Human Phenotype Ontology

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

Grandparent Node:
Abnormal eyelid morphology (HP:0000492)

Parent Node:
Abnormality of the palpebral fissures (HP:0008050)

..Starting node
..Abnormal size of the palpebral fissures (HP:0200007)

Term ID:

200007

Name:

Abnormal size of the palpebral fissures

Synonym:

Abnormal size of the eyes; Abnormal size of the opening between the eyelids

Definition:

An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures.

Comments:

Reference:

HP:0200007

Genes and Diseases:

Child Nodes:

........

Blepharophimosis (HP:0000581)

................... HP:0000661 Palpebral fissure narrowing on adduction
................... HP:0007946 Unilateral narrow palpebral fissure

........

Long palpebral fissure (HP:0000637)

........

Short palpebral fissure (HP:0012745)

........

Narrow palpebral fissure (HP:0045025)

Sister Nodes:

Abnormal shape of the palpebral fissure (HP:0200005)

Slanting of the palpebral fissure (HP:0200006)

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:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		72
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1		72
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		123
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2		123
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome		47
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	ALDH1A3 CL E G H	220	409	OMIM:615113	Microphthalmia, isolated 8		10
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome		150
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome		102
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48		7
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related		166
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency		61
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES		3
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		5
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII		49
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL		2
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S		5769
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis		10
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits		32
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59		1
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies		3
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5		146
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome		35
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10		7
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10		7
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability		6
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe		64
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome		3
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome		9
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2		9
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type		38
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome		27
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1		27
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome		44
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2		18
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome		9
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB		45
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4		20
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1		199
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome		36
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome		114
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2		114
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2		114
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion		177
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis		92
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus		92
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome		184
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9		13
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18		33
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome		33
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia		68
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive		68
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1		99
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome		33
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome		8
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion		8
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation		8
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type		141
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant		141
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis		193
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome		193
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome		128
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome		11
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome		91
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome		91
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome		13
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome		196
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome		16
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy		645
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome		63
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	MAFB CL E G H	9935	6408	OMIM:617041	Duane retraction syndrome 3 with or without deafness		63
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome		63
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		2
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome		21
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1		21
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome		950
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	MED12 CL E G H	9968	11957	ORPHA:293707	Blepharophimosis-intellectual disability syndrome, MKB type		228
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61		4
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB		37
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG		37
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence		72
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1		35
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1		35
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A		166
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	NFIB CL E G H	4781	7785	OMIM:618286	Macrocephaly, acquired, with impaired intellectual development		1
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5		84
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	NUAK2 CL E G H	81788	29558	OMIM:619452	ANENCEPHALY 2; ANPH2
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome		1
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome		4
HP:0200007	HP:0200007	Abnormal size of the 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:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome		59
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3		59
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1		59
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3		59
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3		6
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II		531
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome		113
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		8
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		20
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome		29
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome		29
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5		77
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome		77
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		36
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		84
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		57
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		6
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		2
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome		12
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	POLR1A CL E G H	25885	17264	ORPHA:1200	Burn-McKeown syndrome		8
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures		6
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31		53
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation		53
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3		85
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional	3
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome		16
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome		16
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11		2
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3		3
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	RECQL4 CL E G H	9401	9949	OMIM:266280	Rapadilino syndrome		445
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0200007	HP:0200007	Abnormal size of the 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:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome		16
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB		8
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		10
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome		86
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29		143
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency		43
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome		178
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48		12
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome		12
