-set ears	0	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)	.	65
HP:0000369	HP:0000369	Low-set ears	0	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy		66
HP:0000369	HP:0000369	Low-set ears	0	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy		46
HP:0000369	HP:0000369	Low-set ears	0	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy		59
HP:0000369	HP:0000369	Low-set ears	0	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy		62
HP:0000369	HP:0000369	Low-set ears	0	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy		82
HP:0000369	HP:0000369	Low-set ears	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.	82
HP:0000369	HP:0000369	Low-set ears	0	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy		106
HP:0000369	HP:0000369	Low-set ears	0	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)	.	106
HP:0000369	HP:0000369	Low-set ears	0	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy		47
HP:0000369	HP:0000369	Low-set ears	0	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B	.	47
HP:0000369	HP:0000369	Low-set ears	0	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy		99
HP:0000369	HP:0000369	Low-set ears	0	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B	.	99
HP:0000369	HP:0000369	Low-set ears	0	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy		98
HP:0000369	HP:0000369	Low-set ears	0	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70		1
HP:0000369	HP:0000369	Low-set ears	0	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	.	86
HP:0000369	HP:0000369	Low-set ears	0	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	4
HP:0000369	HP:0000369	Low-set ears	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040281 - Very frequent	77
HP:0000369	HP:0000369	Low-set ears	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0000369	HP:0000369	Low-set ears	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000369	HP:0000369	Low-set ears	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0000369	HP:0000369	Low-set ears	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0000369	HP:0000369	Low-set ears	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.	37
HP:0000369	HP:0000369	Low-set ears	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional	12
HP:0000369	HP:0000369	Low-set ears	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.	12
HP:0000369	HP:0000369	Low-set ears	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000369	HP:0000369	Low-set ears	0	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF		8
HP:0000369	HP:0000369	Low-set ears	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040284 - Very rare	563
HP:0000369	HP:0000369	Low-set ears	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	.	3
HP:0000369	HP:0000369	Low-set ears	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder		3
HP:0000369	HP:0000369	Low-set ears	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent	3
HP:0000369	HP:0000369	Low-set ears	0	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome		82
HP:0000369	HP:0000369	Low-set ears	0	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2	.	82
HP:0000369	HP:0000369	Low-set ears	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0000369	HP:0000369	Low-set ears	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.	5
HP:0000369	HP:0000369	Low-set ears	0	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type	.
HP:0000369	HP:0000369	Low-set ears	0	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome		103
HP:0000369	HP:0000369	Low-set ears	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis		10
HP:0000369	HP:0000369	Low-set ears	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.	35
HP:0000369	HP:0000369	Low-set ears	0	POLE CL E G H	5426	9177	ORPHA:85173	IMAGe syndrome	HP:0040281 - Very frequent	1129
HP:0000369	HP:0000369	Low-set 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:0000369	HP:0000369	Low-set ears	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0000369	HP:0000369	Low-set ears	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0000369	HP:0000369	Low-set ears	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	180
HP:0000369	HP:0000369	Low-set ears	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	33
HP:0000369	HP:0000369	Low-set ears	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	18
HP:0000369	HP:0000369	Low-set ears	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0000369	HP:0000369	Low-set ears	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	213
HP:0000369	HP:0000369	Low-set ears	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0000369	HP:0000369	Low-set ears	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	221
HP:0000369	HP:0000369	Low-set ears	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0000369	HP:0000369	Low-set ears	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent	20
HP:0000369	HP:0000369	Low-set ears	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0000369	HP:0000369	Low-set ears	0	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0000369	HP:0000369	Low-set ears	0	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	.	22
HP:0000369	HP:0000369	Low-set ears	0	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair		9
HP:0000369	HP:0000369	Low-set ears	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0000369	HP:0000369	Low-set ears	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000369	HP:0000369	Low-set ears	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000369	HP:0000369	Low-set ears	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0000369	HP:0000369	Low-set ears	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040283 - Occasional	10
HP:0000369	HP:0000369	Low-set ears	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome		148
HP:0000369	HP:0000369	Low-set ears	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0000369	HP:0000369	Low-set ears	0	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome		7
HP:0000369	HP:0000369	Low-set ears	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0000369	HP:0000369	Low-set ears	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000369	HP:0000369	Low-set ears	0	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities	HP:0040283 - Occasional	42
HP:0000369	HP:0000369	Low-set ears	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0000369	HP:0000369	Low-set ears	0	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0000369	HP:0000369	Low-set ears	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040282 - Frequent	49
HP:0000369	HP:0000369	Low-set ears	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0000369	HP:0000369	Low-set ears	0	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		4
HP:0000369	HP:0000369	Low-set ears	0	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex		4
HP:0000369	HP:0000369	Low-set ears	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0000369	HP:0000369	Low-set ears	0	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2	.	27
HP:0000369	HP:0000369	Low-set ears	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0000369	HP:0000369	Low-set ears	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent	665
HP:0000369	HP:0000369	Low-set ears	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	948
HP:0000369	HP:0000369	Low-set ears	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0000369	HP:0000369	Low-set ears	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	.	22
HP:0000369	HP:0000369	Low-set ears	0	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	HP:0040281 - Very frequent	22
HP:0000369	HP:0000369	Low-set ears	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040281 - Very frequent	58
HP:0000369	HP:0000369	Low-set ears	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.	291
HP:0000369	HP:0000369	Low-set ears	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome		291
HP:0000369	HP:0000369	Low-set ears	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0000369	HP:0000369	Low-set ears	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines		291
HP:0000369	HP:0000369	Low-set ears	0	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47	.	1
HP:0000369	HP:0000369	Low-set ears	0	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	HP:0040283 - Occasional	53
HP:0000369	HP:0000369	Low-set ears	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	.
HP:0000369	HP:0000369	Low-set ears	0	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.	11
HP:0000369	HP:0000369	Low-set ears	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040282 - Frequent	11
HP:0000369	HP:0000369	Low-set ears	0	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	.
