Human Phenotype Ontology

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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 palpebral fissures (HP:0008050)

Parent Node:
Slanting of the palpebral fissure (HP:0200006)

..Starting node
..Downslanted palpebral fissures (HP:0000494)

Term ID:

494

Name:

Downslanted palpebral fissures

Synonym:

Antimongoloid eye slant; Antimongoloid slant of palpebral fissures; Antimongoloid slanted palpebral fissures; Down slanting palpebral fissures; Down-slanted palpebral fissures; Down-slanting palpebral fissure; Down-slanting palpebral fissures; Downslanting palpebral fissure; Downslanting palpebral fissures; Downward slanted palpebral fissures; Downward slanting of the opening between the eyelids; Downward slanting palpebral fissures; Downward-slanting palpebral fissures; Palpebral fissures down-slanted

Definition:

The palpebral fissure inclination is more than two standard deviations below the mean.

Comments:

Reference:

HP:0000494

Genes and Diseases:

Child Nodes:

Sister Nodes:

Upslanted palpebral fissure (HP:0000582)

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:0000494	HP:0000494	Downslanted palpebral fissures	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency	.	120
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ABCA5 CL E G H	23461	35	OMIM:135400	Hypertrichosis terminalis, generalized, with or without gingival hyperplasia	HP:0040283 - Occasional	1
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040281 - Very frequent	19
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	72
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	123
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional	6
HP:0000494	HP:0000494	Downslanted palpebral fissures	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:0000494	HP:0000494	Downslanted palpebral fissures	0	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome	.	36
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.	54
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ALDH6A1 CL E G H	4329	7179	OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency	.	35
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG	HP:0040282 - Frequent	46
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040281 - Very frequent	2
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9	.	21
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	7
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.	48
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040282 - Frequent	3179
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040282 - Frequent	3179
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	1
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay		3
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	.	1
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome	HP:0040282 - Frequent	219
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	29
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs	.	4
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040283 - Occasional	49
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	239
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	150
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.	140
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.	3
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional	5
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional	192
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	168
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	1
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.	61
HP:0000494	HP:0000494	Downslanted palpebral fissures	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:0000494	HP:0000494	Downslanted palpebral fissures	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	1
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	114
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	118
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	71
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	97
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	87
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	25
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	66
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	119
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin	.	11
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome	.	17
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome	.	7
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome	HP:0040282 - Frequent	13
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.	13
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	385
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent	2
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	276
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	.	10
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	5
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	76
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.	13
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	449
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	59
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53	.	1
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.	34
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	317
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.	317
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO	HP:0040283 - Occasional	3
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent	33
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.	6
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040282 - Frequent	2
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.	2
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome		2
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	20
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	161
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	146
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5	HP:0040283 - Occasional	146
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	1
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	342
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	17
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CHD1 CL E G H	1105	1915	ORPHA:529965	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome	HP:0040282 - Frequent	2
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CHD1 CL E G H	1105	1915	OMIM:617682	Pilarowski-Bjornsson syndrome	.	2
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18		72
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome	HP:0040283 - Occasional	52
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	68
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	27
HP:0000494	HP:0000494	Downslanted palpebral fissures	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:0000494	HP:0000494	Downslanted palpebral fissures	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040282 - Frequent	7
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome	HP:0040284 - Very rare	45
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	18
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040283 - Occasional	52
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.	52
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040282 - Frequent	215
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040282 - Frequent	222
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	COL9A3 CL E G H	1299	2219	OMIM:620022			137
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	3
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	9
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	.	9
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	1
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040281 - Very frequent	291
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p	HP:0040282 - Frequent	15
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040281 - Very frequent	38
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional	4
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V		2
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040283 - Occasional	72
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS		72
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional	159
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	47
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.	59
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis	HP:0040281 - Very frequent	59
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	DMXL2 CL E G H	23312	2938	OMIM:618663	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81		3
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.	5
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	72
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	.	3
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	DOK7 CL E G H	285489	26594	OMIM:618389	FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS3		91
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040283 - Occasional	3
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair	.	3
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional	27
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional	144
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.	13
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	13
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13	.	427
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	.	7
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.	51
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040283 - Occasional	4
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38	.	60
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	60
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	.	45
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040282 - Frequent	27