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P		274
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome		504
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome		504
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type		146
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome		146
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies		15
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome		14
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20		14
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27		14
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA		138
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch		14
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9		71
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	TBL1XR1 CL E G H	79718	29529	OMIM:616944	Mental retardation, autosomal dominant 41		22
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome		22
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome		5
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia		5
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9		12
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome		1
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI		4
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49		2
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68		1
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1		14
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome		19
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	TXNL4A CL E G H	10907	30551	ORPHA:1200	Burn-McKeown syndrome		19
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type		13
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability		27
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0200007	HP:0200007	Abnormal size of the 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		20
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation		20
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2		136
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22		16
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy		83
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0200007	HP:0200007	Abnormal size of the palpebral fissures	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0200007	HP:0200007	Abnormal size of the 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:0200007	HP:0000637	Long palpebral fissure	1	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	72
HP:0200007	HP:0000637	Long palpebral fissure	1	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.	72
HP:0200007	HP:0000637	Long palpebral fissure	1	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	123
HP:0200007	HP:0000637	Long palpebral fissure	1	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2	.	123
HP:0200007	HP:0000637	Long palpebral fissure	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040284 - Very rare	47
HP:0200007	HP:0045025	Narrow palpebral fissure	1	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0200007	HP:0012745	Short palpebral fissure	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0200007	HP:0000637	Long palpebral fissure	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0200007	HP:0012745	Short palpebral fissure	1	ALDH1A3 CL E G H	220	409	OMIM:615113	Microphthalmia, isolated 8		10
HP:0200007	HP:0000581	Blepharophimosis	1	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0200007	HP:0000581	Blepharophimosis	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0200007	HP:0012745	Short palpebral fissure	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2	.	132
HP:0200007	HP:0000581	Blepharophimosis	1	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040283 - Occasional	150
HP:0200007	HP:0000637	Long palpebral fissure	1	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.	102
HP:0200007	HP:0000637	Long palpebral fissure	1	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent	102
HP:0200007	HP:0000637	Long palpebral fissure	1	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48		7
HP:0200007	HP:0045025	Narrow palpebral fissure	1	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6	.	25
HP:0200007	HP:0000637	Long palpebral fissure	1	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related	HP:0040283 - Occasional	166
HP:0200007	HP:0000581	Blepharophimosis	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.	3
HP:0200007	HP:0000581	Blepharophimosis	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0200007	HP:0012745	Short palpebral fissure	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040282 - Frequent	61
HP:0200007	HP:0012745	Short palpebral fissure	1	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.	61
HP:0200007	HP:0012745	Short palpebral fissure	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040282 - Frequent	36
HP:0200007	HP:0045025	Narrow palpebral fissure	1	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10	.	34
HP:0200007	HP:0000581	Blepharophimosis	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0200007	HP:0012745	Short palpebral fissure	1	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.	3
HP:0200007	HP:0012745	Short palpebral fissure	1	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	.	3
HP:0200007	HP:0000581	Blepharophimosis	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0200007	HP:0000581	Blepharophimosis	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.	101
HP:0200007	HP:0000581	Blepharophimosis	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0200007	HP:0045025	Narrow palpebral fissure	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0200007	HP:0000637	Long palpebral fissure	1	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII	HP:0040283 - Occasional	49
HP:0200007	HP:0012745	Short palpebral fissure	1	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL		2
HP:0200007	HP:0000637	Long palpebral fissure	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	276
HP:0200007	HP:0012745	Short palpebral fissure	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	5769
HP:0200007	HP:0000581	Blepharophimosis	1	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.	5769
HP:0200007	HP:0012745	Short palpebral fissure	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	7642
HP:0200007	HP:0012745	Short palpebral fissure	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	1086
HP:0200007	HP:0000581	Blepharophimosis	1	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	.	10
HP:0200007	HP:0000581	Blepharophimosis	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0200007	HP:0045025	Narrow palpebral fissure	1	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	.	32
HP:0200007	HP:0000637	Long palpebral fissure	1	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59	.	1
HP:0200007	HP:0000637	Long palpebral fissure	1	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies	.	3
HP:0200007	HP:0045025	Narrow palpebral fissure	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0200007	HP:0000581	Blepharophimosis	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0200007	HP:0012745	Short palpebral fissure	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.	8
HP:0200007	HP:0000581	Blepharophimosis	1	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5	HP:0040283 - Occasional	146
HP:0200007	HP:0045025	Narrow palpebral fissure	1	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0200007	HP:0000581	Blepharophimosis	1	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0200007	HP:0012745	Short palpebral fissure	1	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0200007	HP:0012745	Short palpebral fissure	1	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.	14
HP:0200007	HP:0000581	Blepharophimosis	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent	35
HP:0200007	HP:0012745	Short palpebral fissure	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040281 - Very frequent	35
HP:0200007	HP:0000581	Blepharophimosis	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0200007	HP:0000637	Long palpebral fissure	1	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10	HP:0040282 - Frequent	7
HP:0200007	HP:0000637	Long palpebral fissure	1	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.	7
HP:0200007	HP:0012745	Short palpebral fissure	1	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040283 - Occasional	6
HP:0200007	HP:0012745	Short palpebral fissure	1	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.	64
HP:0200007	HP:0000581	Blepharophimosis	1	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0200007	HP:0000581	Blepharophimosis	1	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	3
HP:0200007	HP:0000581	Blepharophimosis	1	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0200007	HP:0000581	Blepharophimosis	1	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	9
HP:0200007	HP:0000581	Blepharophimosis	1	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	.	9
HP:0200007	HP:0000581	Blepharophimosis	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0200007	HP:0012745	Short palpebral fissure	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0200007	HP:0000581	Blepharophimosis	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0200007	HP:0000581	Blepharophimosis	1	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040282 - Frequent	38
HP:0200007	HP:0000581	Blepharophimosis	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0200007	HP:0000581	Blepharophimosis	1	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	27