HP:0000369	HP:0000369	Low-set ears	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0000369	HP:0000369	Low-set ears	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome		85
HP:0000369	HP:0000369	Low-set ears	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0000369	HP:0000369	Low-set ears	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome		90
HP:0000369	HP:0000369	Low-set ears	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome		90
HP:0000369	HP:0000369	Low-set ears	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1		90
HP:0000369	HP:0000369	Low-set ears	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome		135
HP:0000369	HP:0000369	Low-set ears	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0000369	HP:0000369	Low-set ears	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome		135
HP:0000369	HP:0000369	Low-set ears	0	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0000369	HP:0000369	Low-set ears	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48	.	3
HP:0000369	HP:0000369	Low-set ears	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0000369	HP:0000369	Low-set ears	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0000369	HP:0000369	Low-set ears	0	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2		212
HP:0000369	HP:0000369	Low-set ears	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome		212
HP:0000369	HP:0000369	Low-set ears	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5		212
HP:0000369	HP:0000369	Low-set ears	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines		212
HP:0000369	HP:0000369	Low-set ears	0	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome		150
HP:0000369	HP:0000369	Low-set ears	0	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000369	HP:0000369	Low-set ears	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0000369	HP:0000369	Low-set ears	0	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2		73
HP:0000369	HP:0000369	Low-set ears	0	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional	9
HP:0000369	HP:0000369	Low-set ears	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome		3
HP:0000369	HP:0000369	Low-set ears	0	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14	HP:0040282 - Frequent	365
HP:0000369	HP:0000369	Low-set ears	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.	16
HP:0000369	HP:0000369	Low-set ears	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome		16
HP:0000369	HP:0000369	Low-set ears	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome		10
HP:0000369	HP:0000369	Low-set ears	0	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0000369	HP:0000369	Low-set ears	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0000369	HP:0000369	Low-set ears	0	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent	334
HP:0000369	HP:0000369	Low-set ears	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome		16
HP:0000369	HP:0000369	Low-set 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:0000369	HP:0000369	Low-set ears	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome		16
HP:0000369	HP:0000369	Low-set ears	0	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent	572
HP:0000369	HP:0000369	Low-set ears	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000369	HP:0000369	Low-set ears	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0000369	HP:0000369	Low-set ears	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		3
HP:0000369	HP:0000369	Low-set ears	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome		39
HP:0000369	HP:0000369	Low-set ears	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0000369	HP:0000369	Low-set ears	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0000369	HP:0000369	Low-set ears	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	33
HP:0000369	HP:0000369	Low-set ears	0	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4	.	33
HP:0000369	HP:0000369	Low-set ears	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	34
HP:0000369	HP:0000369	Low-set ears	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	60
HP:0000369	HP:0000369	Low-set 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:0000369	HP:0000369	Low-set ears	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0000369	HP:0000369	Low-set ears	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0000369	HP:0000369	Low-set ears	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0000369	HP:0000369	Low-set ears	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0000369	HP:0000369	Low-set ears	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0000369	HP:0000369	Low-set ears	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	167
HP:0000369	HP:0000369	Low-set ears	0	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect		167
HP:0000369	HP:0000369	Low-set ears	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0000369	HP:0000369	Low-set ears	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional	10
HP:0000369	HP:0000369	Low-set ears	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0000369	HP:0000369	Low-set ears	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0000369	HP:0000369	Low-set ears	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000369	HP:0000369	Low-set ears	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0000369	HP:0000369	Low-set ears	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0000369	HP:0000369	Low-set ears	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000369	HP:0000369	Low-set ears	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000369	HP:0000369	Low-set ears	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	11
HP:0000369	HP:0000369	Low-set ears	0	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5		11
HP:0000369	HP:0000369	Low-set ears	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	40
HP:0000369	HP:0000369	Low-set ears	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	26
HP:0000369	HP:0000369	Low-set ears	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000369	HP:0000369	Low-set ears	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	5
HP:0000369	HP:0000369	Low-set ears	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	42
HP:0000369	HP:0000369	Low-set ears	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0000369	HP:0000369	Low-set ears	0	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD		2
HP:0000369	HP:0000369	Low-set ears	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0000369	HP:0000369	Low-set ears	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0000369	HP:0000369	Low-set ears	0	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	HP:0040283 - Occasional	20
HP:0000369	HP:0000369	Low-set ears	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0000369	HP:0000369	Low-set ears	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0000369	HP:0000369	Low-set ears	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0000369	HP:0000369	Low-set ears	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0000369	HP:0000369	Low-set ears	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0000369	HP:0000369	Low-set ears	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome		1
HP:0000369	HP:0000369	Low-set ears	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0000369	HP:0000369	Low-set ears	0	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2	.
HP:0000369	HP:0000369	Low-set ears	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0000369	HP:0000369	Low-set ears	0	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.	2
HP:0000369	HP:0000369	Low-set ears	0	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion
HP:0000369	HP:0000369	Low-set ears	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0000369	HP:0000369	Low-set ears	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0000369	HP:0000369	Low-set ears	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional
HP:0000369	HP:0000369	Low-set ears	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0000369	HP:0000369	Low-set ears	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	55
HP:0000369	HP:0000369	Low-set ears	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040282 - Frequent	34
HP:0000369	HP:0000369	Low-set ears	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.	34
HP:0000369	HP:0000369	Low-set ears	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34
HP:0000369	HP:0000369	Low-set ears	0	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0000369	HP:0000369	Low-set ears	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000369	HP:0000369	Low-set ears	0	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0000369	HP:0000369	Low-set ears	0	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome		61
HP:0000369	HP:0000369	Low-set ears	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0000369	HP:0000369	Low-set ears	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0000369	HP:0000369	Low-set ears	0	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p		6
HP:0000369	HP:0000369	Low-set ears	0	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic	.
HP:0000369	HP:0000369	Low-set ears	0	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome	HP:0040283 - Occasional	143
HP:0000369	HP:0000369	Low-set ears	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29	.	143
HP:0000369	HP:0000369	Low-set ears	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0000369	HP:0000369	Low-set ears	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040282 - Frequent	143
HP:0000369	HP:0000369	Low-set ears	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID		6
HP:0000369	HP:0000369	Low-set ears	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040282 - Frequent	43
HP:0000369	HP:0000369	Low-set ears	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0000369	HP:0000369	Low-set ears	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0000369	HP:0000369	Low-set ears	0	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome		49
HP:0000369	HP:0000369	Low-set ears	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0000369	HP:0000369	Low-set ears	0	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair		74
HP:0000369	HP:0000369	Low-set ears	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0000369	HP:0000369	Low-set ears	0	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000369	HP:0000369	Low-set ears	0	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome	HP:0040283 - Occasional	40
HP:0000369	HP:0000369	Low-set ears	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome		150
HP:0000369	HP:0000369	Low-set ears	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0000369	HP:0000369	Low-set ears	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040281 - Very frequent	150
HP:0000369	HP:0000369	Low-set ears	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0000369	HP:0000369	Low-set ears	0	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0000369	HP:0000369	Low-set ears	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	2
HP:0000369	HP:0000369	Low-set ears	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040283 - Occasional	4
HP:0000369	HP:0000369	Low-set ears	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	28
HP:0000369	HP:0000369	Low-set ears	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000369	HP:0000369	Low-set ears	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0000369	HP:0000369	Low-set ears	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040283 - Occasional	166
HP:0000369	HP:0000369	Low-set ears	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia		166
HP:0000369	HP:0000369	Low-set ears	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166
HP:0000369	HP:0000369	Low-set ears	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0000369	HP:0000369	Low-set ears	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040283 - Occasional	11
HP:0000369	HP:0000369	Low-set ears	0	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome		55
HP:0000369	HP:0000369	Low-set ears	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	9
HP:0000369	HP:0000369	Low-set ears	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine		4
HP:0000369	HP:0000369	Low-set ears	0	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0000369	HP:0000369	Low-set ears	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.	504
HP:0000369	HP:0000369	Low-set ears	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0000369	HP:0000369	Low-set ears	0	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0000369	HP:0000369	Low-set ears	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0000369	HP:0000369	Low-set ears	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0000369	HP:0000369	Low-set ears	0	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000369	HP:0000369	Low-set ears	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome	.	2
HP:0000369	HP:0000369	Low-set ears	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.	15
HP:0000369	HP:0000369	Low-set ears	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0000369	HP:0000369	Low-set ears	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040283 - Occasional	19
HP:0000369	HP:0000369	Low-set ears	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	2
HP:0000369	HP:0000369	Low-set ears	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.	6
HP:0000369	HP:0000369	Low-set ears	0	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP		53
HP:0000369	HP:0000369	Low-set ears	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0000369	HP:0000369	Low-set ears	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome	.	12
HP:0000369	HP:0000369	Low-set ears	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome		315
HP:0000369	HP:0000369	Low-set ears	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0000369	HP:0000369	Low-set ears	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome		30
HP:0000369	HP:0000369	Low-set ears	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.	14
HP:0000369	HP:0000369	Low-set ears	0	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10	.