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.	48
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2	.	250
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040281 - Very frequent	250
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040283 - Occasional	81
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	.	35
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040282 - Frequent	1361
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040281 - Very frequent	1361
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	.	384
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	.	7
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45		8
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome	.	62
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040282 - Frequent	62
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia	HP:0040282 - Frequent	18
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome	HP:0040281 - Very frequent	172
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.	172
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome	.	172
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040282 - Frequent	175
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040281 - Very frequent	175
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome	.	175
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome	.	145
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.	68
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040282 - Frequent	2
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	.	2
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome		332
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent	8
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040281 - Very frequent	493
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.	493
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	.	493
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1	HP:0040281 - Very frequent	493
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040281 - Very frequent	493
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion	HP:0040282 - Frequent	177
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040282 - Frequent	184
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features		184
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	4
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	44
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	139
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040283 - Occasional	87
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.	68
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.	45
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent	73
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.	3
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent	200
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent	88
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	54
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.	16
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040282 - Frequent	16
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.	8
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome	.
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.	98
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	48
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	1
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	3
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	HP:0040281 - Very frequent	5
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies		8
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.	141
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	13
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	65
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040281 - Very frequent	5
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional	13
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS		114
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional	7
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features		3
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.	2
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.	46
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	KIF15 CL E G H	56992	17273	OMIM:619981
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome	.
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.	91
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome	.	1
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome	HP:0040283 - Occasional	13
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41	.	13
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	196
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	196
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	LDHD CL E G H	197257	19708	OMIM:245450	LACTIC ACIDURIA DUE TO D-LACTIC ACID	.
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040281 - Very frequent	289
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome	.	124
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040282 - Frequent	124
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	4
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	43
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent	21
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome	HP:0040283 - Occasional	21
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040282 - Frequent	93
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	134
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	178
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040281 - Very frequent	178
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040281 - Very frequent	11
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.	11
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	.	4
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	21
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome	.	43
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040282 - Frequent	43
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.	39
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	69
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	127
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID		1
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	.	29
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040284 - Very rare	68
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.	68
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria	HP:0040281 - Very frequent	150
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MYH3 CL E G H	4621	7573	OMIM:618436	Arthrogryposis, distal, type 2B3	.	166
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	166
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A	.	166
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent	166
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040281 - Very frequent	5
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.	5
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040281 - Very frequent
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional	23
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay		48
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent	48
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent	48
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040282 - Frequent	4
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10		9
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040284 - Very rare	1952
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040281 - Very frequent	1952
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NFIB CL E G H	4781	7785	OMIM:618286	Macrocephaly, acquired, with impaired intellectual development	.	1
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional	40
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040282 - Frequent	40
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2	.	40
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040281 - Very frequent	138
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.	144
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040281 - Very frequent	144
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	85
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	102
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6		102
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	544
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040283 - Occasional	544
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	118
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	8
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	2
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional	1
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10	.	201
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.	201
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040282 - Frequent	201
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN		3
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000494	HP:0000494	Downslanted palpebral fissures	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:0000494	HP:0000494	Downslanted palpebral fissures	0	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	.	4
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome	HP:0040283 - Occasional	2
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040282 - Frequent	24
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome		24
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66	.
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040282 - Frequent	231
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	14
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome	HP:0040281 - Very frequent	59
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040281 - Very frequent	59