HP:0200007	HP:0012745	Short palpebral fissure	1	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0200007	HP:0000581	Blepharophimosis	1	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0200007	HP:0012745	Short palpebral fissure	1	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0200007	HP:0000637	Long palpebral fissure	1	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0200007	HP:0000581	Blepharophimosis	1	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0200007	HP:0045025	Narrow palpebral fissure	1	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0200007	HP:0045025	Narrow palpebral fissure	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0200007	HP:0045025	Narrow palpebral fissure	1	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome	.
HP:0200007	HP:0000581	Blepharophimosis	1	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome	.
HP:0200007	HP:0000581	Blepharophimosis	1	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome	.
HP:0200007	HP:0045025	Narrow palpebral fissure	1	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome	.
HP:0200007	HP:0045025	Narrow palpebral fissure	1	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome	.
HP:0200007	HP:0000581	Blepharophimosis	1	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome	.
HP:0200007	HP:0045025	Narrow palpebral fissure	1	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0200007	HP:0000581	Blepharophimosis	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0200007	HP:0012745	Short palpebral fissure	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent	1
HP:0200007	HP:0000581	Blepharophimosis	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0200007	HP:0045025	Narrow palpebral fissure	1	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040283 - Occasional	44
HP:0200007	HP:0045025	Narrow palpebral fissure	1	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome	.	44
HP:0200007	HP:0000581	Blepharophimosis	1	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome	.	44
HP:0200007	HP:0045025	Narrow palpebral fissure	1	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	.	18
HP:0200007	HP:0012745	Short palpebral fissure	1	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome	.	9
HP:0200007	HP:0000637	Long palpebral fissure	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0200007	HP:0000637	Long palpebral fissure	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	14
HP:0200007	HP:0000637	Long palpebral fissure	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0200007	HP:0000637	Long palpebral fissure	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	5
HP:0200007	HP:0045025	Narrow palpebral fissure	1	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0200007	HP:0045025	Narrow palpebral fissure	1	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	.	45
HP:0200007	HP:0000581	Blepharophimosis	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0200007	HP:0000637	Long palpebral fissure	1	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0200007	HP:0000581	Blepharophimosis	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0200007	HP:0000581	Blepharophimosis	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0200007	HP:0012745	Short palpebral fissure	1	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0200007	HP:0000581	Blepharophimosis	1	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0200007	HP:0000581	Blepharophimosis	1	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.	20
HP:0200007	HP:0012745	Short palpebral fissure	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	158
HP:0200007	HP:0000581	Blepharophimosis	1	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.	199
HP:0200007	HP:0012745	Short palpebral fissure	1	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040283 - Occasional	36
HP:0200007	HP:0000581	Blepharophimosis	1	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome	.
HP:0200007	HP:0045025	Narrow palpebral fissure	1	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome	.
HP:0200007	HP:0012745	Short palpebral fissure	1	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0200007	HP:0012745	Short palpebral fissure	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	340
HP:0200007	HP:0012745	Short palpebral fissure	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	58
HP:0200007	HP:0012745	Short palpebral fissure	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	410
HP:0200007	HP:0012745	Short palpebral fissure	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	147
HP:0200007	HP:0000581	Blepharophimosis	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0200007	HP:0012745	Short palpebral fissure	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	73
HP:0200007	HP:0012745	Short palpebral fissure	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	87
HP:0200007	HP:0012745	Short palpebral fissure	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	73
HP:0200007	HP:0012745	Short palpebral fissure	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	157
HP:0200007	HP:0012745	Short palpebral fissure	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	53
HP:0200007	HP:0012745	Short palpebral fissure	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	107
HP:0200007	HP:0000581	Blepharophimosis	1	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	114
HP:0200007	HP:0000581	Blepharophimosis	1	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2		114
HP:0200007	HP:0000581	Blepharophimosis	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0200007	HP:0012745	Short palpebral fissure	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0200007	HP:0012745	Short palpebral fissure	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0200007	HP:0000637	Long palpebral fissure	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040283 - Occasional	2
HP:0200007	HP:0000581	Blepharophimosis	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0200007	HP:0000581	Blepharophimosis	1	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion	HP:0040282 - Frequent	177
HP:0200007	HP:0000581	Blepharophimosis	1	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis	.	92
HP:0200007	HP:0000581	Blepharophimosis	1	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040281 - Very frequent	92
HP:0200007	HP:0000581	Blepharophimosis	1	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040283 - Occasional	184
HP:0200007	HP:0000637	Long palpebral fissure	1	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9	.	13
HP:0200007	HP:0000637	Long palpebral fissure	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0200007	HP:0045025	Narrow palpebral fissure	1	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18	.	33
HP:0200007	HP:0000581	Blepharophimosis	1	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18	.	33
HP:0200007	HP:0045025	Narrow palpebral fissure	1	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040283 - Occasional	33
HP:0200007	HP:0000637	Long palpebral fissure	1	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040283 - Occasional	33
HP:0200007	HP:0000581	Blepharophimosis	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.	68
HP:0200007	HP:0012745	Short palpebral fissure	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.	68
HP:0200007	HP:0012745	Short palpebral fissure	1	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.	68
HP:0200007	HP:0012745	Short palpebral fissure	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0200007	HP:0012745	Short palpebral fissure	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0200007	HP:0000637	Long palpebral fissure	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0200007	HP:0045025	Narrow palpebral fissure	1	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0200007	HP:0000581	Blepharophimosis	1	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0200007	HP:0000581	Blepharophimosis	1	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome	HP:0040283 - Occasional
HP:0200007	HP:0000581	Blepharophimosis	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0200007	HP:0000581	Blepharophimosis	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0200007	HP:0000581	Blepharophimosis	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0200007	HP:0012745	Short palpebral fissure	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0200007	HP:0000637	Long palpebral fissure	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0200007	HP:0045025	Narrow palpebral fissure	1	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.	33
HP:0200007	HP:0000581	Blepharophimosis	1	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.	33
HP:0200007	HP:0000637	Long palpebral fissure	1	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0200007	HP:0000581	Blepharophimosis	1	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome	HP:0040282 - Frequent
HP:0200007	HP:0000581	Blepharophimosis	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0200007	HP:0012745	Short palpebral fissure	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0200007	HP:0000637	Long palpebral fissure	1	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.	8
HP:0200007	HP:0000637	Long palpebral fissure	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040281 - Very frequent	8
HP:0200007	HP:0000637	Long palpebral fissure	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040281 - Very frequent	8