HP:0000369	HP:0000369	Low-set ears	0	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome	.	11
HP:0000369	HP:0000369	Low-set ears	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0000369	HP:0000369	Low-set ears	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109
HP:0000369	HP:0000369	Low-set ears	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040282 - Frequent	109
HP:0000369	HP:0000369	Low-set ears	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040283 - Occasional	66
HP:0000369	HP:0000369	Low-set ears	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040282 - Frequent	6
HP:0000369	HP:0000369	Low-set ears	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome		4
HP:0000369	HP:0000369	Low-set ears	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0000369	HP:0000369	Low-set ears	0	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies	HP:0040283 - Occasional	6
HP:0000369	HP:0000369	Low-set ears	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0000369	HP:0000369	Low-set ears	0	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome		136
HP:0000369	HP:0000369	Low-set ears	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0000369	HP:0000369	Low-set ears	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0000369	HP:0000369	Low-set ears	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0000369	HP:0000369	Low-set ears	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0000369	HP:0000369	Low-set ears	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ	.	80
HP:0000369	HP:0000369	Low-set ears	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0000369	HP:0000369	Low-set ears	0	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	.	14
HP:0000369	HP:0000369	Low-set ears	0	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040283 - Occasional	9
HP:0000369	HP:0000369	Low-set ears	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0000369	HP:0000369	Low-set ears	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.	1
HP:0000369	HP:0000369	Low-set ears	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.	24
HP:0000369	HP:0000369	Low-set ears	0	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional	71
HP:0000369	HP:0000369	Low-set ears	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	HP:0040283 - Occasional	71
HP:0000369	HP:0000369	Low-set ears	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000369	HP:0000369	Low-set ears	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	237
HP:0000369	HP:0000369	Low-set ears	0	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	124
HP:0000369	HP:0000369	Low-set ears	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000369	HP:0000369	Low-set ears	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome		1
HP:0000369	HP:0000369	Low-set ears	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	4
HP:0000369	HP:0000369	Low-set ears	0	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome	HP:0040282 - Frequent	11
HP:0000369	HP:0000369	Low-set ears	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0000369	HP:0000369	Low-set ears	0	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040281 - Very frequent	21
HP:0000369	HP:0000369	Low-set ears	0	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.	34
HP:0000369	HP:0000369	Low-set ears	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000369	HP:0000369	Low-set ears	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0000369	HP:0000369	Low-set ears	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000369	HP:0000369	Low-set ears	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome		15
HP:0000369	HP:0000369	Low-set ears	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent	271
HP:0000369	HP:0000369	Low-set ears	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0000369	HP:0000369	Low-set ears	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.	52
HP:0000369	HP:0000369	Low-set ears	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome		52
HP:0000369	HP:0000369	Low-set ears	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000369	HP:0000369	Low-set ears	0	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome		1
HP:0000369	HP:0000369	Low-set ears	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	32
HP:0000369	HP:0000369	Low-set ears	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0000369	HP:0000369	Low-set ears	0	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040281 - Very frequent	5
HP:0000369	HP:0000369	Low-set ears	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0000369	HP:0000369	Low-set ears	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.	1
HP:0000369	HP:0000369	Low-set ears	0	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	45
HP:0000369	HP:0000369	Low-set ears	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0000369	HP:0000369	Low-set ears	0	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	76
HP:0000369	HP:0000369	Low-set ears	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0000369	HP:0000369	Low-set ears	0	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8	.	76
HP:0000369	HP:0000369	Low-set ears	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0000369	HP:0000369	Low-set ears	0	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV	.	31
HP:0000369	HP:0000369	Low-set ears	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent	31
HP:0000369	HP:0000369	Low-set ears	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6		31
HP:0000369	HP:0000369	Low-set ears	0	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9	.	12
HP:0000369	HP:0000369	Low-set ears	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome		12
HP:0000369	HP:0000369	Low-set ears	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0000369	HP:0000369	Low-set ears	0	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome	.	104
HP:0000369	HP:0000369	Low-set ears	0	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome		6
HP:0000369	HP:0000369	Low-set ears	0	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome	.	6
HP:0000369	HP:0000369	Low-set ears	0	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0000369	HP:0000369	Low-set ears	0	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia		6
HP:0000369	HP:0000369	Low-set ears	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0000369	HP:0000369	Low-set ears	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0000369	HP:0000369	Low-set ears	0	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI	.	4
HP:0000369	HP:0000369	Low-set ears	0	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect		39
HP:0000369	HP:0000369	Low-set ears	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000369	HP:0000369	Low-set ears	0	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK	.	24
HP:0000369	HP:0000369	Low-set ears	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.	45
HP:0000369	HP:0000369	Low-set ears	0	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect		45
HP:0000369	HP:0000369	Low-set ears	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0000369	HP:0000369	Low-set ears	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6		45
HP:0000369	HP:0000369	Low-set ears	0	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000369	HP:0000369	Low-set ears	0	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect		33
HP:0000369	HP:0000369	Low-set ears	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0000369	HP:0000369	Low-set ears	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent	33
HP:0000369	HP:0000369	Low-set ears	0	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	82
HP:0000369	HP:0000369	Low-set ears	0	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.	82
HP:0000369	HP:0000369	Low-set ears	0	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect		82
HP:0000369	HP:0000369	Low-set ears	0	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect		82
HP:0000369	HP:0000369	Low-set ears	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0000369	HP:0000369	Low-set ears	0	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0000369	HP:0000369	Low-set ears	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000369	HP:0000369	Low-set ears	0	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	166
HP:0000369	HP:0000369	Low-set ears	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	166
HP:0000369	HP:0000369	Low-set ears	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0000369	HP:0000369	Low-set ears	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.	63
HP:0000369	HP:0000369	Low-set ears	0	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040281 - Very frequent	63
HP:0000369	HP:0000369	Low-set ears	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.	1
HP:0000369	HP:0000369	Low-set ears	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0000369	HP:0000369	Low-set ears	0	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000369	HP:0000369	Low-set ears	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0000369	HP:0000369	Low-set ears	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6		61
HP:0000369	HP:0000369	Low-set ears	0	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	.	54
HP:0000369	HP:0000369	Low-set ears	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional	108
HP:0000369	HP:0000369	Low-set ears	0	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	.