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040283 - Occasional	531
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	531
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome	.	28
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)	.	47
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	.	86
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	7
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.	162
HP:0000494	HP:0000494	Downslanted palpebral fissures	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:0000494	HP:0000494	Downslanted palpebral fissures	0	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	11
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type	.	8
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3	.	38
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent	38
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2	.	31
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent	31
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2	HP:0040283 - Occasional	2
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	2
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36	.	13
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040283 - Occasional	10
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35	.	10
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex	.	4
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent	4
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040282 - Frequent	665
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	948
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040283 - Occasional	948
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	291
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0000494	HP:0000494	Downslanted palpebral fissures	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:0000494	HP:0000494	Downslanted palpebral fissures	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	.
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	.	53
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.	11
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional	11
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	.	135
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2		212
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	212
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5		212
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome	HP:0040282 - Frequent	150
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040283 - Occasional	150
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2		73
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	3
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	68
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome	.	43
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome	HP:0040281 - Very frequent	43
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	39
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.	7
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	HP:0040281 - Very frequent	11
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040282 - Frequent	15
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome	.	15
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	120
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.	42
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	.	1
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040281 - Very frequent	65
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	RPS6KA3 CL E G H	6197	10432	ORPHA:276630	Symptomatic form of Coffin-Lowry syndrome in female carriers	HP:0040283 - Occasional	65
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	1
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040283 - Occasional	34
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.	34
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040282 - Frequent	80
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	70
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	357
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	61
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome	HP:0040283 - Occasional	5
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2	.	5
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p	HP:0040282 - Frequent	6
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29	.	143
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID		6
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome	.	60
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	60
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional	43
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040281 - Very frequent	49
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040282 - Frequent	134
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040282 - Frequent	9
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040281 - Very frequent	150
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	73
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SLC19A3 CL E G H	80704	16266	ORPHA:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	HP:0040283 - Occasional	110
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.	178
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3	.	24
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	24
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SLC45A1 CL E G H	50651	17939	OMIM:617532	Intellectual developmental disorder with neuropsychiatric features	.	2
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108	.
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040283 - Occasional	146
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2	.	135
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.	15
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome	HP:0040281 - Very frequent	94
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome		94
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	315
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	30
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9		30
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome	.	11
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040283 - Occasional	66
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type	.	6
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040282 - Frequent	6
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome	.	136
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	.	14
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040283 - Occasional	14
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040283 - Occasional	1
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	108
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	9
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SZT2 CL E G H	23334	29040	OMIM:615476	Epileptic encephalopathy, early infantile, 18	.	123
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	123
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040282 - Frequent	21
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome	HP:0040281 - Very frequent	1
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040282 - Frequent	32
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent	140
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome	HP:0040281 - Very frequent	104
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040282 - Frequent	6
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.	82
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B	.	37
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	2
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	108
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63		8
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44	.	8
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	2
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	7
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	TSPEAR CL E G H	54084	1268	OMIM:618180	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	.	39
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis	.	1
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	41
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional	64
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III	HP:0040283 - Occasional	7
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	13
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	UBE3A CL E G H	7337	12496	ORPHA:238446	15q11q13 microduplication syndrome	HP:0040283 - Occasional	278
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS		1
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria	HP:0040282 - Frequent	135
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	HP:0040283 - Occasional	23
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent	23
HP:0000494	HP:0000494	Downslanted palpebral fissures	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:0000494	HP:0000494	Downslanted palpebral fissures	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.	546
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040281 - Very frequent	546
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040283 - Occasional	20
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent	83
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional	60
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	149
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040282 - Frequent	14
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040282 - Frequent	7
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome	.	7
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	HP:0040282 - Frequent	17
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.	362
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	.	4
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0000494	HP:0000494	Downslanted palpebral fissures	0	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	.	5