HP:0200007	HP:0012745	Short palpebral fissure	1	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0200007	HP:0000581	Blepharophimosis	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent	345
HP:0200007	HP:0045025	Narrow palpebral fissure	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0200007	HP:0000581	Blepharophimosis	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0200007	HP:0000581	Blepharophimosis	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0200007	HP:0012745	Short palpebral fissure	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.	98
HP:0200007	HP:0000637	Long palpebral fissure	1	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0200007	HP:0045025	Narrow palpebral fissure	1	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0200007	HP:0000637	Long palpebral fissure	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0200007	HP:0000581	Blepharophimosis	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0200007	HP:0012745	Short palpebral fissure	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040282 - Frequent	283
HP:0200007	HP:0000581	Blepharophimosis	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0200007	HP:0000581	Blepharophimosis	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0200007	HP:0000581	Blepharophimosis	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0200007	HP:0012745	Short palpebral fissure	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040282 - Frequent	283
HP:0200007	HP:0000581	Blepharophimosis	1	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040281 - Very frequent	141
HP:0200007	HP:0012745	Short palpebral fissure	1	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040281 - Very frequent	141
HP:0200007	HP:0000581	Blepharophimosis	1	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant	.	141
HP:0200007	HP:0012745	Short palpebral fissure	1	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0200007	HP:0000581	Blepharophimosis	1	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0200007	HP:0012745	Short palpebral fissure	1	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	193
HP:0200007	HP:0012745	Short palpebral fissure	1	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	128
HP:0200007	HP:0000581	Blepharophimosis	1	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	HP:0040283 - Occasional	11
HP:0200007	HP:0045025	Narrow palpebral fissure	1	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	HP:0040284 - Very rare	11
HP:0200007	HP:0045025	Narrow palpebral fissure	1	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0200007	HP:0000637	Long palpebral fissure	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0200007	HP:0000637	Long palpebral fissure	1	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0200007	HP:0012745	Short palpebral fissure	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0200007	HP:0012745	Short palpebral fissure	1	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040282 - Frequent	91
HP:0200007	HP:0045025	Narrow palpebral fissure	1	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.	91
HP:0200007	HP:0000581	Blepharophimosis	1	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.	91
HP:0200007	HP:0000637	Long palpebral fissure	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0200007	HP:0045025	Narrow palpebral fissure	1	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome	HP:0040283 - Occasional	13
HP:0200007	HP:0000637	Long palpebral fissure	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	196
HP:0200007	HP:0000581	Blepharophimosis	1	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040282 - Frequent	196
HP:0200007	HP:0012745	Short palpebral fissure	1	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040282 - Frequent	196
HP:0200007	HP:0045025	Narrow palpebral fissure	1	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040282 - Frequent	16
HP:0200007	HP:0012745	Short palpebral fissure	1	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040282 - Frequent	16
HP:0200007	HP:0012745	Short palpebral fissure	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0200007	HP:0000581	Blepharophimosis	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	88
HP:0200007	HP:0000581	Blepharophimosis	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0200007	HP:0000637	Long palpebral fissure	1	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0200007	HP:0012745	Short palpebral fissure	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0200007	HP:0000637	Long palpebral fissure	1	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0200007	HP:0012745	Short palpebral fissure	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	1
HP:0200007	HP:0012745	Short palpebral fissure	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0200007	HP:0012745	Short palpebral fissure	1	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0200007	HP:0012745	Short palpebral fissure	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040281 - Very frequent	63
HP:0200007	HP:0000581	Blepharophimosis	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent	63
HP:0200007	HP:0000581	Blepharophimosis	1	MAFB CL E G H	9935	6408	OMIM:617041	Duane retraction syndrome 3 with or without deafness		63
HP:0200007	HP:0012745	Short palpebral fissure	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.	63
HP:0200007	HP:0000637	Long palpebral fissure	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	134
HP:0200007	HP:0000637	Long palpebral fissure	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	178
HP:0200007	HP:0000581	Blepharophimosis	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0200007	HP:0045025	Narrow palpebral fissure	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0200007	HP:0045025	Narrow palpebral fissure	1	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0200007	HP:0012745	Short palpebral fissure	1	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	.	4
HP:0200007	HP:0000581	Blepharophimosis	1	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	HP:0040283 - Occasional	4
HP:0200007	HP:0000581	Blepharophimosis	1	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	21
HP:0200007	HP:0000581	Blepharophimosis	1	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0200007	HP:0000581	Blepharophimosis	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent	3
HP:0200007	HP:0000581	Blepharophimosis	1	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome	HP:0040281 - Very frequent	950
HP:0200007	HP:0000581	Blepharophimosis	1	MED12 CL E G H	9968	11957	ORPHA:293707	Blepharophimosis-intellectual disability syndrome, MKB type	HP:0040282 - Frequent	228
HP:0200007	HP:0000581	Blepharophimosis	1	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked	.	228
HP:0200007	HP:0045025	Narrow palpebral fissure	1	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61		4
HP:0200007	HP:0045025	Narrow palpebral fissure	1	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0200007	HP:0012745	Short palpebral fissure	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent	1
HP:0200007	HP:0000581	Blepharophimosis	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0200007	HP:0000581	Blepharophimosis	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0200007	HP:0000581	Blepharophimosis	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0200007	HP:0000581	Blepharophimosis	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0200007	HP:0012745	Short palpebral fissure	1	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB	.	37
HP:0200007	HP:0000581	Blepharophimosis	1	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB	.	37
HP:0200007	HP:0012745	Short palpebral fissure	1	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040282 - Frequent	37
HP:0200007	HP:0012745	Short palpebral fissure	1	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.	72
HP:0200007	HP:0000581	Blepharophimosis	1	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.	72
HP:0200007	HP:0000581	Blepharophimosis	1	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.	35
HP:0200007	HP:0012745	Short palpebral fissure	1	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.	35
HP:0200007	HP:0045025	Narrow palpebral fissure	1	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.	35
HP:0200007	HP:0012745	Short palpebral fissure	1	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040282 - Frequent	35
HP:0200007	HP:0000581	Blepharophimosis	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.	166
HP:0200007	HP:0000581	Blepharophimosis	1	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0200007	HP:0000581	Blepharophimosis	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	13
HP:0200007	HP:0000581	Blepharophimosis	1	NFIB CL E G H	4781	7785	OMIM:618286	Macrocephaly, acquired, with impaired intellectual development	.	1
HP:0200007	HP:0000581	Blepharophimosis	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	84
HP:0200007	HP:0000581	Blepharophimosis	1	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	HP:0040283 - Occasional	84
HP:0200007	HP:0012745	Short palpebral fissure	1	NUAK2 CL E G H	81788	29558	OMIM:619452	ANENCEPHALY 2; ANPH2
HP:0200007	HP:0000637	Long palpebral fissure	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	2