HP:0000369	HP:0000369	Low-set ears	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	56
HP:0000369	HP:0000369	Low-set ears	0	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome		108
HP:0000369	HP:0000369	Low-set ears	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA		133
HP:0000369	HP:0000369	Low-set ears	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49		2
HP:0000369	HP:0000369	Low-set ears	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0000369	HP:0000369	Low-set ears	0	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3		2
HP:0000369	HP:0000369	Low-set ears	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2		171
HP:0000369	HP:0000369	Low-set ears	0	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia		214
HP:0000369	HP:0000369	Low-set ears	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0000369	HP:0000369	Low-set ears	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0000369	HP:0000369	Low-set ears	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000369	HP:0000369	Low-set ears	0	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000369	HP:0000369	Low-set ears	0	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome		41
HP:0000369	HP:0000369	Low-set ears	0	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs		14
HP:0000369	HP:0000369	Low-set ears	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	.	14
HP:0000369	HP:0000369	Low-set ears	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional	64
HP:0000369	HP:0000369	Low-set ears	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	18
HP:0000369	HP:0000369	Low-set ears	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18
HP:0000369	HP:0000369	Low-set ears	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.	18
HP:0000369	HP:0000369	Low-set ears	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0000369	HP:0000369	Low-set ears	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome	.	7
HP:0000369	HP:0000369	Low-set ears	0	TXNDC15 CL E G H	79770	20652	OMIM:619879			2
HP:0000369	HP:0000369	Low-set ears	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0000369	HP:0000369	Low-set ears	0	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0000369	HP:0000369	Low-set ears	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0000369	HP:0000369	Low-set ears	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000369	HP:0000369	Low-set ears	0	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS		1
HP:0000369	HP:0000369	Low-set ears	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0000369	HP:0000369	Low-set ears	0	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000369	HP:0000369	Low-set ears	0	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria		135
HP:0000369	HP:0000369	Low-set ears	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	.	23
HP:0000369	HP:0000369	Low-set ears	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome		23
HP:0000369	HP:0000369	Low-set ears	0	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional	33
HP:0000369	HP:0000369	Low-set ears	0	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome		2
HP:0000369	HP:0000369	Low-set ears	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	.	27
HP:0000369	HP:0000369	Low-set ears	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27
HP:0000369	HP:0000369	Low-set ears	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0000369	HP:0000369	Low-set ears	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	2
HP:0000369	HP:0000369	Low-set ears	0	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly	HP:0040283 - Occasional	2
HP:0000369	HP:0000369	Low-set ears	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	.
HP:0000369	HP:0000369	Low-set ears	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.	27
HP:0000369	HP:0000369	Low-set ears	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.	63
HP:0000369	HP:0000369	Low-set ears	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000369	HP:0000369	Low-set ears	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional	2
HP:0000369	HP:0000369	Low-set ears	0	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43		25
HP:0000369	HP:0000369	Low-set ears	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent	83
HP:0000369	HP:0000369	Low-set ears	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0000369	HP:0000369	Low-set ears	0	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000369	HP:0000369	Low-set ears	0	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome		60
HP:0000369	HP:0000369	Low-set ears	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0000369	HP:0000369	Low-set ears	0	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000369	HP:0000369	Low-set ears	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.	14
HP:0000369	HP:0000369	Low-set ears	0	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive	.	12
HP:0000369	HP:0000369	Low-set ears	0	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs	.	4
HP:0000369	HP:0000369	Low-set ears	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98
HP:0000369	HP:0000369	Low-set ears	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0000369	HP:0000369	Low-set ears	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency	.	13
HP:0000369	HP:0000369	Low-set ears	0	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent
HP:0000369	HP:0000369	Low-set ears	0	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome		14
HP:0000369	HP:0000369	Low-set ears	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040283 - Occasional	5
HP:0000369	HP:0000369	Low-set ears	0	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome	.	5