Genes (462) :AARS1 ABAT ABCA5 ACSL4 ACTB ACTG1 ACTL6B ADAMTS2 ADNP AFF4 AHDC1 AKT1 ALDH1A2 ALDH6A1 ALG2 AMMECR1 AMPD2 ANKRD11 AP3B2 AP4E1 APC APC2 ARCN1 ARHGEF2 ARID1B ARID2 ARL6 ARV1 ARVCF ASPH ASXL3 ATP1A2 ATP1A3 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATR ATRIP AUTS2 B3GAT3 BAP1 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL11A BCORL1 BGN BICRA BMP2 BMPR1A BPTF BRAF BRPF1 BUB1 BUB1B BUB3 C12ORF57 CACNA1A CACNA1B CACNA2D1 CAMK2A CAMTA1 CASK CBL CCDC115 CCDC22 CDC42 CDC42BPB CDH11 CDH2 CDK10 CDK19 CELF2 CENPE CENPJ CENPT CEP152 CEP19 CEP290 CEP57 CFAP418 CHD1 CHD7 CHD8 CHRNA7 CHRNG CHST14 CHST3 CKAP2L CLCN3 CLCN4 CLTC CNKSR2 CNTNAP2 COG1 COL11A1 COL11A2 COL5A1 COL9A3 COLEC10 COLEC11 COMT CPLX1 CREBBP CSGALNACT1 CTBP1 CTNND2 CUL4B CWC27 CYFIP2 DALRD3 DDX59 DHCR24 DHCR7 DHDDS DHODH DMXL2 DNAJC21 DNM1 DOCK3 DOK7 DPF2 DPH1 DPM1 DPYD DPYSL5 DSE DVL1 DVL3 DYNC1H1 DYNC2LI1 EBF3 EBP EDEM3 EED EEF1A2 EFEMP2 EFNB1 EFTUD2 EIF5A EP300 ESCO2 EZH2 FAM20C FBN1 FBXL4 FBXO11 FBXO31 FGD1 FGF10 FGF12 FGF13 FGF3 FGFR1 FGFR2 FGFR3 FHL1 FIBP FLCN FLI1 FLNA FOXG1 FOXP1 FZD2 FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRG2 GAD1 GALNT2 GATA4 GJA1 GLE1 GLI3 GMNN GP1BB GPC3 GPC4 GRIN2D GSC H3-3A H4C5 H4C9 HBA1 HBA2 HCN1 HEATR3 HERC1 HIRA HNRNPH1 HNRNPK HRAS HS6ST2 HUWE1 IDH1 IFT172 IFT27 IFT74 IGBP1 IL11RA IL6ST JMJD1C KAT5 KAT6B KCNA2 KCNB1 KCNE5 KCNH1 KCNMA1 KCNN3 KDM1A KDM5B KIF11 KIF15 KIF7 KIFBP KMT2A KMT2E KPTN KRAS LDHD LETM1 LMNA LRP2 LRP4 LTBP1 LZTFL1 LZTR1 MAF MAN1B1 MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPRE2 MASP1 MED12 MED12L MED25 MGAT2 MID1 MKKS MKS1 MN1 MPDZ MRAS MSL3 MTOR MVK MYH3 MYMK MYMX MYOD1 NAA10 NAA20 NALCN NECAP1 NECTIN1 NEK9 NELFA NEXMIF NF1 NFIB NFIX NONO NOTCH2 NOTCH3 NOVA2 NPHP1 NRAS NSD1 NSD2 NSRP1 NTRK2 NUP85 NUS1 NXN ODC1 OFD1 OGDHL ORC6 OSGEP OTUD5 OTUD6B P4HB PACS1 PACS2 PAFAH1B1 PARS2 PAX3 PCNT PDGFRB PEX3 PHOX2B PIGG PIK3CA PITX1 PKDCC PLK4 PLOD1 POGZ POLR1A POLR1B POLR1C POLR1D POLR3A PPP1CB PPP1R15B PPP2R1A PPP2R5D PPP3CA PRPS1 PRR12 PRRX1 PSMD12 PTCH1 PTEN PTPN11 PURA PUS7 PYCR1 PYCR2 RAB3GAP2 RAF1 RAI1 RAPSN RASA2 RBBP8 RDH11 RECQL4 RERE RIN2 RIT1 RLIM RNF135 RNU4ATAC ROR2 RPS19 RPS28 RPS6KA3 RRAS RRAS2 RREB1 RYR1 SATB1 SATB2 SC5D SCAPER SCN3A SCN8A SCNM1 SDCCAG8 SEC24C SEC24D SEMA5A SET SETBP1 SETD1A SETD1B SETD2 SETD5 SF3B4 SH3PXD2B SHOC2 SIAH1 SIN3A SKI SKIC3 SLC13A5 SLC19A3 SLC1A2 SLC25A24 SLC29A3 SLC2A10 SLC38A3 SLC39A13 SLC45A1 SLC9A7 SMARCA2 SMC1A SMOC1 SMPD4 SNAP29 SON SOS1 SOS2 SOX5 SPART SPATA5L1 SPECC1L SPEN SPOP SPRED1 SPRED2 STAC3 SUPT16H SUZ12 SYNGAP1 SYNJ1 SZT2 TAF1 TASP1 TBR1 TBX1 TCOF1 TFAP2B TFE3 TGFB2 TGFB3 THUMPD1 TMCO1 TMEM147 TMEM237 TNNI2 TNRC6B TRAIP TRAK1 TRIM32 TRIO TRIP13 TRMT10A TSPEAR TSR2 TTC8 TUBB3 TWIST2 UBA5 UBE3A UBR7 UFD1 UMPS UNC80 USP9X VPS13B VPS35L WAC WASHC5 WDPCP WNT5A WWOX YWHAE YWHAG YY1 ZBTB20 ZEB2 ZIC1 ZMIZ1 ZMPSTE24 ZMYM2 ZNF148 ZNF462 ZSWIM6