HP:0200007	HP:0000581	Blepharophimosis	1	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0200007	HP:0000581	Blepharophimosis	1	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:0200007	HP:0000581	Blepharophimosis	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0200007	HP:0012745	Short palpebral fissure	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0200007	HP:0000637	Long palpebral fissure	1	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:0200007	HP:0000637	Long palpebral fissure	1	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies		4
HP:0200007	HP:0012745	Short palpebral fissure	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	1349
HP:0200007	HP:0000581	Blepharophimosis	1	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome	HP:0040281 - Very frequent	59
HP:0200007	HP:0000581	Blepharophimosis	1	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040281 - Very frequent	59
HP:0200007	HP:0000581	Blepharophimosis	1	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.	59
HP:0200007	HP:0000581	Blepharophimosis	1	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.	59
HP:0200007	HP:0045025	Narrow palpebral fissure	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0200007	HP:0000637	Long palpebral fissure	1	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.	6
HP:0200007	HP:0045025	Narrow palpebral fissure	1	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040283 - Occasional	531
HP:0200007	HP:0045025	Narrow palpebral fissure	1	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional	113
HP:0200007	HP:0000637	Long palpebral fissure	1	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional	113
HP:0200007	HP:0000637	Long palpebral fissure	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	8
HP:0200007	HP:0000637	Long palpebral fissure	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	20
HP:0200007	HP:0045025	Narrow palpebral fissure	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0200007	HP:0000581	Blepharophimosis	1	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.	29
HP:0200007	HP:0000581	Blepharophimosis	1	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040282 - Frequent	29
HP:0200007	HP:0045025	Narrow palpebral fissure	1	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.	29
HP:0200007	HP:0000581	Blepharophimosis	1	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.	77
HP:0200007	HP:0000581	Blepharophimosis	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0200007	HP:0000581	Blepharophimosis	1	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040281 - Very frequent	77
HP:0200007	HP:0012745	Short palpebral fissure	1	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040281 - Very frequent	77
HP:0200007	HP:0000637	Long palpebral fissure	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	36
HP:0200007	HP:0000637	Long palpebral fissure	1	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0200007	HP:0000637	Long palpebral fissure	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	84
HP:0200007	HP:0000637	Long palpebral fissure	1	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0200007	HP:0000637	Long palpebral fissure	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	57
HP:0200007	HP:0000637	Long palpebral fissure	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	6
HP:0200007	HP:0000637	Long palpebral fissure	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0200007	HP:0000637	Long palpebral fissure	1	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome	.	12
HP:0200007	HP:0012745	Short palpebral fissure	1	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0200007	HP:0012745	Short palpebral fissure	1	POLR1A CL E G H	25885	17264	ORPHA:1200	Burn-McKeown syndrome	HP:0040281 - Very frequent	8
HP:0200007	HP:0045025	Narrow palpebral fissure	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0200007	HP:0012745	Short palpebral fissure	1	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0200007	HP:0000581	Blepharophimosis	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0200007	HP:0012745	Short palpebral fissure	1	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0200007	HP:0012745	Short palpebral fissure	1	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.	6
HP:0200007	HP:0000637	Long palpebral fissure	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0200007	HP:0012745	Short palpebral fissure	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0200007	HP:0000637	Long palpebral fissure	1	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31		53
HP:0200007	HP:0000637	Long palpebral fissure	1	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	HP:0040283 - Occasional	53
HP:0200007	HP:0045025	Narrow palpebral fissure	1	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0200007	HP:0000581	Blepharophimosis	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0200007	HP:0000637	Long palpebral fissure	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48	.	3
HP:0200007	HP:0012745	Short palpebral fissure	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	9
HP:0200007	HP:0012745	Short palpebral fissure	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	391
HP:0200007	HP:0012745	Short palpebral fissure	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040283 - Occasional	16
HP:0200007	HP:0012745	Short palpebral fissure	1	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.	16
HP:0200007	HP:0000581	Blepharophimosis	1	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11		2
HP:0200007	HP:0045025	Narrow palpebral fissure	1	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11		2
HP:0200007	HP:0012745	Short palpebral fissure	1	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3	HP:0040283 - Occasional	3
HP:0200007	HP:0045025	Narrow palpebral fissure	1	RECQL4 CL E G H	9401	9949	OMIM:266280	Rapadilino syndrome	.	445
HP:0200007	HP:0000581	Blepharophimosis	1	RECQL4 CL E G H	9401	9949	OMIM:266280	Rapadilino syndrome	.	445
HP:0200007	HP:0045025	Narrow palpebral fissure	1	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0200007	HP:0000581	Blepharophimosis	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0200007	HP:0000581	Blepharophimosis	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional	16
HP:0200007	HP:0000581	Blepharophimosis	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0200007	HP:0012745	Short palpebral fissure	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent
HP:0200007	HP:0000581	Blepharophimosis	1	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB		8
HP:0200007	HP:0000581	Blepharophimosis	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0200007	HP:0000637	Long palpebral fissure	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0200007	HP:0000637	Long palpebral fissure	1	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome	.	15
HP:0200007	HP:0000637	Long palpebral fissure	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	120
HP:0200007	HP:0000637	Long palpebral fissure	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0200007	HP:0045025	Narrow palpebral fissure	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional	10
HP:0200007	HP:0045025	Narrow palpebral fissure	1	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0200007	HP:0000581	Blepharophimosis	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0200007	HP:0012745	Short palpebral fissure	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0200007	HP:0000581	Blepharophimosis	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0200007	HP:0012745	Short palpebral fissure	1	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040282 - Frequent	86
HP:0200007	HP:0000581	Blepharophimosis	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent	86
HP:0200007	HP:0012745	Short palpebral fissure	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040281 - Very frequent	86
HP:0200007	HP:0000581	Blepharophimosis	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0200007	HP:0000581	Blepharophimosis	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.	11
HP:0200007	HP:0000581	Blepharophimosis	1	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic	.
HP:0200007	HP:0012745	Short palpebral fissure	1	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29		143
HP:0200007	HP:0000581	Blepharophimosis	1	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional	43
HP:0200007	HP:0000581	Blepharophimosis	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0200007	HP:0012745	Short palpebral fissure	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0200007	HP:0012745	Short palpebral fissure	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0200007	HP:0000581	Blepharophimosis	1	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.	178
HP:0200007	HP:0012745	Short palpebral fissure	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional	178
HP:0200007	HP:0000581	Blepharophimosis	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional	178
HP:0200007	HP:0000581	Blepharophimosis	1	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48	.	12
HP:0200007	HP:0045025	Narrow palpebral fissure	1	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48	.	12
HP:0200007	HP:0045025	Narrow palpebral fissure	1	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	HP:0040282 - Frequent	12
HP:0200007	HP:0012745	Short palpebral fissure	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	274
HP:0200007	HP:0012745	Short palpebral fissure	1	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P	HP:0040283 - Occasional	274
HP:0200007	HP:0000581	Blepharophimosis	1	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P	HP:0040283 - Occasional	274