HP:0000369	HP:0000369	Low-set ears	0	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040282 - Frequent	14
HP:0000369	HP:0000369	Low-set ears	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7
HP:0000369	HP:0000369	Low-set ears	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0000369	HP:0000369	Low-set ears	0	ZBTB18 CL E G H	10472	13030	ORPHA:36367	Distal monosomy 1q	HP:0040281 - Very frequent	16
HP:0000369	HP:0000369	Low-set ears	0	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22	.	16
HP:0000369	HP:0000369	Low-set ears	0	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	9
HP:0000369	HP:0000369	Low-set ears	0	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2	.	9
HP:0000369	HP:0000369	Low-set ears	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.	19
HP:0000369	HP:0000369	Low-set ears	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0000369	HP:0000369	Low-set ears	0	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional	10
HP:0000369	HP:0000369	Low-set ears	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0000369	HP:0000369	Low-set ears	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000369	HP:0000369	Low-set ears	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83
HP:0000369	HP:0000369	Low-set ears	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83
HP:0000369	HP:0000369	Low-set ears	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000369	HP:0000369	Low-set ears	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies		4
HP:0000369	HP:0000369	Low-set ears	0	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0000369	HP:0000369	Low-set ears	0	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect		49
HP:0000369	HP:0000369	Low-set ears	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0000369	HP:0000369	Low-set ears	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type	.	34
HP:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3	.	5
HP:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent	9
HP:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0000369	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:0000369	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:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	28
HP:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	34
HP:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	276
HP:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent	85
HP:0000369	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:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	247
HP:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	342
HP:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional
HP:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	515
HP:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040282 - Frequent	52
HP:0000369	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:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent
HP:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	57
HP:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21		20
HP:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040282 - Frequent	72
HP:0000369	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:0000369	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:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	6
HP:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.	20
HP:0000369	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:0000369	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:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome	.	175
HP:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent	8
HP:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	353
HP:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	263
HP:0000369	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:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease	HP:0040282 - Frequent
HP:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	2
HP:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	80
HP:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040283 - Occasional	113
HP:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus	HP:0040282 - Frequent	31
HP:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus	HP:0040282 - Frequent	167
HP:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	196
HP:0000369	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:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	88
HP:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	134
HP:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	178
HP:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0000369	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:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	127
HP:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria	HP:0040282 - Frequent	150
HP:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	84
HP:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	82
HP:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000369	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:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	85
HP:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	90
HP:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	135
HP:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040283 - Occasional	16
HP:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000369	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:0000369	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:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	109