Diseases (459) :ORPHA:442835 OMIM:613163 OMIM:135400 ORPHA:86818 ORPHA:2995 OMIM:225410 OMIM:615873 ORPHA:444077 ORPHA:412069 OMIM:615829 ORPHA:744 OMIM:176920 OMIM:620025 OMIM:614105 ORPHA:79326 OMIM:300990 OMIM:615809 OMIM:148050 OMIM:613744 ORPHA:3258 ORPHA:261584 ORPHA:821 OMIM:617164 OMIM:617523 ORPHA:251056 OMIM:135900 OMIM:617808 ORPHA:110 ORPHA:567 OMIM:601552 ORPHA:352577 OMIM:615485 ORPHA:357074 OMIM:219200 OMIM:278250 ORPHA:2834 OMIM:617403 ORPHA:3473 ORPHA:198 ORPHA:808 OMIM:210600 OMIM:615834 OMIM:245600 OMIM:619762 OMIM:617101 OMIM:301029 OMIM:300989 OMIM:619325 ORPHA:261295 OMIM:617877 ORPHA:79076 ORPHA:529962 ORPHA:1340 OMIM:115150 OMIM:613707 OMIM:163950 OMIM:613706 OMIM:617333 ORPHA:1052 OMIM:218340 OMIM:617798 OMIM:614756 OMIM:300749 ORPHA:648 OMIM:613563 OMIM:616828 ORPHA:7 ORPHA:487796 OMIM:616737 OMIM:619841 ORPHA:1299 OMIM:211380 OMIM:618929 OMIM:617694 OMIM:618702 OMIM:613823 OMIM:614114 ORPHA:529965 OMIM:617682 OMIM:214800 OMIM:615032 ORPHA:199318 ORPHA:2990 OMIM:265000 OMIM:601776 ORPHA:2953 ORPHA:3255 OMIM:619512 OMIM:300114 ORPHA:163681 ORPHA:263508 OMIM:611209 ORPHA:2021 OMIM:619329 OMIM:620022 ORPHA:293843 OMIM:265050 ORPHA:280 OMIM:618332 OMIM:180849 ORPHA:353277 OMIM:618870 ORPHA:281 ORPHA:85293 ORPHA:166035 OMIM:250410 OMIM:174300 ORPHA:35107 OMIM:602398 ORPHA:818 OMIM:263750 ORPHA:246 OMIM:618663 OMIM:617052 OMIM:618292 OMIM:618389 OMIM:618027 ORPHA:459061 OMIM:616901 OMIM:608799 ORPHA:79322 ORPHA:1675 OMIM:619435 OMIM:615539 ORPHA:3107 OMIM:180700 OMIM:614563 OMIM:617088 OMIM:617330 OMIM:302960 ORPHA:35173 OMIM:619493 OMIM:617561 ORPHA:3447 OMIM:616393 OMIM:614437 ORPHA:1520 OMIM:304110 OMIM:610536 OMIM:619376 OMIM:613684 ORPHA:353284 OMIM:268300 OMIM:277590 OMIM:259775 OMIM:616914 OMIM:154700 ORPHA:284979 ORPHA:2462 OMIM:615471 OMIM:618089 OMIM:615979 OMIM:305400 ORPHA:915 OMIM:149730 ORPHA:90024 ORPHA:2117 OMIM:166250 OMIM:101600 OMIM:101200 ORPHA:87 OMIM:123790 ORPHA:1555 OMIM:602849 OMIM:300280 ORPHA:500095 OMIM:617107 OMIM:610883 ORPHA:2308 ORPHA:1826 OMIM:305620 OMIM:300048 ORPHA:90650 ORPHA:90652 OMIM:311300 OMIM:304120 ORPHA:261144 ORPHA:391372 OMIM:613670 OMIM:619124 OMIM:618885 ORPHA:251071 OMIM:257850 OMIM:611890 OMIM:175700 ORPHA:672 OMIM:616835 ORPHA:373 OMIM:312870 OMIM:602471 OMIM:619720 OMIM:619950 OMIM:619951 ORPHA:98791 OMIM:620072 OMIM:617011 ORPHA:457359 OMIM:620083 OMIM:616580 OMIM:218040 OMIM:301025 OMIM:309590 ORPHA:99646 ORPHA:52055 OMIM:300472 OMIM:614188 OMIM:619750 OMIM:619103 OMIM:606170 OMIM:618729 OMIM:616728 ORPHA:477993 OMIM:618109 OMIM:152950 OMIM:619981 ORPHA:261323 OMIM:200990 OMIM:609460 OMIM:605130 OMIM:618512 ORPHA:397612 OMIM:615637 OMIM:609942 OMIM:245450 ORPHA:1662 OMIM:222448 ORPHA:2143 OMIM:212780 OMIM:619451 OMIM:616564 OMIM:605275 ORPHA:1272 OMIM:601088 ORPHA:397941 