HP:0200007	HP:0000581	Blepharophimosis	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.	504
HP:0200007	HP:0000581	Blepharophimosis	1	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040282 - Frequent	504
HP:0200007	HP:0012745	Short palpebral fissure	1	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040282 - Frequent	504
HP:0200007	HP:0045025	Narrow palpebral fissure	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome		504
HP:0200007	HP:0000581	Blepharophimosis	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0200007	HP:0045025	Narrow palpebral fissure	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0200007	HP:0000581	Blepharophimosis	1	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040281 - Very frequent	146
HP:0200007	HP:0012745	Short palpebral fissure	1	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040282 - Frequent	146
HP:0200007	HP:0000581	Blepharophimosis	1	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040282 - Frequent	146
HP:0200007	HP:0000581	Blepharophimosis	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0200007	HP:0045025	Narrow palpebral fissure	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.	146
HP:0200007	HP:0000581	Blepharophimosis	1	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome	.	22
HP:0200007	HP:0012745	Short palpebral fissure	1	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.	15
HP:0200007	HP:0000581	Blepharophimosis	1	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.	15
HP:0200007	HP:0000581	Blepharophimosis	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040281 - Very frequent	15
HP:0200007	HP:0012745	Short palpebral fissure	1	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0200007	HP:0012745	Short palpebral fissure	1	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040283 - Occasional	14
HP:0200007	HP:0012745	Short palpebral fissure	1	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20	.	14
HP:0200007	HP:0012745	Short palpebral fissure	1	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.	14
HP:0200007	HP:0012745	Short palpebral fissure	1	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0200007	HP:0000581	Blepharophimosis	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109
HP:0200007	HP:0012745	Short palpebral fissure	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109
HP:0200007	HP:0045025	Narrow palpebral fissure	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0200007	HP:0000637	Long palpebral fissure	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0200007	HP:0045025	Narrow palpebral fissure	1	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0200007	HP:0000637	Long palpebral fissure	1	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0200007	HP:0000637	Long palpebral fissure	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0200007	HP:0045025	Narrow palpebral fissure	1	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA		138
HP:0200007	HP:0012745	Short palpebral fissure	1	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	.	14
HP:0200007	HP:0000581	Blepharophimosis	1	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	.	14
HP:0200007	HP:0000581	Blepharophimosis	1	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71
HP:0200007	HP:0012745	Short palpebral fissure	1	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0200007	HP:0000581	Blepharophimosis	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0200007	HP:0000581	Blepharophimosis	1	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	HP:0040282 - Frequent
HP:0200007	HP:0000637	Long palpebral fissure	1	TBL1XR1 CL E G H	79718	29529	OMIM:616944	Mental retardation, autosomal dominant 41		22
HP:0200007	HP:0045025	Narrow palpebral fissure	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040281 - Very frequent	22
HP:0200007	HP:0000581	Blepharophimosis	1	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	.	22
HP:0200007	HP:0045025	Narrow palpebral fissure	1	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0200007	HP:0000581	Blepharophimosis	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0200007	HP:0012745	Short palpebral fissure	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0200007	HP:0000581	Blepharophimosis	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0200007	HP:0045025	Narrow palpebral fissure	1	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome	.	32
HP:0200007	HP:0000581	Blepharophimosis	1	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome	.	32
HP:0200007	HP:0000581	Blepharophimosis	1	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.	5
HP:0200007	HP:0012745	Short palpebral fissure	1	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.	5
HP:0200007	HP:0000581	Blepharophimosis	1	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040282 - Frequent	5
HP:0200007	HP:0045025	Narrow palpebral fissure	1	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9	.	12
HP:0200007	HP:0000637	Long palpebral fissure	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0200007	HP:0012745	Short palpebral fissure	1	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome	.	1
HP:0200007	HP:0000581	Blepharophimosis	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.	1
HP:0200007	HP:0012745	Short palpebral fissure	1	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI	.	4
HP:0200007	HP:0000581	Blepharophimosis	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0200007	HP:0000581	Blepharophimosis	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0200007	HP:0045025	Narrow palpebral fissure	1	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49	.	2
HP:0200007	HP:0045025	Narrow palpebral fissure	1	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68	.	1
HP:0200007	HP:0000581	Blepharophimosis	1	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	.	14
HP:0200007	HP:0012745	Short palpebral fissure	1	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	.	14
HP:0200007	HP:0012745	Short palpebral fissure	1	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.	19
HP:0200007	HP:0000581	Blepharophimosis	1	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.	19
HP:0200007	HP:0012745	Short palpebral fissure	1	TXNL4A CL E G H	10907	30551	ORPHA:1200	Burn-McKeown syndrome	HP:0040281 - Very frequent	19
HP:0200007	HP:0012745	Short palpebral fissure	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	2
HP:0200007	HP:0000581	Blepharophimosis	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0200007	HP:0012745	Short palpebral fissure	1	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040282 - Frequent	13
HP:0200007	HP:0000581	Blepharophimosis	1	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040282 - Frequent	13
HP:0200007	HP:0012745	Short palpebral fissure	1	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0200007	HP:0000581	Blepharophimosis	1	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0200007	HP:0012745	Short palpebral fissure	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	.	27
HP:0200007	HP:0012745	Short palpebral fissure	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27
HP:0200007	HP:0000581	Blepharophimosis	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0200007	HP:0012745	Short palpebral fissure	1	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040282 - Frequent	20
HP:0200007	HP:0000637	Long palpebral fissure	1	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional	20
HP:0200007	HP:0000581	Blepharophimosis	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0200007	HP:0045025	Narrow palpebral fissure	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0200007	HP:0000637	Long palpebral fissure	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	98
HP:0200007	HP:0000637	Long palpebral fissure	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0200007	HP:0012745	Short palpebral fissure	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	125
HP:0200007	HP:0012745	Short palpebral fissure	1	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22		16
HP:0200007	HP:0000581	Blepharophimosis	1	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0200007	HP:0012745	Short palpebral fissure	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83
HP:0200007	HP:0000581	Blepharophimosis	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83
HP:0200007	HP:0012745	Short palpebral fissure	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83
HP:0200007	HP:0045025	Narrow palpebral fissure	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0200007	HP:0012745	Short palpebral fissure	1	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	.	4
HP:0200007	HP:0007946	Unilateral narrow palpebral fissure	2	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0200007	HP:0000661	Palpebral fissure narrowing on adduction	2	MAFB CL E G H	9935	6408	OMIM:617041	Duane retraction syndrome 3 with or without deafness	.	63
HP:0200007	HP:0007946	Unilateral narrow palpebral fissure	2	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB		8
HP:0200007	HP:0000661	Palpebral fissure narrowing on adduction	2	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0200007	HP:0007946	Unilateral narrow palpebral fissure	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0200007	HP:0007946	Unilateral narrow palpebral fissure	2	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	.	22
HP:0200007	HP:0007946	Unilateral narrow palpebral fissure	2	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis

Genes (275) :ACTB ACTG1 ADNP AFF3 ALDH1A3 ALG14 ALX4 ANK1 ANKRD11 AP3B2 ARID2 ARX ATP6V1A ATR AUTS2 B3GLCT B9D2 BAZ1B BCL11B BCL7B BCOR BCR BICRA BMP1 BPTF BRAF BRCA1 BRCA2 BRIP1 BRPF1 BUD23 CACNA1G CAMK2G CCNK CDC42BPB CDK13 CEP152 CEP55 CEP57 CHD4 CHN1 CLIP2 CLP1 CLTCL1 COG7 COL25A1 COLEC10 COLEC11 CREBBP CRKL CUL4B DACT1 DCHS1 DDB1 DDR2 DDX6 DGCR2 DGCR6 DGCR8 DLK1 DNAJC30 DNMT3A DOCK6 DONSON DPH5 DVL1 DVL3 EDEM3 EFEMP2 EIF4H EIF5A ELN EP300 ERCC1 ERCC4 ERCC6 ERMARD ESS2 EXOSC2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBXO28 FIBP FKBP6 FOXG1 FOXL2 FOXP1 FTSJ1 FZD2 GATAD2B GJA1 GJA5 GJA8 GNB2 GPC6 GPKOW GTF2I GTF2IRD1 GTF2IRD2 H4C5 HDAC4 HHAT HNRNPH1 HNRNPH2 HNRNPK HNRNPR HSPG2 HUWE1 INPPL1 INTS1 IPO8 IRX5 KANSL1 KAT6B KCNJ2 KCNJ5 KCTD1 KDM4B KDM6A KIF15 KMT2A KMT2D KPTN KRAS LARP7 LIFR LIG4 LIMK1 LMBRD2 LMNA LMNB1 MAD2L2 MADD MAFB MAGEL2 MAP2K1 MAP2K2 MAPK1 MAPK8IP3 MAPKAPK5 MAPRE2 MASP1 MCTP2 MECP2 MED12 MED13 MEG3 METTL27 MLXIPL MOGS MUSK MYCN MYH3 MYL11 NCF1 NFIB NSUN2 NUAK2 NXN ODC1 ORC1 OTUD6B PALB2 PAX3 PCGF2 PCLO PCNT PDE4D PGAP2 PGAP3 PGM3 PHF6 PIEZO2 PIGL PIGO PIGV PIGW PIGY PIK3R2 POLA1 POLR1A POLR3A PPP1R12A PRIM1 PRKAR1B PRMT7 PRR12 PUF60 PURA PYCR1 RAB18 RAC1 RAD51 RAD51C RBM10 RBMX RBPJ RECQL4 RERE RFC2 RFWD3 RHOA RIPK4 RNU4ATAC ROR2 RPL10 RTL1 SALL1 SALL4 SCARF2 SEPTIN9 SETBP1 SETD5 SF3B2 SIN3A SLC25A24 SLC2A10 SLC6A17 SLX4 SMAD4 SMARCA2 SMO SMOC1 SMPD4 SNX14 SOX11 SOX6 SOX9 SPEN SPOP SPTBN1 SRCAP STAC3 STRA6 STT3A STX1A TBC1D2B TBL1XR1 TBL2 TBX1 TBX15 TENM3 TGFB3 THOC6 TLK2 TMEM107 TMEM270 TP63 TRIP12 TRMT1 TUBB TXNL4A UBE2T UBE3B UGDH USP9X VPS37D WAC WDR35 WNT5A XRCC2 ZBTB18 ZFHX4 ZMPSTE24 ZMYM2 ZNF148