HP:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	167
HP:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0000369	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:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional
HP:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	16
HP:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040283 - Occasional	49
HP:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040282 - Frequent	166
HP:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome	.	136
HP:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	15
HP:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	45
HP:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	76
HP:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	31
HP:0000369	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:0000369	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:0000369	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:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	4
HP:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	45
HP:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	33
HP:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	82
HP:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	166
HP:0000369	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:0000369	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:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia	HP:0040283 - Occasional	214
HP:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	2
HP:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000369	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:0000369	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:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000369	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:0000369	HP:0000368	Low-set, posteriorly rotated ears	1	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent	14
HP:0000369	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:0000369	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 (828) :ACAN ACER3 ACOX1 ACP5 ACTA1 ACTB ACTG2 ADA2 ADAMTS3 ADAR ADAT3 ADGRG6 ADNP ADSL AFF3 AFF4 AGRN AHDC1 AHI1 AIFM1 AKT1 ALDH18A1 ALDH1A2 ALG13 ALG2 ALG6 ALG8 ALG9 ALX1 ALX3 ALX4 AMER1 ANO1 ANTXR1 ANTXR2 AP1G1 AP3B1 AP3D1 ARID1B ARID2 ARL13B ARL3 ARL6 ARMC9 ARVCF ARX ASH1L ASXL1 ASXL2 ASXL3 ATIC ATN1 ATP2B1 ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATR ATRX AUTS2 B3GALNT2 B3GALT6 B3GAT3 B3GLCT B4GALT1 B4GALT7 B4GAT1 B9D1 B9D2 BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL11A BCL7B BCOR BICRA BLTP1 BMP2 BMP4 BMPER BMPR1A BRAF BRCC3 BRD4 BRF1 BUB1 BUB1B BUB3 BUD23 C12ORF57 C2CD3 CACNA1C CAMK2G CAMKMT CAMTA1 CANT1 CASZ1 CAV1 CBL CBY1 CC2D2A CCBE1 CCDC22 CCNK CCNQ CD96 CDC42 CDC42BPB CDC45 CDC6 CDCA7 CDH11 CDH2 CDK10 CDK13 CDKN1C CDT1 CENPF CENPJ CEP104 CEP120 CEP19 CEP290 CEP41 CEP55 CEP57 CFAP418 CHAMP1 CHAT CHD3 CHD4 CHD5 CHD7 CHMP1A CHRNA1 CHRND CHRNG CHST14 CHST3 CHSY1 CHUK CILK1 CLCN3 CLIP2 CNOT1 CNOT2 CNOT3 CNTNAP1 COG1 COG5 COG7 COL11A1 COL11A2 COL13A1 COL2A1 COL4A1 COLEC10 COLEC11 COMT CPLANE1 CPLX1 CPT2 CREBBP CRLF1 CRPPA CSGALNACT1 CSNK2A1 CSPP1 CTBP1 CTCF CTNND2 CTSD CTU2 CWC27 DAG1 DCPS DDB1 DDR2 DDX59 DDX6 DHCR24 DHCR7 DHODH DHPS DHX30 DIS3L2 DLK1 DLL3 DLX4 DNAJC30 DNMT3B DOCK6 DONSON DPF2 DPH1 DPH2 DSE DST DVL1 DVL3 DYNC2LI1 DZIP1L EBF3 EBP EDEM3 EDN1 EDNRA EED EEF1A2 EFEMP2 EFL1 EFTUD2 EIF4A3 EIF4H EIF5A ELN EP300 EPG5 ERCC1 ERCC4 ERCC5 ERMARD ESCO2 EXOC2 EXOC7 EXOSC2 EXOSC9 EXT1 EYA1 EZH2 FAM149B1 FAM20C FANCB FANCD2 FANCL FAT4 FBLN5 FBN1 FBXO11 FDFT1 FGD1 FGF10 FGF20 FGFR1 FGFR2 FGFR3 FHL1 FIG4 FKBP6 FKRP FKTN FLI1 FLNA FLNB FOXF1 FOXL2 FRAS1 FREM1 FREM2 FRMD4A FZD2 GABRD GAD1 GALNT2 GATA1 GATA4 GBA1 GFRA1 GJA1 GJA5 GJA8 GK GLB1 GLE1 GLI3 GLIS3 GLUL GMNN GNAI3 GNB2 GNE GNS GON7 GP1BB GPC3 GPC4 GPC6 GPKOW GPT2 GREB1L GRIP1 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 H3-3A H4C3 H4C5 H4C9 HBA1 HBA2 HDAC6 HDAC8 HEATR3 HELLS HERC1 HES7 HIRA HMGA2 HMX1 HNRNPH1 HOXB1 HOXD13 HRAS HS2ST1 HS6ST2 HSD17B4 HSPG2 HUWE1 HYLS1 IFIH1 IFT122 IFT140 IFT172 IFT27 IFT52 IFT74 IFT81 IGBP1 IGF1R IGF2 IL6ST INPP5E INPPL1 INSR INTS1 INTU IPO8 IREB2 IRX5 ITCH ITGA8 JAG1 JMJD1C KAT5 KAT6A KAT6B KAT8 KATNB1 KATNIP KCNAB2 KCNH1 KCNJ2 KCNJ5 KCNK4 KCTD1 KDM4B KDM6A KIAA0586 KIAA0753 KIF14 KIF15 KIF7 KIFBP KLHL40 KLHL41 KMT2A KMT2D KRAS KYNU LARGE1 LARP7 LBR LETM1 LFNG LIFR LIG4 LIMK1 LMBRD1 LMNA LMOD3 LMX1B LRP2 LRRC8A LSM11 LUZP1 LZTFL1 LZTR1 MAB21L1 MACF1 MADD MAF MAGEL2 MAN1B1 MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPK8IP3 MAPRE2 MARS2 MASP1 MBD5 MBTPS2 MCM5 MCTP2 MECP2 MED12 MED13L MED25 MED27 MEF2C MEG3 MEGF8 MEIS2 MESD MESP2 METTL27 METTL5 MGAT2 MID1 MINPP1 MKKS MKS1 MLXIPL MMACHC MMP23B MN1 MRAS MRPL12 MRPS14 MRPS16 MRPS2 MRPS22 MRPS28 MSL3 MTHFR MVK MYCN MYH3 MYMX MYO18B MYO9A MYOD1 MYSM1 NAA10 NAA20 NALCN NARS1 NCF1 NDE1 NEB NEK9 NELFA NEU1 NF1 NFIA NFIX NGLY1 NIPBL NOTCH2 NOTCH3 NPHP1 NRAS NSD1 NSD2 NSRP1 NSUN2 NTNG2 NUP188 NUP88 NXN OCLN OCRL OFD1 OGT ORC1 ORC4 ORC6 OSGEP OTUD5 OTUD6B OTX2 PACS1 PAFAH1B1 PAICS PAM16 PAX1 PAX7 PBX1 PCDHGC4 PCGF2 PCLO PCNT PDE6D PDPN PDZD8 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHACTR1 PHOX2B PIBF1 PIEZO2 PIGB PIGG PIGN PIGT PIGU PITX1 PKHD1 PLAA PLAG1 PLCB4 PLCH1 PLOD3 PLVAP PNPLA6 POC1A POGZ POLE POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PORCN PPM1B PPM1D PPP1CB PPP1R12A PPP1R21 PPP2R3C PPP2R5D PRDM16 PRDX1 PREPL PRIM1 PRKCZ PRKDC PRKG2 PRPS1 PRR12 PRRX1 PRUNE1 PSAT1 PSMD12 PTCH1 PTEN PTF1A PTH1R PTPN11 PUM1 PURA PUS7 PYCR2 QARS1 QRICH1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAB5IF