OMIM:614202 ORPHA:638 OMIM:617137 OMIM:619087 OMIM:616734 ORPHA:93932 OMIM:305450 OMIM:618872 OMIM:616449 ORPHA:464738 OMIM:212066 ORPHA:79329 ORPHA:2745 OMIM:618774 OMIM:615219 OMIM:618499 OMIM:301032 ORPHA:457485 OMIM:616638 OMIM:610377 ORPHA:29 OMIM:618436 OMIM:178110 ORPHA:2053 ORPHA:1358 OMIM:254940 OMIM:618975 ORPHA:276432 OMIM:300855 OMIM:619717 OMIM:616266 ORPHA:371364 ORPHA:3253 OMIM:617022 OMIM:300912 ORPHA:97685 OMIM:601321 OMIM:618286 ORPHA:447980 ORPHA:420179 OMIM:614753 ORPHA:466791 ORPHA:955 OMIM:102500 OMIM:130720 ORPHA:2789 OMIM:618859 OMIM:613224 OMIM:117550 OMIM:620001 ORPHA:1507 OMIM:619075 ORPHA:544488 OMIM:300804 OMIM:311200 ORPHA:2750 OMIM:619701 OMIM:613803 OMIM:617729 OMIM:301056 ORPHA:505237 OMIM:617452 ORPHA:2050 ORPHA:329224 OMIM:615009 OMIM:618067 ORPHA:217385 ORPHA:1529 ORPHA:896 ORPHA:2637 OMIM:616592 OMIM:614882 OMIM:209880 OMIM:602501 OMIM:119800 OMIM:618821 OMIM:225400 OMIM:616364 OMIM:616462 OMIM:618939 ORPHA:861 OMIM:248390 OMIM:613717 OMIM:264090 OMIM:617506 OMIM:616817 ORPHA:391408 OMIM:616362 ORPHA:457279 OMIM:616355 OMIM:300661 OMIM:619539 OMIM:202650 ORPHA:77301 ORPHA:2969 ORPHA:314655 OMIM:618342 OMIM:612940 OMIM:616420 ORPHA:481152 OMIM:212720 OMIM:611554 OMIM:611553 ORPHA:1713 ORPHA:477817 OMIM:618388 ORPHA:436245 OMIM:218600 OMIM:616975 OMIM:613075 ORPHA:217335 OMIM:615355 OMIM:300978 ORPHA:137634 ORPHA:2636 OMIM:616651 OMIM:268310 OMIM:105650 OMIM:606164 ORPHA:192 OMIM:303600 ORPHA:276630 OMIM:619542 OMIM:619229 ORPHA:251019 OMIM:612313 ORPHA:251028 OMIM:607330 ORPHA:46059 OMIM:620107 OMIM:616294 OMIM:618106 OMIM:616078 OMIM:619056 OMIM:619000 OMIM:616831 ORPHA:404440 OMIM:615761 OMIM:154400 ORPHA:245 OMIM:249420 ORPHA:137834 OMIM:607721 OMIM:619314 ORPHA:94065 OMIM:613406 OMIM:182212 OMIM:222470 ORPHA:263410 OMIM:612289 OMIM:602782 OMIM:208050 OMIM:612350 ORPHA:157965 OMIM:617532 OMIM:301024 OMIM:601358 ORPHA:3051 OMIM:300590 OMIM:301044 OMIM:206920 OMIM:618622 ORPHA:66631 OMIM:609528 ORPHA:500150 OMIM:617140 OMIM:610733 OMIM:616559 OMIM:616803 ORPHA:101000 OMIM:619616 OMIM:145420 ORPHA:1519 OMIM:619312 OMIM:618828 OMIM:611431 OMIM:619745 OMIM:255995 ORPHA:168572 OMIM:619480 OMIM:618786 OMIM:615476 OMIM:300966 ORPHA:480907 OMIM:618950 ORPHA:1617 ORPHA:1727 OMIM:154500 ORPHA:46627 OMIM:301066 OMIM:614816 OMIM:615582 OMIM:619989 ORPHA:1394 OMIM:620075 OMIM:614424 OMIM:601680 OMIM:619243 OMIM:618825 OMIM:617061 OMIM:618180 OMIM:300946 ORPHA:300570 ORPHA:1807 ORPHA:238446 OMIM:619189 ORPHA:30 OMIM:616801 ORPHA:480880 OMIM:216550 ORPHA:193 OMIM:619135 ORPHA:284169 OMIM:220210 ORPHA:506358 OMIM:617557 ORPHA:3042 OMIM:259050 OMIM:235730 OMIM:618736 OMIM:618659 OMIM:619522 OMIM:617260 OMIM:618619 OMIM:603671

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

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