Diseases (277) :ORPHA:2995 OMIM:243310 OMIM:614583 ORPHA:404448 OMIM:615873 OMIM:619297 OMIM:615113 OMIM:619036 OMIM:613451 ORPHA:251066 OMIM:148050 ORPHA:2332 OMIM:617276 OMIM:617808 OMIM:300419 OMIM:617403 OMIM:210600 ORPHA:352490 OMIM:615834 ORPHA:709 OMIM:614175 ORPHA:904 OMIM:617237 OMIM:618092 OMIM:300166 ORPHA:261330 OMIM:619325 OMIM:614856 OMIM:617755 ORPHA:1340 ORPHA:84 OMIM:617883 OMIM:617333 OMIM:618087 OMIM:618522 OMIM:618147 OMIM:619841 OMIM:617360 OMIM:613823 OMIM:236500 OMIM:614114 OMIM:617159 ORPHA:233 ORPHA:411493 OMIM:615803 ORPHA:453510 OMIM:608779 ORPHA:91411 ORPHA:293843 OMIM:248340 OMIM:265050 OMIM:618332 ORPHA:85293 ORPHA:857 ORPHA:314679 OMIM:601390 OMIM:619426 OMIM:618175 OMIM:618653 OMIM:192430 ORPHA:254528 ORPHA:96334 OMIM:615879 ORPHA:404443 OMIM:614219 OMIM:251230 OMIM:620070 ORPHA:3107 OMIM:180700 OMIM:619493 OMIM:614437 OMIM:619376 OMIM:194050 OMIM:618333 OMIM:610758 OMIM:214150 ORPHA:75857 OMIM:617763 OMIM:227646 OMIM:616006 OMIM:615546 OMIM:619777 ORPHA:500095 ORPHA:261144 OMIM:110100 ORPHA:572333 ORPHA:391372 OMIM:309549 OMIM:615074 ORPHA:363686 OMIM:164200 OMIM:257850 OMIM:612474 OMIM:619503 OMIM:258315 ORPHA:2570 OMIM:619950 OMIM:600430 OMIM:619797 ORPHA:1422 OMIM:620083 OMIM:300986 OMIM:616580 ORPHA:352665 ORPHA:453504 OMIM:620073 ORPHA:800 OMIM:255800 OMIM:309590 OMIM:258480 OMIM:618571 OMIM:619472 OMIM:611174 ORPHA:363958 OMIM:610443 ORPHA:363965 ORPHA:3047 OMIM:603736 OMIM:170390 ORPHA:37553 OMIM:181270 OMIM:619320 OMIM:147920 OMIM:300867 ORPHA:261323 OMIM:605130 ORPHA:319182 ORPHA:397612 ORPHA:3339 ORPHA:319671 OMIM:601559 ORPHA:235 OMIM:619694 ORPHA:1662 OMIM:619179 OMIM:619004 OMIM:619005 OMIM:617041 OMIM:615547 OMIM:618443 OMIM:619869 OMIM:616734 OMIM:257920 ORPHA:1596 ORPHA:1762 ORPHA:293707 OMIM:300895 OMIM:618009 OMIM:606056 ORPHA:79330 OMIM:208150 OMIM:164280 ORPHA:391641 OMIM:193700 OMIM:619110 OMIM:618286 OMIM:611091 OMIM:619452 ORPHA:1507 OMIM:619075 ORPHA:544488 OMIM:224690 ORPHA:505237 OMIM:617452 ORPHA:1529 ORPHA:896 OMIM:193500 OMIM:148820 OMIM:618371 OMIM:608027 ORPHA:2637 ORPHA:439822 ORPHA:247262 ORPHA:443811 OMIM:301900 ORPHA:127 OMIM:108145 ORPHA:2461 OMIM:248700 OMIM:614749 OMIM:239300 OMIM:603387 OMIM:301030 ORPHA:1200 OMIM:264090 OMIM:618820 OMIM:620005 OMIM:619680 OMIM:617157 OMIM:619539 ORPHA:508498 OMIM:616158 ORPHA:438216 OMIM:614438 OMIM:614222 OMIM:617751 ORPHA:500159 ORPHA:2886 OMIM:311900 OMIM:300238 OMIM:614814 OMIM:266280 OMIM:268400 OMIM:616975 ORPHA:494344 OMIM:618727 OMIM:263650 ORPHA:353298 OMIM:616651 OMIM:268310 ORPHA:459070 ORPHA:959 OMIM:607323 OMIM:600920 OMIM:162100 OMIM:616078 ORPHA:404440 OMIM:164210 OMIM:613406 OMIM:612289 OMIM:208050 ORPHA:3342 OMIM:616269 ORPHA:457212 OMIM:613951 ORPHA:2588 OMIM:139210 OMIM:619293 ORPHA:2728 ORPHA:3051 OMIM:601358 OMIM:601707 ORPHA:1106 OMIM:206920 OMIM:618622 ORPHA:397709 OMIM:616354 OMIM:615866 OMIM:618971 OMIM:114290 OMIM:619312 OMIM:618828 OMIM:618829 OMIM:619475 OMIM:619595 OMIM:255995 OMIM:601186 OMIM:619714 ORPHA:397973 OMIM:616944 ORPHA:487825 OMIM:602342 OMIM:188400 OMIM:260660 ORPHA:93333 OMIM:615145 OMIM:615582 OMIM:613680 OMIM:618050 OMIM:617563 OMIM:604292 OMIM:617752 OMIM:618302 OMIM:156610 OMIM:608572 OMIM:244450 ORPHA:2707 OMIM:618792 OMIM:300968 ORPHA:480880 ORPHA:284169 ORPHA:466950 OMIM:613610 OMIM:612337 OMIM:275210 OMIM:619522 OMIM:617260

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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