RAC1 RAD21 RAF1 RAI1 RALA RALGAPA1 RAPSN RARB RASA2 RB1 RBM10 RBM8A RDH11 RECQL4 RELN RERE RET RFC2 RIPK4 RIPPLY2 RIT1 RMRP RNASEH2A RNASEH2B RNASEH2C RNU4ATAC RNU7-1 ROR2 RPGRIP1 RPGRIP1L RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS23 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAS RRAS2 RREB1 RSPO2 RSPRY1 RTL1 RTTN RUSC2 RXYLT1 RYR1 SAMHD1 SATB2 SCAPER SCNM1 SCYL2 SDCCAG8 SEC24C SEMA3E SEMA5A SEPTIN9 SETBP1 SETD1A SETD5 SF3B4 SH3PXD2B SHOC2 SIAH1 SIM1 SKI SKIC3 SLC12A2 SLC18A3 SLC1A4 SLC25A1 SLC25A24 SLC26A2 SLC37A4 SLC39A8 SLC3A1 SLC5A7 SLC6A9 SMAD2 SMAD4 SMARCA2 SMARCD2 SMC1A SMC3 SMG8 SMG9 SMOC1 SMS SNAP25 SNRPB SOD1 SON SOS1 SOS2 SOX11 SOX4 SOX5 SOX6 SOX9 SPART SPECC1L SPEN SPINT2 SPOP SPRED1 SPRED2 SRCAP SRD5A3 SRY STAC3 STAG1 STAG2 STAMBP STRA6 STX1A STXBP1 SUFU SUPT16H SUZ12 SYT2 TAB2 TAF1 TALDO1 TAOK1 TAPT1 TASP1 TBC1D20 TBC1D24 TBCE TBL2 TBR1 TBX1 TBX15 TBX2 TCF20 TCTN1 TCTN2 TCTN3 TENM3 TFAP2A TFAP2B TGDS THUMPD1 TMCO1 TMEM107 TMEM138 TMEM147 TMEM165 TMEM216 TMEM218 TMEM231 TMEM237 TMEM260 TMEM270 TMEM67 TMEM70 TMEM94 TOE1 TOGARAM1 TOPORS TPM2 TPM3 TRAF7 TREX1 TRIM32 TRIP11 TRIP12 TRIP13 TRPS1 TRPV4 TRRAP TSR2 TTC26 TTC5 TTC8 TUBB TUBB3 TWIST1 TWIST2 TXNDC15 UBA2 UBE3B UBE4B UBR7 UFD1 UGP2 UMPS UNC80 UPF3B USP7 USP9X VAC14 VAMP1 VANGL2 VARS1 VIPAS39 VPS33B VPS37D WARS2 WASHC4 WASHC5 WBP11 WDPCP WDR35 WDR37 WDR73 WNT3 WNT4 WNT5A WNT7A WNT9B XYLT1 XYLT2 YWHAE YY1 ZBTB18 ZBTB24 ZC4H2 ZDHHC9 ZIC3 ZMIZ1 ZMPSTE24 ZMYM2 ZNF148 ZNF292 ZNF423 ZNF462 ZNF699

Diseases (807) :ORPHA:171866 OMIM:612813 OMIM:617762 OMIM:264470 ORPHA:2971 OMIM:607944 ORPHA:171433 ORPHA:171430 OMIM:243310 ORPHA:2604 ORPHA:124 ORPHA:2136 ORPHA:51 ORPHA:363528 OMIM:616503 ORPHA:404448 OMIM:615873 OMIM:103050 ORPHA:46 OMIM:619297 ORPHA:444077 ORPHA:98914 ORPHA:412069 OMIM:615829 ORPHA:475 OMIM:608629 ORPHA:220493 OMIM:300232 ORPHA:744 ORPHA:90348 OMIM:616603 OMIM:219150 OMIM:620025 OMIM:300884 OMIM:607906 ORPHA:79320 ORPHA:79325 OMIM:608104 ORPHA:79328 OMIM:608776 OMIM:263210 OMIM:613456 ORPHA:306542 OMIM:136760 ORPHA:391474 OMIM:613451 ORPHA:228390 OMIM:300373 ORPHA:2780 OMIM:620045 ORPHA:2067 OMIM:228600 OMIM:619548 OMIM:608233 OMIM:617050 ORPHA:251056 OMIM:135900 OMIM:617808 OMIM:618161 ORPHA:110 ORPHA:567 OMIM:300215 OMIM:617796 ORPHA:97297 OMIM:605039 OMIM:617190 OMIM:615485 ORPHA:250977 OMIM:608688 OMIM:618494 OMIM:619910 OMIM:301045 ORPHA:357074 OMIM:219200 OMIM:278250 ORPHA:2834 OMIM:617403 ORPHA:79500 OMIM:617402 OMIM:210600 OMIM:301040 OMIM:309580 ORPHA:352490 OMIM:615834 ORPHA:899 ORPHA:536467 ORPHA:2725 OMIM:245600 ORPHA:709 OMIM:261540 ORPHA:79332 OMIM:130070 ORPHA:564 OMIM:619762 ORPHA:904 OMIM:617101 ORPHA:568 OMIM:309800 OMIM:619325 OMIM:617822 OMIM:617877 OMIM:607932 OMIM:608022 ORPHA:79076 ORPHA:1340 OMIM:115150 OMIM:613707 OMIM:163950 OMIM:613706 ORPHA:500 ORPHA:280679 ORPHA:199 ORPHA:444072 OMIM:616202 ORPHA:1052 OMIM:257300 OMIM:218340 ORPHA:1777 ORPHA:434179 OMIM:615948 OMIM:620029 OMIM:618522 ORPHA:163693 OMIM:614756 ORPHA:1425 ORPHA:1606 OMIM:606721 ORPHA:648 OMIM:613563 ORPHA:1454 ORPHA:2318 OMIM:235510 ORPHA:7 OMIM:618147 OMIM:300707 ORPHA:1308 OMIM:211750 ORPHA:487796 OMIM:616737 OMIM:619841 ORPHA:2554 OMIM:617063 OMIM:613805 ORPHA:2268 OMIM:616910 OMIM:211380 OMIM:618929 OMIM:617694 OMIM:617360 ORPHA:85173 OMIM:614732 ORPHA:397590 OMIM:613804 OMIM:243605 OMIM:613676 OMIM:236500 OMIM:614114 OMIM:616579 OMIM:618205 OMIM:617159 OMIM:619873 OMIM:214800 ORPHA:138 OMIM:614961 OMIM:253290 ORPHA:2990 OMIM:265000 OMIM:601776 ORPHA:2953 ORPHA:363417 OMIM:619339 OMIM:612651 OMIM:619512 OMIM:618500 ORPHA:556955 OMIM:618608 OMIM:618672 OMIM:618186 ORPHA:263508 OMIM:611209 ORPHA:263487 OMIM:608779 ORPHA:2021 OMIM:228520 OMIM:154780 OMIM:616720 ORPHA:85166 OMIM:151210 ORPHA:293843 ORPHA:2754 OMIM:277170 ORPHA:280 OMIM:608836 OMIM:618332 OMIM:180849 ORPHA:353277 OMIM:272430 OMIM:614643 OMIM:617062 ORPHA:397715 ORPHA:363611 OMIM:615502 ORPHA:281 OMIM:610127 OMIM:618142 ORPHA:166035 OMIM:250410 OMIM:616459 OMIM:619426 OMIM:618175 OMIM:174300 OMIM:618653 OMIM:602398 ORPHA:35107 ORPHA:818 OMIM:270400 OMIM:263750 ORPHA:246 OMIM:618480 OMIM:617804 OMIM:267000 ORPHA:2849 ORPHA:254525 ORPHA:2311 OMIM:616788 OMIM:242860 OMIM:614219 OMIM:251230 OMIM:618027 ORPHA:459061 OMIM:616901 OMIM:620062 OMIM:614653 ORPHA:3107 OMIM:180700 OMIM:616894 OMIM:617088 ORPHA:731 OMIM:617330 ORPHA:401973 OMIM:300960 ORPHA:35173 OMIM:619493 ORPHA:137888 OMIM:616367 OMIM:617561 ORPHA:3447 OMIM:616393 OMIM:614437 OMIM:617941 OMIM:610536 ORPHA:79113 OMIM:268305 OMIM:619376 ORPHA:353284 OMIM:242840 OMIM:610758 OMIM:615272 OMIM:616570 ORPHA:75857 OMIM:268300 OMIM:619306 OMIM:619072 OMIM:617763 OMIM:618065 ORPHA:502 OMIM:602588 ORPHA:1832 OMIM:259775 OMIM:300514 OMIM:227646 OMIM:614083 ORPHA:284979 ORPHA:2462 OMIM:618089 OMIM:618156 ORPHA:915 ORPHA:2363 ORPHA:1848 OMIM:615465 ORPHA:2117 OMIM:166250 ORPHA:93258 OMIM:123790 OMIM:614592 ORPHA:313855 ORPHA:93259 ORPHA:93260 OMIM:101400 ORPHA:794 OMIM:300280 OMIM:216340 ORPHA:3472 OMIM:236670 ORPHA:2308 OMIM:300048 ORPHA:90652 OMIM:304120 OMIM:300244 ORPHA:1190 OMIM:108720 OMIM:265380 ORPHA:572333 ORPHA:2052 OMIM:219000 OMIM:608980 OMIM:616819 ORPHA:466688 OMIM:619124 OMIM:618885 ORPHA:251071 ORPHA:85212 OMIM:608013 OMIM:257850 OMIM:612474 OMIM:307030 ORPHA:79255 OMIM:611890 ORPHA:1486 ORPHA:672 OMIM:610199 OMIM:610015 OMIM:602483 OMIM:619503 OMIM:269921 ORPHA:3166 OMIM:252940 OMIM:619603 ORPHA:373 OMIM:301026 ORPHA:93329 ORPHA:2570 OMIM:616281 ORPHA:477673 OMIM:616395 OMIM:617988 OMIM:619720 OMIM:619758 OMIM:619950 OMIM:619951 ORPHA:98791 OMIM:300863 ORPHA:163966 OMIM:620072 OMIM:617011 ORPHA:457359 OMIM:612109 OMIM:620083 OMIM:614744 ORPHA:887 OMIM:218040 ORPHA:3071 OMIM:619194 OMIM:301025 OMIM:261515 ORPHA:1865 ORPHA:800 OMIM:255800 OMIM:309590 ORPHA:2189 OMIM:236680 OMIM:218330 OMIM:266920 OMIM:617102 OMIM:617895 ORPHA:52055 OMIM:300472 OMIM:270450 OMIM:616489 OMIM:619750 OMIM:213300 OMIM:258480 OMIM:246200 ORPHA:508 OMIM:618571 OMIM:617926 OMIM:617925 OMIM:619472 OMIM:618451 OMIM:611174 OMIM:613385 ORPHA:228426 OMIM:191830 OMIM:118450 OMIM:619103 OMIM:616268 ORPHA:457193 ORPHA:3047 ORPHA:85201 OMIM:603736 OMIM:618974 ORPHA:89844 OMIM:135500 OMIM:170390 ORPHA:37553 OMIM:618381 OMIM:181270 OMIM:619320 OMIM:147920 OMIM:300867 OMIM:616546 OMIM:619476 OMIM:619479 OMIM:616258 ORPHA:261323 OMIM:200990 OMIM:607131 OMIM:609460 OMIM:605130 ORPHA:319182 OMIM:615278 OMIM:609942 OMIM:617661 OMIM:615071 ORPHA:319671 OMIM:215140 OMIM:620089 OMIM:601559 ORPHA:235 OMIM:277380 ORPHA:1662 ORPHA:495818 OMIM:222448 OMIM:613506 OMIM:616564 OMIM:605275 OMIM:618479 OMIM:618325 OMIM:619004 ORPHA:1272 OMIM:601088 OMIM:615547 ORPHA:397941 OMIM:614202 ORPHA:638 OMIM:157800 OMIM:617137 OMIM:619087 OMIM:618443 ORPHA:2505 OMIM:616734 OMIM:616430 OMIM:156200 ORPHA:85284 OMIM:617564 ORPHA:1596 OMIM:300260 OMIM:309520 ORPHA:776 OMIM:300895 ORPHA:369891 OMIM:616789 ORPHA:464738 OMIM:619286 OMIM:613443 OMIM:614976 ORPHA:261190 OMIM:600987 OMIM:618644 OMIM:618665 ORPHA:79329 ORPHA:2745 OMIM:300000 OMIM:619527 OMIM:249000 ORPHA:79282 OMIM:277400 OMIM:618774 OMIM:618499 OMIM:618951 OMIM:618378 OMIM:610498 OMIM:617950 OMIM:611719 OMIM:618958 OMIM:301032 ORPHA:563612 ORPHA:29 OMIM:610377 OMIM:164280 OMIM:178110 OMIM:619941 OMIM:616549 OMIM:618975 OMIM:618116 OMIM:300855 ORPHA:276432 OMIM:619717 OMIM:615419 ORPHA:371364 OMIM:619092 OMIM:256030 OMIM:617022 ORPHA:93400 ORPHA:93399 ORPHA:97685 OMIM:601321 OMIM:193520 OMIM:613735 ORPHA:447980 OMIM:602535 OMIM:615273 OMIM:122470 ORPHA:955 OMIM:102500 ORPHA:2789 OMIM:130720 ORPHA:220497 OMIM:613224 OMIM:117550 OMIM:620001 OMIM:618718 OMIM:618804 OMIM:618393 ORPHA:1507 OMIM:618529 OMIM:251290 ORPHA:534 OMIM:300804 OMIM:311200 OMIM:300209 OMIM:300997 OMIM:224690 OMIM:613803 OMIM:617729 OMIM:301056 ORPHA:505237 OMIM:617452 ORPHA:990 ORPHA:329224 OMIM:615009 ORPHA:217385 OMIM:619859 OMIM:613320 OMIM:615560 OMIM:618578 OMIM:617641 OMIM:619880 OMIM:618371 OMIM:608027 ORPHA:2637 OMIM:620021 ORPHA:44 OMIM:214100 OMIM:614870 OMIM:614859 OMIM:614866 OMIM:614872 OMIM:617370 OMIM:202370 OMIM:618298 OMIM:209880 ORPHA:2461 OMIM:248700 OMIM:618580 ORPHA:2059 OMIM:614080 ORPHA:369837 OMIM:615398 OMIM:618590 OMIM:119800 OMIM:617527 ORPHA:521426 OMIM:614669 OMIM:619895 OMIM:612394 OMIM:618183 ORPHA:2377 OMIM:614813 OMIM:616364 OMIM:618336 OMIM:264090 ORPHA:3455 ORPHA:95699 ORPHA:2092 OMIM:305600 OMIM:617450 ORPHA:2701 OMIM:617506 OMIM:618820 OMIM:619383 OMIM:618419 ORPHA:457279 OMIM:620005 OMIM:615966 OMIM:619636 OMIM:300661 ORPHA:423479 OMIM:619539 OMIM:202650 ORPHA:544469 OMIM:616038 OMIM:617516 ORPHA:77301 OMIM:609069 ORPHA:65288 ORPHA:50945 OMIM:151100 OMIM:617931 ORPHA:314655 OMIM:618342 OMIM:616420 ORPHA:481152 OMIM:615760 OMIM:617982 ORPHA:2510 OMIM:201000 ORPHA:1387 OMIM:600118 OMIM:212720 OMIM:616994 OMIM:617751 OMIM:614701 OMIM:611554 OMIM:611553 ORPHA:1713 OMIM:619311 OMIM:618797 OMIM:618388 ORPHA:2470 ORPHA:1587 OMIM:311900 ORPHA:2886 ORPHA:3320 ORPHA:436245 OMIM:218600 OMIM:616975 ORPHA:494344 OMIM:263650 OMIM:615355 ORPHA:175 OMIM:610333 ORPHA:2636 OMIM:210710 OMIM:268310 ORPHA:459070 OMIM:612528 OMIM:617412 OMIM:613309 OMIM:618021 ORPHA:457395 OMIM:616723 ORPHA:468631 OMIM:617773 OMIM:619542 ORPHA:251019 OMIM:612313 ORPHA:251028 OMIM:620107 OMIM:618766 OMIM:162100 ORPHA:436151 OMIM:616078 OMIM:269150 ORPHA:798 OMIM:619056 ORPHA:404440 OMIM:615761 OMIM:154400 ORPHA:245 OMIM:249420 OMIM:607721 OMIM:619314 ORPHA:171829 OMIM:182212 OMIM:222470 OMIM:619080 ORPHA:447997 OMIM:612289 ORPHA:2963 ORPHA:56304 ORPHA:628 ORPHA:93307 OMIM:619525 ORPHA:468699 OMIM:617301 OMIM:619657 OMIM:139210 OMIM:619293 OMIM:617475 OMIM:619268 OMIM:616920 OMIM:206920 ORPHA:1106 ORPHA:3063 OMIM:117650 OMIM:618598 ORPHA:500150 OMIM:617140 OMIM:610733 OMIM:615866 OMIM:618506 OMIM:616803 OMIM:618971 OMIM:114290 ORPHA:140 ORPHA:101000 ORPHA:1519 OMIM:619312 OMIM:270420 OMIM:618829 OMIM:611431 OMIM:619745 ORPHA:2044 OMIM:136140 OMIM:612379 ORPHA:1772 OMIM:255995 ORPHA:502434 OMIM:301043 OMIM:301022 OMIM:614261 OMIM:601186 OMIM:619480 ORPHA:228410 OMIM:300966 ORPHA:480907 OMIM:606003 OMIM:619575 OMIM:616897 OMIM:618950 OMIM:220500 OMIM:241410 ORPHA:2323 ORPHA:1617 OMIM:188400 ORPHA:93333 OMIM:618223 OMIM:618430 OMIM:613885 OMIM:258860 ORPHA:2753 OMIM:615145 ORPHA:1297 OMIM:113620 OMIM:169100 ORPHA:1388 OMIM:616145 OMIM:619989 ORPHA:1394 OMIM:213980 OMIM:617563 OMIM:620075 OMIM:614727 OMIM:608091 ORPHA:2752 OMIM:614424 OMIM:617478 OMIM:614052 ORPHA:1194 OMIM:618316 OMIM:614969 OMIM:619185 OMIM:108120 OMIM:618164 OMIM:200600 OMIM:617752 OMIM:617598 ORPHA:2635 OMIM:618454 OMIM:619534 OMIM:619244 OMIM:156610 ORPHA:300570 OMIM:617746 OMIM:200110 OMIM:209885 OMIM:619879 OMIM:619959 OMIM:244450 OMIM:619189 OMIM:618744 ORPHA:30 OMIM:616801 OMIM:616863 OMIM:300968 ORPHA:480880 OMIM:617802 OMIM:613404 OMIM:208085 ORPHA:572798 OMIM:615817 OMIM:220210 OMIM:619227 OMIM:613610 OMIM:618652 OMIM:251300 OMIM:273395 OMIM:611812 OMIM:276820 ORPHA:85194 OMIM:605822 ORPHA:506358 OMIM:617557 ORPHA:36367 OMIM:612337 OMIM:614069 OMIM:314580 OMIM:301041 OMIM:306955 OMIM:618659 OMIM:275210 OMIM:619522 OMIM:617260 OMIM:619188 OMIM:618619 OMIM:619488

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen