Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the palpebral fissures (HP:0008050)help
Parent Node:
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Slanting of the palpebral fissure (HP:0200006)help
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Downslanted palpebral fissures (HP:0000494)help
Term ID: 494
Name: Downslanted palpebral fissures
Synonym: Antimongoloid eye slant; Antimongoloid slant of palpebral fissures; Antimongoloid slanted palpebral fissures; Down slanting palpebral fissures; Down-slanted palpebral fissures; Down-slanting palpebral fissure; Down-slanting palpebral fissures; Downslanting palpebral fissure; Downslanting palpebral fissures; Downward slanted palpebral fissures; Downward slanting of the opening between the eyelids; Downward slanting palpebral fissures; Downward-slanting palpebral fissures; Palpebral fissures down-slanted
Definition: The palpebral fissure inclination is more than two standard deviations below the mean.
Comments:
Reference: HP:0000494
Genes and Diseases:
 
       Child Nodes:

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..expandUpslanted palpebral fissure (HP:0000582) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000494HP:0000494Downslanted palpebral fissures0A2ML1 CL E G H144568648ORPHA12149223336610627
HP:0000494HP:0000494Downslanted palpebral fissures0ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM11235223137150
HP:0000494HP:0000494Downslanted palpebral fissures0ACSL4 CL E G H218286818ORPHA172093571300157
HP:0000494HP:0000494Downslanted palpebral fissures0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA165224132102630
HP:0000494HP:0000494Downslanted palpebral fissures0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA148261144102560
HP:0000494HP:0000494Downslanted palpebral fissures0ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM112577218604539
HP:0000494HP:0000494Downslanted palpebral fissures0AHDC1 CL E G H27245615829Xia-Gibbs syndrome615829C4014419OMIM13418425230615790
HP:0000494HP:0000494Downslanted palpebral fissures0AKT1 CL E G H207176920Proteus syndrome176920C0085261OMIM112269391164730
HP:0000494HP:0000494Downslanted palpebral fissures0ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM161307179603178
HP:0000494HP:0000494Downslanted palpebral fissures0AMMECR1 CL E G H994986818ORPHA15181467300195
HP:0000494HP:0000494Downslanted palpebral fissures0AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM15181467300195
HP:0000494HP:0000494Downslanted palpebral fissures0AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM11898469102771
HP:0000494HP:0000494Downslanted palpebral fissures0AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM118178573607244
HP:0000494HP:0000494Downslanted palpebral fissures0APC CL E G H324261584ORPHA119517734583611731
HP:0000494HP:0000494Downslanted palpebral fissures0APC CL E G H3243258Lindstrom syndromeORPHA119517734583611731
HP:0000494HP:0000494Downslanted palpebral fissures0APC2 CL E G H10297821ORPHA1315624036612034
HP:0000494HP:0000494Downslanted palpebral fissures0ARHGEF2 CL E G H9181617523Neurodevelopmental disorder with midbrain and hindbrain malformations617523C4479613OMIM1231682607560
HP:0000494HP:0000494Downslanted palpebral fissures0ARID1B CL E G H57492251056ORPHA118857518040614556
HP:0000494HP:0000494Downslanted palpebral fissures0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118857518040614556
HP:0000494HP:0000494Downslanted palpebral fissures0ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM11111518037609539
HP:0000494HP:0000494Downslanted palpebral fissures0ASCL1 CL E G H429209880Congenital central hypoventilation209880C1275808OMIM1630738100790
HP:0000494HP:0000494Downslanted palpebral fissures0ASPH CL E G H444601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs601552C1832167OMIM1449757600582
HP:0000494HP:0000494Downslanted palpebral fissures0ASXL3 CL E G H80816615485Bainbridge-Ropers syndrome615485C3809650OMIM15017429357615115
HP:0000494HP:0000494Downslanted palpebral fissures0ATP6V0A2 CL E G H23545357074ORPHA15630918481611716
HP:0000494HP:0000494Downslanted palpebral fissures0ATP6V0A2 CL E G H235452834ORPHA15630918481611716
HP:0000494HP:0000494Downslanted palpebral fissures0ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM15630918481611716
HP:0000494HP:0000494Downslanted palpebral fissures0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM15630918481611716
HP:0000494HP:0000494Downslanted palpebral fissures0ATP6V1A CL E G H523357074ORPHA1947851607027
HP:0000494HP:0000494Downslanted palpebral fissures0ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1947851607027
HP:0000494HP:0000494Downslanted palpebral fissures0ATP6V1E1 CL E G H529357074ORPHA1278857108746
HP:0000494HP:0000494Downslanted palpebral fissures0ATR CL E G H545808Baker Vinters syndromeORPHA134404882601215
HP:0000494HP:0000494Downslanted palpebral fissures0ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM134404882601215
HP:0000494HP:0000494Downslanted palpebral fissures0ATRIP CL E G H84126808Baker Vinters syndromeORPHA1218333499606605
HP:0000494HP:0000494Downslanted palpebral fissures0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM16224214262607270
HP:0000494HP:0000494Downslanted palpebral fissures0B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM11343923606374
HP:0000494HP:0000494Downslanted palpebral fissures0BCL11A CL E G H53335617101Intellectual developmental disorder with persistence of fetal hemoglobin617101C4310833OMIM1328713221606557
HP:0000494HP:0000494Downslanted palpebral fissures0BGN CL E G H633300989Meester-loeys syndrome300989C4310811OMIM192261044301870
HP:0000494HP:0000494Downslanted palpebral fissures0BMP2 CL E G H650261295ORPHA137691069112261
HP:0000494HP:0000494Downslanted palpebral fissures0BMP2 CL E G H650617877SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES617877CN807949OMIM137691069112261
HP:0000494HP:0000494Downslanted palpebral fissures0BPTF CL E G H2186529962ORPHA114803581601819
HP:0000494HP:0000494Downslanted palpebral fissures0BRAF CL E G H673648ORPHA1684901097164757
HP:0000494HP:0000494Downslanted palpebral fissures0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1684901097164757
HP:0000494HP:0000494Downslanted palpebral fissures0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA1684901097164757
HP:0000494HP:0000494Downslanted palpebral fissures0BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM1684901097164757
HP:0000494HP:0000494Downslanted palpebral fissures0BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM11811514255602410
HP:0000494HP:0000494Downslanted palpebral fissures0C12orf57 CL E G H113246218340Temtamy syndrome218340C1857512OMIM1812529521615140
HP:0000494HP:0000494Downslanted palpebral fissures0CAMK2A CL E G H815617798MENTAL RETARDATION, AUTOSOMAL DOMINANT 53617798C4540481OMIM116351460114078
HP:0000494HP:0000494Downslanted palpebral fissures0CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM11123218806611501
HP:0000494HP:0000494Downslanted palpebral fissures0CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM1436101541165360
HP:0000494HP:0000494Downslanted palpebral fissures0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA1722128909300859
HP:0000494HP:0000494Downslanted palpebral fissures0CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM111331736116952
HP:0000494HP:0000494Downslanted palpebral fissures0CDH11 CL E G H10091299ORPHA110401750600023
HP:0000494HP:0000494Downslanted palpebral fissures0CDH11 CL E G H1009211380Brachioskeletogenital syndrome211380C0809936OMIM110401750600023
HP:0000494HP:0000494Downslanted palpebral fissures0CENPE CL E G H1062808Baker Vinters syndromeORPHA141001856117143
HP:0000494HP:0000494Downslanted palpebral fissures0CENPJ CL E G H55835808Baker Vinters syndromeORPHA11028517272609279
HP:0000494HP:0000494Downslanted palpebral fissures0CEP152 CL E G H22995808Baker Vinters syndromeORPHA12025229298613529
HP:0000494HP:0000494Downslanted palpebral fissures0CHD1 CL E G H1105529965ORPHA18391915602118
HP:0000494HP:0000494Downslanted palpebral fissures0CHD1 CL E G H1105617682PILAROWSKI-BJORNSSON SYNDROME617682C4540131OMIM18391915602118
HP:0000494HP:0000494Downslanted palpebral fissures0CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1884126620626608892
HP:0000494HP:0000494Downslanted palpebral fissures0CHRNG CL E G H11462990ORPHA1351601967100730
HP:0000494HP:0000494Downslanted palpebral fissures0CHRNG CL E G H1146265000Multiple pterygium syndrome Escobar type265000C0265261OMIM1351601967100730
HP:0000494HP:0000494Downslanted palpebral fissures0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM1229624464608429
HP:0000494HP:0000494Downslanted palpebral fissures0CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1392651971603799
HP:0000494HP:0000494Downslanted palpebral fissures0CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA174226877616174
HP:0000494HP:0000494Downslanted palpebral fissures0COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM131346545606973
HP:0000494HP:0000494Downslanted palpebral fissures0COL11A1 CL E G H13012021ORPHA11065602186120280
HP:0000494HP:0000494Downslanted palpebral fissures0COL11A2 CL E G H13022021ORPHA1594712187120290
HP:0000494HP:0000494Downslanted palpebral fissures0COLEC10 CL E G H10584293843ORPHA14532220607620
HP:0000494HP:0000494Downslanted palpebral fissures0COLEC11 CL E G H78989293843ORPHA1135917213612502
HP:0000494HP:0000494Downslanted palpebral fissures0COLEC11 CL E G H78989265050Carnevale syndrome265050C0796279OMIM1135917213612502
HP:0000494HP:0000494Downslanted palpebral fissures0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0000494HP:0000494Downslanted palpebral fissures0CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA1371612516604275
HP:0000494HP:0000494Downslanted palpebral fissures0CUL4B CL E G H845085293ORPHA1402472555300304
HP:0000494HP:0000494Downslanted palpebral fissures0CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM175310664617170
HP:0000494HP:0000494Downslanted palpebral fissures0DHODH CL E G H1723263750Miller syndrome263750C0265257OMIM1201252867126064
HP:0000494HP:0000494Downslanted palpebral fissures0DHODH CL E G H1723246Schisis associationORPHA1201252867126064
HP:0000494HP:0000494Downslanted palpebral fissures0DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM1116027030617048
HP:0000494HP:0000494Downslanted palpebral fissures0DOCK3 CL E G H1795618292618292618292OMIM15342989603123
HP:0000494HP:0000494Downslanted palpebral fissures0DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM19149964601671
HP:0000494HP:0000494Downslanted palpebral fissures0DPH1 CL E G H1801616901Developmental delay with short stature, dysmorphic features, and sparse hair616901C4310801OMIM16923003603527
HP:0000494HP:0000494Downslanted palpebral fissures0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM191203005603503
HP:0000494HP:0000494Downslanted palpebral fissures0DSE CL E G H29940615539Ehlers-Danlos syndrome, musculocontractural type 2615539C3809845OMIM1311521144605942
HP:0000494HP:0000494Downslanted palpebral fissures0DVL1 CL E G H1855180700Robinow syndrome180700C0265205OMIM1192443084601365
HP:0000494HP:0000494Downslanted palpebral fissures0DVL3 CL E G H1857180700Robinow syndrome180700C0265205OMIM115773087601368
HP:0000494HP:0000494Downslanted palpebral fissures0DYNC1H1 CL E G H1778614563Mental retardation, autosomal dominant 13614563C3281202OMIM17714532961600112
HP:0000494HP:0000494Downslanted palpebral fissures0DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM11417324595617083
HP:0000494HP:0000494Downslanted palpebral fissures0EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM12614719087607407
HP:0000494HP:0000494Downslanted palpebral fissures0EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM1912373133300205
HP:0000494HP:0000494Downslanted palpebral fissures0EDN3 CL E G H1908209880Congenital central hypoventilation209880C1275808OMIM1211173178131242
HP:0000494HP:0000494Downslanted palpebral fissures0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM19493188605984
HP:0000494HP:0000494Downslanted palpebral fissures0EEF1A2 CL E G H1917616393Mental retardation, autosomal dominant 38616393C4225343OMIM1122603192602959
HP:0000494HP:0000494Downslanted palpebral fissures0EFEMP2 CL E G H30008614437Autosomal recessive cutis laxa type 1B614437C3280798OMIM1171803219604633
HP:0000494HP:0000494Downslanted palpebral fissures0EFNB1 CL E G H19471520ORPHA11181813226300035
HP:0000494HP:0000494Downslanted palpebral fissures0EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM11181813226300035
HP:0000494HP:0000494Downslanted palpebral fissures0EFTUD2 CL E G H9343610536Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate610536C1864652OMIM110112430858603892
HP:0000494HP:0000494Downslanted palpebral fissures0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0000494HP:0000494Downslanted palpebral fissures0EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM11074153373602700
HP:0000494HP:0000494Downslanted palpebral fissures0ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM13121527230609353
HP:0000494HP:0000494Downslanted palpebral fissures0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM1422353527601573
HP:0000494HP:0000494Downslanted palpebral fissures0FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM12813922140611061
HP:0000494HP:0000494Downslanted palpebral fissures0FBN1 CL E G H22002462ORPHA1272142843603134797
HP:0000494HP:0000494Downslanted palpebral fissures0FBN1 CL E G H2200284979ORPHA1272142843603134797
HP:0000494HP:0000494Downslanted palpebral fissures0FBN1 CL E G H2200616914Marfan lipodystrophy syndrome616914C4310796OMIM1272142843603134797
HP:0000494HP:0000494Downslanted palpebral fissures0FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM1272142843603134797
HP:0000494HP:0000494Downslanted palpebral fissures0FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM14843413601605654
HP:0000494HP:0000494Downslanted palpebral fissures0FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM1267713590607871
HP:0000494HP:0000494Downslanted palpebral fissures0FGD1 CL E G H2245915ORPHA1512763663300546
HP:0000494HP:0000494Downslanted palpebral fissures0FGD1 CL E G H2245305400Aarskog syndrome305400C0175701OMIM1512763663300546
HP:0000494HP:0000494Downslanted palpebral fissures0FGF10 CL E G H2255149730Levy-Hollister syndrome149730C0265269OMIM116473666602115
HP:0000494HP:0000494Downslanted palpebral fissures0FGF3 CL E G H224890024ORPHA120353681164950
HP:0000494HP:0000494Downslanted palpebral fissures0FGFR1 CL E G H22602117Encephalopathy recurrent of childhoodORPHA12653883688136350
HP:0000494HP:0000494Downslanted palpebral fissures0FGFR1 CL E G H2260166250Osteoglophonic dysplasia166250C0432283OMIM12653883688136350
HP:0000494HP:0000494Downslanted palpebral fissures0FGFR1 CL E G H2260101600Pfeiffer syndrome101600C1863356OMIM12653883688136350
HP:0000494HP:0000494Downslanted palpebral fissures0FGFR2 CL E G H22631555ORPHA11593363689176943
HP:0000494HP:0000494Downslanted palpebral fissures0FGFR2 CL E G H226387ORPHA11593363689176943
HP:0000494HP:0000494Downslanted palpebral fissures0FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM11593363689176943
HP:0000494HP:0000494Downslanted palpebral fissures0FGFR2 CL E G H2263123790Cutis Gyrata syndrome of Beare and Stevenson123790C1852406OMIM11593363689176943
HP:0000494HP:0000494Downslanted palpebral fissures0FGFR2 CL E G H2263149730Levy-Hollister syndrome149730C0265269OMIM11593363689176943
HP:0000494HP:0000494Downslanted palpebral fissures0FGFR2 CL E G H2263101600Pfeiffer syndrome101600C1863356OMIM11593363689176943
HP:0000494HP:0000494Downslanted palpebral fissures0FGFR3 CL E G H2261149730Levy-Hollister syndrome149730C0265269OMIM1774313690134934
HP:0000494HP:0000494Downslanted palpebral fissures0FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM1774313690134934
HP:0000494HP:0000494Downslanted palpebral fissures0FHL1 CL E G H2273300280Uruguay faciocardiomusculoskeletal syndrome300280C1846010OMIM1623703702300163
HP:0000494HP:0000494Downslanted palpebral fissures0FIBP CL E G H9158617107Thauvin-Robinet-Faivre syndrome617107C4310715OMIM12293705608296
HP:0000494HP:0000494Downslanted palpebral fissures0FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1215103627310607273
HP:0000494HP:0000494Downslanted palpebral fissures0FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA171253749193067
HP:0000494HP:0000494Downslanted palpebral fissures0FLNA CL E G H231690652ORPHA127114723754300017
HP:0000494HP:0000494Downslanted palpebral fissures0FLNA CL E G H231690650ORPHA127114723754300017
HP:0000494HP:0000494Downslanted palpebral fissures0FLNA CL E G H23161826Dexamethasone sensitive hypertensionORPHA127114723754300017
HP:0000494HP:0000494Downslanted palpebral fissures0FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM127114723754300017
HP:0000494HP:0000494Downslanted palpebral fissures0FLNA CL E G H2316300048Intestinal pseudoobstruction neuronal chronic idiopathic X-linked300048C2746068OMIM127114723754300017
HP:0000494HP:0000494Downslanted palpebral fissures0FLNA CL E G H2316311300Oto-palato-digital syndrome, type I311300C0265251OMIM127114723754300017
HP:0000494HP:0000494Downslanted palpebral fissures0FLNA CL E G H2316304120Oto-palato-digital syndrome, type II304120C1844696OMIM127114723754300017
HP:0000494HP:0000494Downslanted palpebral fissures0FOXG1 CL E G H2290261144ORPHA11693573811164874
HP:0000494HP:0000494Downslanted palpebral fissures0FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM1762413823605515
HP:0000494HP:0000494Downslanted palpebral fissures0GDNF CL E G H2668209880Congenital central hypoventilation209880C1275808OMIM1111194232600837
HP:0000494HP:0000494Downslanted palpebral fissures0GJA1 CL E G H2697257850Oculodentodigital dysplasia, autosomal recessive257850C2749477OMIM11091414274121014
HP:0000494HP:0000494Downslanted palpebral fissures0GLI3 CL E G H2737672Angiofollicular ganglionic hyperplasiaORPHA12445374319165240
HP:0000494HP:0000494Downslanted palpebral fissures0GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA1985264451300037
HP:0000494HP:0000494Downslanted palpebral fissures0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM1985264451300037
HP:0000494HP:0000494Downslanted palpebral fissures0GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA151964452300168
HP:0000494HP:0000494Downslanted palpebral fissures0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM151964452300168
HP:0000494HP:0000494Downslanted palpebral fissures0GSC CL E G H145258602471Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities602471C1865361OMIM17364612138890
HP:0000494HP:0000494Downslanted palpebral fissures0HBA1 CL E G H303998791ORPHA12173464823141800
HP:0000494HP:0000494Downslanted palpebral fissures0HBA2 CL E G H304098791ORPHA12962744824141850
HP:0000494HP:0000494Downslanted palpebral fissures0HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM191734867605109
HP:0000494HP:0000494Downslanted palpebral fissures0HNRNPK CL E G H3190616580AU-KLINE SYNDROME616580C4225274OMIM115715044600712
HP:0000494HP:0000494Downslanted palpebral fissures0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM1342955173190020
HP:0000494HP:0000494Downslanted palpebral fissures0IGBP1 CL E G H347652055ORPHA121425461300139
HP:0000494HP:0000494Downslanted palpebral fissures0IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM121425461300139
HP:0000494HP:0000494Downslanted palpebral fissures0KAT6B CL E G H23522648ORPHA17622817582605880
HP:0000494HP:0000494Downslanted palpebral fissures0KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM17622817582605880
HP:0000494HP:0000494Downslanted palpebral fissures0KCNE5 CL E G H2363086818ORPHA141736241300328
HP:0000494HP:0000494Downslanted palpebral fissures0KDM5B CL E G H10765618109MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65618109CN253823OMIM1335818039605393
HP:0000494HP:0000494Downslanted palpebral fissures0KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM1701726388148760
HP:0000494HP:0000494Downslanted palpebral fissures0KIF1BP CL E G H26128609460Goldberg-Shprintzen megacolon syndrome609460C1836123OMIM11023419609367
HP:0000494HP:0000494Downslanted palpebral fissures0KIF7 CL E G H374654200990Acrocallosal syndrome, Schinzel type200990C0796147OMIM14538630497611254
HP:0000494HP:0000494Downslanted palpebral fissures0KMT2A CL E G H4297605130Wiedemann-Steiner syndrome605130C1854630OMIM11273797132159555
HP:0000494HP:0000494Downslanted palpebral fissures0KPTN CL E G H11133615637Mental retardation, autosomal recessive 41615637C3810225OMIM15686404615620
HP:0000494HP:0000494Downslanted palpebral fissures0KRAS CL E G H3845648ORPHA1452746407190070
HP:0000494HP:0000494Downslanted palpebral fissures0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA1452746407190070
HP:0000494HP:0000494Downslanted palpebral fissures0KRAS CL E G H3845609942Noonan syndrome 3609942C1860991OMIM1452746407190070
HP:0000494HP:0000494Downslanted palpebral fissures0LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA141756556604407
HP:0000494HP:0000494Downslanted palpebral fissures0LMNA CL E G H40001662ORPHA157411526636150330
HP:0000494HP:0000494Downslanted palpebral fissures0LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA1466006694600073
HP:0000494HP:0000494Downslanted palpebral fissures0LRP4 CL E G H40383258Lindstrom syndromeORPHA1343756696604270
HP:0000494HP:0000494Downslanted palpebral fissures0LRP4 CL E G H4038212780Syndactyly Cenani Lenz type212780C1859309OMIM1343756696604270
HP:0000494HP:0000494Downslanted palpebral fissures0LZTR1 CL E G H8216648ORPHA1866996742600574
HP:0000494HP:0000494Downslanted palpebral fissures0LZTR1 CL E G H8216616564Noonan syndrome 10616564C4225280OMIM1866996742600574
HP:0000494HP:0000494Downslanted palpebral fissures0MAN1B1 CL E G H11253614202Mental retardation, autosomal recessive 15614202C3280127OMIM1272596823604346
HP:0000494HP:0000494Downslanted palpebral fissures0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA1232136840176872
HP:0000494HP:0000494Downslanted palpebral fissures0MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM1232136840176872
HP:0000494HP:0000494Downslanted palpebral fissures0MAP2K2 CL E G H5605638ORPHA1353386842601263
HP:0000494HP:0000494Downslanted palpebral fissures0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA1353386842601263
HP:0000494HP:0000494Downslanted palpebral fissures0MAP3K7 CL E G H68851826Dexamethasone sensitive hypertensionORPHA113646859602614
HP:0000494HP:0000494Downslanted palpebral fissures0MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM113646859602614
HP:0000494HP:0000494Downslanted palpebral fissures0MAPRE2 CL E G H10982616734Skin creases, congenital symmetric circumferential, 2616734C4225225OMIM14606891605789
HP:0000494HP:0000494Downslanted palpebral fissures0MASP1 CL E G H5648293843ORPHA1221226901600521
HP:0000494HP:0000494Downslanted palpebral fissures0MED12 CL E G H9968305450FG syndrome305450C0220769OMIM13465011957300188
HP:0000494HP:0000494Downslanted palpebral fissures0MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM1529728845610197
HP:0000494HP:0000494Downslanted palpebral fissures0MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM151077045602616
HP:0000494HP:0000494Downslanted palpebral fissures0MPDZ CL E G H8777615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies615219C3554691OMIM1242467208603785
HP:0000494HP:0000494Downslanted palpebral fissures0MTOR CL E G H2475616638Smith-Kingsmore syndrome616638C4225259OMIM1335563942601231
HP:0000494HP:0000494Downslanted palpebral fissures0MVK CL E G H459829ORPHA11832777530251170
HP:0000494HP:0000494Downslanted palpebral fissures0MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM11832777530251170
HP:0000494HP:0000494Downslanted palpebral fissures0MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM1453157573160720
HP:0000494HP:0000494Downslanted palpebral fissures0MYH3 CL E G H4621178110Distal arthrogryposis type 8178110C1867440OMIM1453157573160720
HP:0000494HP:0000494Downslanted palpebral fissures0MYH3 CL E G H46212053Ectodermal dysplasia neurosensory deafnessORPHA1453157573160720
HP:0000494HP:0000494Downslanted palpebral fissures0MYMK CL E G H3898271358ORPHA175733778615345
HP:0000494HP:0000494Downslanted palpebral fissures0MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM175733778615345
HP:0000494HP:0000494Downslanted palpebral fissures0NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM11029618704300013
HP:0000494HP:0000494Downslanted palpebral fissures0NALCN CL E G H2592322053Ectodermal dysplasia neurosensory deafnessORPHA16524719082611549
HP:0000494HP:0000494Downslanted palpebral fissures0NECTIN1 CL E G H58183253Limb dystoniaORPHA1151959706600644
HP:0000494HP:0000494Downslanted palpebral fissures0NELFA CL E G H7469280Halal Setton Wang syndromeORPHA1416712768606026
HP:0000494HP:0000494Downslanted palpebral fissures0NF1 CL E G H4763638ORPHA1301164917765613113
HP:0000494HP:0000494Downslanted palpebral fissures0NFIB CL E G H4781618286618286618286OMIM1171387785600728
HP:0000494HP:0000494Downslanted palpebral fissures0NFIX CL E G H4784614753Sotos syndrome 2614753C3553660OMIM11041547788164005
HP:0000494HP:0000494Downslanted palpebral fissures0NOTCH2 CL E G H4853955ORPHA1813947882600275
HP:0000494HP:0000494Downslanted palpebral fissures0NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM1813947882600275
HP:0000494HP:0000494Downslanted palpebral fissures0NOTCH3 CL E G H48542789ORPHA13795917883600276
HP:0000494HP:0000494Downslanted palpebral fissures0NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM13795917883600276
HP:0000494HP:0000494Downslanted palpebral fissures0NRAS CL E G H4893648ORPHA1141817989164790
HP:0000494HP:0000494Downslanted palpebral fissures0NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM1141817989164790
HP:0000494HP:0000494Downslanted palpebral fissures0NSD1 CL E G H64324821ORPHA152589614234606681
HP:0000494HP:0000494Downslanted palpebral fissures0NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM152589614234606681
HP:0000494HP:0000494Downslanted palpebral fissures0NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA11422012766602952
HP:0000494HP:0000494Downslanted palpebral fissures0OFD1 CL E G H84812750ORPHA11625102567300170
HP:0000494HP:0000494Downslanted palpebral fissures0OFD1 CL E G H8481300804Joubert syndrome 10300804C2749019OMIM11625102567300170
HP:0000494HP:0000494Downslanted palpebral fissures0OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM11625102567300170
HP:0000494HP:0000494Downslanted palpebral fissures0ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM169017151607213
HP:0000494HP:0000494Downslanted palpebral fissures0OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM1174618028610107
HP:0000494HP:0000494Downslanted palpebral fissures0OTUD6B CL E G H51633505237ORPHA164724281612021
HP:0000494HP:0000494Downslanted palpebral fissures0OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM164724281612021
HP:0000494HP:0000494Downslanted palpebral fissures0PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM129130032607492
HP:0000494HP:0000494Downslanted palpebral fissures0PACS2 CL E G H23241618067EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66618067CN252658OMIM129223794610423
HP:0000494HP:0000494Downslanted palpebral fissures0PAFAH1B1 CL E G H5048217385ORPHA11702558574601545
HP:0000494HP:0000494Downslanted palpebral fissures0PAX3 CL E G H5077896ORPHA11531818617606597
HP:0000494HP:0000494Downslanted palpebral fissures0PAX3 CL E G H50771529ORPHA11531818617606597
HP:0000494HP:0000494Downslanted palpebral fissures0PCNT CL E G H5116808Baker Vinters syndromeORPHA18888516068605925
HP:0000494HP:0000494Downslanted palpebral fissures0PDGFRB CL E G H5159616592Kosaki overgrowth syndrome616592C4225270OMIM1241508804173410
HP:0000494HP:0000494Downslanted palpebral fissures0PEX3 CL E G H8504614882Peroxisome biogenesis disorder 10A614882C3553999OMIM1101168858603164
HP:0000494HP:0000494Downslanted palpebral fissures0PHOX2B CL E G H8929209880Congenital central hypoventilation209880C1275808OMIM1883879143603851
HP:0000494HP:0000494Downslanted palpebral fissures0PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM1573798975171834
HP:0000494HP:0000494Downslanted palpebral fissures0PLK4 CL E G H10733808Baker Vinters syndromeORPHA169411397605031
HP:0000494HP:0000494Downslanted palpebral fissures0POLR1A CL E G H25885616462Acrofacial dysostosis, Cincinnati type616462C4225317OMIM159317264616404
HP:0000494HP:0000494Downslanted palpebral fissures0POLR1C CL E G H9533861ORPHA1219220194610060
HP:0000494HP:0000494Downslanted palpebral fissures0POLR1C CL E G H9533248390Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive248390C1855433OMIM1219220194610060
HP:0000494HP:0000494Downslanted palpebral fissures0POLR1D CL E G H51082861ORPHA1264820422613715
HP:0000494HP:0000494Downslanted palpebral fissures0POLR1D CL E G H51082613717Treacher Collins syndrome 2613717C3150983OMIM1264820422613715
HP:0000494HP:0000494Downslanted palpebral fissures0PPP1CB CL E G H5500617506Noonan syndrome-like disorder with loose anagen hair 2617506C4479577OMIM112409282600590
HP:0000494HP:0000494Downslanted palpebral fissures0PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM17519302605983
HP:0000494HP:0000494Downslanted palpebral fissures0PPP2R5D CL E G H5528616355Mental retardation, autosomal dominant 35616355C4225354OMIM111419312601646
HP:0000494HP:0000494Downslanted palpebral fissures0PRRX1 CL E G H5396202650Dysgnathia complex202650C1876185OMIM112349142167420
HP:0000494HP:0000494Downslanted palpebral fissures0PSMD12 CL E G H5718529962ORPHA110359557604450
HP:0000494HP:0000494Downslanted palpebral fissures0PTCH1 CL E G H572777301ORPHA152920319585601309
HP:0000494HP:0000494Downslanted palpebral fissures0PTPN11 CL E G H5781648ORPHA11434759644176876
HP:0000494HP:0000494Downslanted palpebral fissures0PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM11434759644176876
HP:0000494HP:0000494Downslanted palpebral fissures0PYCR1 CL E G H5831612940Autosomal recessive cutis laxa type 2B612940C2751987OMIM1411449721179035
HP:0000494HP:0000494Downslanted palpebral fissures0PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM1136330262616406
HP:0000494HP:0000494Downslanted palpebral fissures0RAB3GAP2 CL E G H25782212720Martsolf syndrome212720C0796037OMIM11629417168609275
HP:0000494HP:0000494Downslanted palpebral fissures0RAF1 CL E G H5894648ORPHA1545089829164760
HP:0000494HP:0000494Downslanted palpebral fissures0RAF1 CL E G H5894611554LEOPARD syndrome 2611554C1969056OMIM1545089829164760
HP:0000494HP:0000494Downslanted palpebral fissures0RAF1 CL E G H5894611553Noonan syndrome 5611553C1969057OMIM1545089829164760
HP:0000494HP:0000494Downslanted palpebral fissures0RAI1 CL E G H107431713ORPHA11164049834607642
HP:0000494HP:0000494Downslanted palpebral fissures0RASA2 CL E G H5922648ORPHA13739872601589
HP:0000494HP:0000494Downslanted palpebral fissures0RBBP8 CL E G H5932808Baker Vinters syndromeORPHA161089891604124
HP:0000494HP:0000494Downslanted palpebral fissures0RECQL4 CL E G H9401218600Baller-Gerold syndrome218600C0265308OMIM112220289949603780
HP:0000494HP:0000494Downslanted palpebral fissures0RERE CL E G H473616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart616975C4310772OMIM1251619965605226
HP:0000494HP:0000494Downslanted palpebral fissures0RET CL E G H5979209880Congenital central hypoventilation209880C1275808OMIM143214969967164761
HP:0000494HP:0000494Downslanted palpebral fissures0RIN2 CL E G H54453217335ORPHA1415518750610222
HP:0000494HP:0000494Downslanted palpebral fissures0RIN2 CL E G H54453613075Macrocephaly, alopecia, cutis laxa, and scoliosis613075C2751321OMIM1415518750610222
HP:0000494HP:0000494Downslanted palpebral fissures0RIT1 CL E G H6016648ORPHA12610610023609591
HP:0000494HP:0000494Downslanted palpebral fissures0RIT1 CL E G H6016615355Noonan syndrome 8615355C3809233OMIM12610610023609591
HP:0000494HP:0000494Downslanted palpebral fissures0RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM1516113429300379
HP:0000494HP:0000494Downslanted palpebral fissures0RNF135 CL E G H84282137634ORPHA188921158611358
HP:0000494HP:0000494Downslanted palpebral fissures0RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA1245634016601428
HP:0000494HP:0000494Downslanted palpebral fissures0RNU4ATAC CL E G H100151683616651Roifman syndrome616651C1846059OMIM1245634016601428
HP:0000494HP:0000494Downslanted palpebral fissures0ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM14025810257602337
HP:0000494HP:0000494Downslanted palpebral fissures0RPS19 CL E G H6223105650Diamond-Blackfan anemia 1105650C2676137OMIM11759610402603474
HP:0000494HP:0000494Downslanted palpebral fissures0RPS28 CL E G H6234606164Diamond-Blackfan anemia 15 with mandibulofacial dysostosis606164C1853576OMIM111010418603685
HP:0000494HP:0000494Downslanted palpebral fissures0RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM117130910432300075
HP:0000494HP:0000494Downslanted palpebral fissures0RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA117130910432300075
HP:0000494HP:0000494Downslanted palpebral fissures0RRAS CL E G H6237648ORPHA127510447165090
HP:0000494HP:0000494Downslanted palpebral fissures0SATB2 CL E G H23314612313Chromosome 2q32-q33 deletion syndrome612313C2676739OMIM110627421637608148
HP:0000494HP:0000494Downslanted palpebral fissures0SC5D CL E G H630946059ORPHA1618210547602286
HP:0000494HP:0000494Downslanted palpebral fissures0SEC24D CL E G H9871616294Cole-Carpenter syndrome 2616294C4225382OMIM1127810706607186
HP:0000494HP:0000494Downslanted palpebral fissures0SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM1416010727608166
HP:0000494HP:0000494Downslanted palpebral fissures0SEMA5A CL E G H9037281Ramer Ladda syndromeORPHA1817410736609297
HP:0000494HP:0000494Downslanted palpebral fissures0SETBP1 CL E G H26040616078Mental retardation, autosomal dominant 29616078C4015141OMIM14721215573611060
HP:0000494HP:0000494Downslanted palpebral fissures0SETD2 CL E G H29072821ORPHA11943318420612778
HP:0000494HP:0000494Downslanted palpebral fissures0SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM11943318420612778
HP:0000494HP:0000494Downslanted palpebral fissures0SF3B4 CL E G H10262245ORPHA1385810771605593
HP:0000494HP:0000494Downslanted palpebral fissures0SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM1385810771605593
HP:0000494HP:0000494Downslanted palpebral fissures0SH3PXD2B CL E G H285590137834ORPHA12026629242613293
HP:0000494HP:0000494Downslanted palpebral fissures0SH3PXD2B CL E G H285590249420Frank Ter Haar syndrome249420C1855305OMIM12026629242613293
HP:0000494HP:0000494Downslanted palpebral fissures0SIN3A CL E G H2594294065ORPHA11611619353607776
HP:0000494HP:0000494Downslanted palpebral fissures0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11611619353607776
HP:0000494HP:0000494Downslanted palpebral fissures0SKI CL E G H64972462ORPHA12450210896164780
HP:0000494HP:0000494Downslanted palpebral fissures0SLC2A10 CL E G H81031208050Arterial tortuosity syndrome208050C1859726OMIM13533913444606145
HP:0000494HP:0000494Downslanted palpebral fissures0SLC39A13 CL E G H91252157965ORPHA1910420859608735
HP:0000494HP:0000494Downslanted palpebral fissures0SLC39A13 CL E G H91252612350Spondylocheirodysplasia, Ehlers-Danlos syndrome-like612350C2676510OMIM1910420859608735
HP:0000494HP:0000494Downslanted palpebral fissures0SLC45A1 CL E G H50651617532INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES617532C4479636OMIM135717939605763
HP:0000494HP:0000494Downslanted palpebral fissures0SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM110048411111300040
HP:0000494HP:0000494Downslanted palpebral fissures0SMOC1 CL E G H64093206920Anophthalmos with limb anomalies206920C0599973OMIM1155420318608488
HP:0000494HP:0000494Downslanted palpebral fissures0SNAP29 CL E G H934266631ORPHA11352711133604202
HP:0000494HP:0000494Downslanted palpebral fissures0SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM11352711133604202
HP:0000494HP:0000494Downslanted palpebral fissures0SON CL E G H6651617140ZTTK syndrome617140C4310696OMIM12822411183182465
HP:0000494HP:0000494Downslanted palpebral fissures0SOS1 CL E G H6654648ORPHA17566511187182530
HP:0000494HP:0000494Downslanted palpebral fissures0SOS1 CL E G H6654610733Noonan syndrome 4610733C1853120OMIM17566511187182530
HP:0000494HP:0000494Downslanted palpebral fissures0SOS2 CL E G H6655648ORPHA1632411188601247
HP:0000494HP:0000494Downslanted palpebral fissures0SOS2 CL E G H6655616559Noonan syndrome 9616559C4225282OMIM1632411188601247
HP:0000494HP:0000494Downslanted palpebral fissures0SOX5 CL E G H6660616803Lamb-shaffer syndrome616803C4225202OMIM12914611201604975
HP:0000494HP:0000494Downslanted palpebral fissures0SPECC1L CL E G H233841519ORPHA1815629022614140
HP:0000494HP:0000494Downslanted palpebral fissures0SPECC1L CL E G H23384145420Brachycephalofrontonasal dysplasia145420C0796179OMIM1815629022614140
HP:0000494HP:0000494Downslanted palpebral fissures0SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM1815629022614140
HP:0000494HP:0000494Downslanted palpebral fissures0SPRED1 CL E G H161742611431Legius syndrome611431C1969623OMIM17236220249609291
HP:0000494HP:0000494Downslanted palpebral fissures0STAC3 CL E G H246329255995Native American myopathy255995C1850625OMIM149028423615521
HP:0000494HP:0000494Downslanted palpebral fissures0SZT2 CL E G H23334615476Early infantile epileptic encephalopathy 18615476C3809624OMIM12595929040615463
HP:0000494HP:0000494Downslanted palpebral fissures0TBR1 CL E G H107161617ORPHA1187811590604616
HP:0000494HP:0000494Downslanted palpebral fissures0TBX1 CL E G H68991727ORPHA18255311592602054
HP:0000494HP:0000494Downslanted palpebral fissures0TCOF1 CL E G H6949861ORPHA133325011654606847
HP:0000494HP:0000494Downslanted palpebral fissures0TFAP2B CL E G H702146627ORPHA1155711743601601
HP:0000494HP:0000494Downslanted palpebral fissures0TMCO1 CL E G H544991394ORPHA153318188614123
HP:0000494HP:0000494Downslanted palpebral fissures0TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM11122114432614423
HP:0000494HP:0000494Downslanted palpebral fissures0TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM1118711946191043
HP:0000494HP:0000494Downslanted palpebral fissures0TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM149111950600692
HP:0000494HP:0000494Downslanted palpebral fissures0TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM14019912011190990
HP:0000494HP:0000494Downslanted palpebral fissures0TRAIP CL E G H10293808Baker Vinters syndromeORPHA122730764605958
HP:0000494HP:0000494Downslanted palpebral fissures0TRIO CL E G H7204617061Mental retardation, autosomal dominant 44617061C4310740OMIM13230812303601893
HP:0000494HP:0000494Downslanted palpebral fissures0TSR2 CL E G H90121300946Diamond-Blackfan anemia 14 with mandibulofacial dysostosis300946C4225422OMIM1214925455300945
HP:0000494HP:0000494Downslanted palpebral fissures0TTC37 CL E G H9652222470Trichohepatoenteric syndrome 1222470CN034858OMIM16412823639614589
HP:0000494HP:0000494Downslanted palpebral fissures0UMPS CL E G H737230ORPHA11322712563613891
HP:0000494HP:0000494Downslanted palpebral fissures0VPS13B CL E G H157680193ORPHA121316062183607817
HP:0000494HP:0000494Downslanted palpebral fissures0VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM121316062183607817
HP:0000494HP:0000494Downslanted palpebral fissures0WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM12026828984610657
HP:0000494HP:0000494Downslanted palpebral fissures0WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA12026828984610657
HP:0000494HP:0000494Downslanted palpebral fissures0WNT5A CL E G H7474180700Robinow syndrome180700C0265205OMIM1115812784164975
HP:0000494HP:0000494Downslanted palpebral fissures0YWHAE CL E G H7531217385ORPHA14414612851605066
HP:0000494HP:0000494Downslanted palpebral fissures0YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM1235712856600013
HP:0000494HP:0000494Downslanted palpebral fissures0ZBTB20 CL E G H261373042ORPHA12510913503606025
HP:0000494HP:0000494Downslanted palpebral fissures0ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM12510913503606025
HP:0000494HP:0000494Downslanted palpebral fissures0ZEB2 CL E G H9839235730Mowat-Wilson syndrome235730C1856113OMIM129861314881605802
HP:0000494HP:0000494Downslanted palpebral fissures0ZMPSTE24 CL E G H102691662ORPHA13413612877606480
HP:0000494HP:0000494Downslanted palpebral fissures0ZNF148 CL E G H7707617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies617260C4310644OMIM144212933601897
HP:0000494HP:0000494Downslanted palpebral fissures0ZSWIM6 CL E G H57688603671Acromelic frontonasal dysostosis603671C1863616OMIM126229316615951
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000494HP:0000494Downslanted palpebral fissures0AARS CL E G H16442835ORPHA02120601065
HP:0000494HP:0000494Downslanted palpebral fissures0ABCA5 CL E G H23461135400Gingival fibromatosis with hypertrichosis135400C1851120OMIM054935612503
HP:0000494HP:0000494Downslanted palpebral fissures0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM06817915766611386
HP:0000494HP:0000494Downslanted palpebral fissures0AKT1 CL E G H207744Aortic valves stenosis of the childORPHA012269391164730
HP:0000494HP:0000494Downslanted palpebral fissures0AP3B2 CL E G H8120442835ORPHA01290567602166
HP:0000494HP:0000494Downslanted palpebral fissures0ARL6 CL E G H84100110ORPHA0217913210608845
HP:0000494HP:0000494Downslanted palpebral fissures0ARV1 CL E G H64801442835ORPHA035429561611647
HP:0000494HP:0000494Downslanted palpebral fissures0ARVCF CL E G H421567ORPHA02477728602269
HP:0000494HP:0000494Downslanted palpebral fissures0ATP6V1A CL E G H523442835ORPHA0947851607027
HP:0000494HP:0000494Downslanted palpebral fissures0ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA0493854606939
HP:0000494HP:0000494Downslanted palpebral fissures0ATP7A CL E G H538198ORPHA0357607869300011
HP:0000494HP:0000494Downslanted palpebral fissures0BBIP1 CL E G H92482110ORPHA014328093613605
HP:0000494HP:0000494Downslanted palpebral fissures0BBS1 CL E G H582110ORPHA0105309966209901
HP:0000494HP:0000494Downslanted palpebral fissures0BBS10 CL E G H79738110ORPHA010931726291610148
HP:0000494HP:0000494Downslanted palpebral fissures0BBS12 CL E G H166379110ORPHA06123726648610683
HP:0000494HP:0000494Downslanted palpebral fissures0BBS2 CL E G H583110ORPHA096277967606151
HP:0000494HP:0000494Downslanted palpebral fissures0BBS4 CL E G H585110ORPHA054217969600374
HP:0000494HP:0000494Downslanted palpebral fissures0BBS5 CL E G H129880110ORPHA03186970603650
HP:0000494HP:0000494Downslanted palpebral fissures0BBS7 CL E G H55212110ORPHA04417518758607590
HP:0000494HP:0000494Downslanted palpebral fissures0BBS9 CL E G H27241110ORPHA05329230000607968
HP:0000494HP:0000494Downslanted palpebral fissures0BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA020851148602452
HP:0000494HP:0000494Downslanted palpebral fissures0BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA0293231149602860
HP:0000494HP:0000494Downslanted palpebral fissures0BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA06491151603719
HP:0000494HP:0000494Downslanted palpebral fissures0C8orf37 CL E G H157657110ORPHA01711927232614477
HP:0000494HP:0000494Downslanted palpebral fissures0CACNA1A CL E G H773442835ORPHA025113931388601011
HP:0000494HP:0000494Downslanted palpebral fissures0CCDC115 CL E G H84317616828CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo616828C4225191OMIM054828178613734
HP:0000494HP:0000494Downslanted palpebral fissures0CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM07691770603464
HP:0000494HP:0000494Downslanted palpebral fissures0CEP152 CL E G H22995613823Seckel syndrome 5613823C3151187OMIM02025229298613529
HP:0000494HP:0000494Downslanted palpebral fissures0CEP290 CL E G H80184110ORPHA031088429021610142
HP:0000494HP:0000494Downslanted palpebral fissures0CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA0515530794607951
HP:0000494HP:0000494Downslanted palpebral fissures0CEP57 CL E G H9702614114Mosaic variegated aneuploidy syndrome 2614114C3279843OMIM0515530794607951
HP:0000494HP:0000494Downslanted palpebral fissures0CHRNA7 CL E G H1139199318ORPHA0573031960118511
HP:0000494HP:0000494Downslanted palpebral fissures0CLCN4 CL E G H1183300114Mental retardation 49, X-linked300114C3887959OMIM0183342022302910
HP:0000494HP:0000494Downslanted palpebral fissures0CLTC CL E G H1213442835ORPHA014622092118955
HP:0000494HP:0000494Downslanted palpebral fissures0CNKSR2 CL E G H22866442835ORPHA0621419701300724
HP:0000494HP:0000494Downslanted palpebral fissures0COMT CL E G H1312567ORPHA0155552228116790
HP:0000494HP:0000494Downslanted palpebral fissures0CYFIP2 CL E G H26999442835ORPHA034213760606323
HP:0000494HP:0000494Downslanted palpebral fissures0DHCR24 CL E G H171835107ORPHA0101372859606418
HP:0000494HP:0000494Downslanted palpebral fissures0DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM0101372859606418
HP:0000494HP:0000494Downslanted palpebral fissures0DHCR7 CL E G H1717818ORPHA02183762860602858
HP:0000494HP:0000494Downslanted palpebral fissures0DHDDS CL E G H79947442835ORPHA0812220603608172
HP:0000494HP:0000494Downslanted palpebral fissures0DNM1 CL E G H1759442835ORPHA0313242972602377
HP:0000494HP:0000494Downslanted palpebral fissures0DVL1 CL E G H18553107ORPHA0192443084601365
HP:0000494HP:0000494Downslanted palpebral fissures0DVL3 CL E G H18573107ORPHA015773087601368
HP:0000494HP:0000494Downslanted palpebral fissures0EED CL E G H87263447ORPHA09493188605984
HP:0000494HP:0000494Downslanted palpebral fissures0EEF1A2 CL E G H1917442835ORPHA0122603192602959
HP:0000494HP:0000494Downslanted palpebral fissures0EZH2 CL E G H21463447ORPHA0422353527601573
HP:0000494HP:0000494Downslanted palpebral fissures0FGF12 CL E G H2257442835ORPHA010743668601513
HP:0000494HP:0000494Downslanted palpebral fissures0FGFR2 CL E G H226383ORPHA01593363689176943
HP:0000494HP:0000494Downslanted palpebral fissures0FZD2 CL E G H25353107ORPHA07304040600667
HP:0000494HP:0000494Downslanted palpebral fissures0GABRB2 CL E G H2561442835ORPHA0162124082600232
HP:0000494HP:0000494Downslanted palpebral fissures0GATA4 CL E G H2626251071ORPHA01713414173600576
HP:0000494HP:0000494Downslanted palpebral fissures0GLI3 CL E G H2737175700Greig cephalopolysyndactyly syndrome175700C0265306OMIM02445374319165240
HP:0000494HP:0000494Downslanted palpebral fissures0GMNN CL E G H51053616835Meier-gorlin syndrome 6616835C4225188OMIM032117493602842
HP:0000494HP:0000494Downslanted palpebral fissures0GP1BB CL E G H2812567ORPHA0534044440138720
HP:0000494HP:0000494Downslanted palpebral fissures0GRIN2D CL E G H2906442835ORPHA02774588602717
HP:0000494HP:0000494Downslanted palpebral fissures0HCN1 CL E G H348980442835ORPHA0402854845602780
HP:0000494HP:0000494Downslanted palpebral fissures0HIRA CL E G H7290567ORPHA053994916600237
HP:0000494HP:0000494Downslanted palpebral fissures0HUWE1 CL E G H1007585328ORPHA05442930892300697
HP:0000494HP:0000494Downslanted palpebral fissures0IFT172 CL E G H26160110ORPHA02726930391607386
HP:0000494HP:0000494Downslanted palpebral fissures0IFT27 CL E G H11020110ORPHA045218626615870
HP:0000494HP:0000494Downslanted palpebral fissures0JMJD1C CL E G H221037567ORPHA02950912313604503
HP:0000494HP:0000494Downslanted palpebral fissures0KCNA2 CL E G H3737442835ORPHA0211296220176262
HP:0000494HP:0000494Downslanted palpebral fissures0KCNB1 CL E G H3745442835ORPHA0302786231600397
HP:0000494HP:0000494Downslanted palpebral fissures0KCNH1 CL E G H37563473MeningoencephaloceleORPHA013916250603305
HP:0000494HP:0000494Downslanted palpebral fissures0KDM1A CL E G H23028616728Cleft palate, psychomotor retardation, and distinctive facial features616728C4225229OMIM0173729079609132
HP:0000494HP:0000494Downslanted palpebral fissures0LRP2 CL E G H4036222448Donnai Barrow syndrome222448C1857277OMIM0466006694600073
HP:0000494HP:0000494Downslanted palpebral fissures0LZTFL1 CL E G H54585110ORPHA03406741606568
HP:0000494HP:0000494Downslanted palpebral fissures0MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM0221726776177075
HP:0000494HP:0000494Downslanted palpebral fissures0MKKS CL E G H8195110ORPHA0601947108604896
HP:0000494HP:0000494Downslanted palpebral fissures0MKS1 CL E G H54903110ORPHA0523347121609883
HP:0000494HP:0000494Downslanted palpebral fissures0NAA10 CL E G H8260276432ORPHA01029618704300013
HP:0000494HP:0000494Downslanted palpebral fissures0NECAP1 CL E G H25977442835ORPHA018224539611623
HP:0000494HP:0000494Downslanted palpebral fissures0NF1 CL E G H4763601321Neurofibromatosis-Noonan syndrome601321C2931482OMIM0301164917765613113
HP:0000494HP:0000494Downslanted palpebral fissures0NPHP1 CL E G H4867110ORPHA0794037905607100
HP:0000494HP:0000494Downslanted palpebral fissures0NSD1 CL E G H643243447ORPHA052589614234606681
HP:0000494HP:0000494Downslanted palpebral fissures0NTRK2 CL E G H4915442835ORPHA013708032600456
HP:0000494HP:0000494Downslanted palpebral fissures0NUS1 CL E G H116150442835ORPHA0225721042610463
HP:0000494HP:0000494Downslanted palpebral fissures0NXN CL E G H643591507Congenital unilateral pulmonary hypoplasiaORPHA0513018008612895
HP:0000494HP:0000494Downslanted palpebral fissures0P4HB CL E G H50342050Ectodermal dysplasia Margarita typeORPHA011478548176790
HP:0000494HP:0000494Downslanted palpebral fissures0PCNT CL E G H51162637HemimegalencephalyORPHA08888516068605925
HP:0000494HP:0000494Downslanted palpebral fissures0PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM053414951613257
HP:0000494HP:0000494Downslanted palpebral fissures0PPP3CA CL E G H5530442835ORPHA011399314114105
HP:0000494HP:0000494Downslanted palpebral fissures0PTEN CL E G H57282969ORPHA065820199588601728
HP:0000494HP:0000494Downslanted palpebral fissures0PTEN CL E G H5728744Aortic valves stenosis of the childORPHA065820199588601728
HP:0000494HP:0000494Downslanted palpebral fissures0ROR2 CL E G H49201507Congenital unilateral pulmonary hypoplasiaORPHA04025810257602337
HP:0000494HP:0000494Downslanted palpebral fissures0RPS6KA3 CL E G H6197276630ORPHA017130910432300075
HP:0000494HP:0000494Downslanted palpebral fissures0RREB1 CL E G H6239567ORPHA01217110449602209
HP:0000494HP:0000494Downslanted palpebral fissures0SATB2 CL E G H23314251019ORPHA010627421637608148
HP:0000494HP:0000494Downslanted palpebral fissures0SC5D CL E G H6309607330Lathosterolosis607330C1846421OMIM0618210547602286
HP:0000494HP:0000494Downslanted palpebral fissures0SCN3A CL E G H6328442835ORPHA01942210590182391
HP:0000494HP:0000494Downslanted palpebral fissures0SCN8A CL E G H6334442835ORPHA010375010596600702
HP:0000494HP:0000494Downslanted palpebral fissures0SDCCAG8 CL E G H10806110ORPHA01824910671613524
HP:0000494HP:0000494Downslanted palpebral fissures0SEC24C CL E G H9632567ORPHA02410705607185
HP:0000494HP:0000494Downslanted palpebral fissures0SEC24D CL E G H98712050Ectodermal dysplasia Margarita typeORPHA0127810706607186
HP:0000494HP:0000494Downslanted palpebral fissures0SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM02450210896164780
HP:0000494HP:0000494Downslanted palpebral fissures0SLC13A5 CL E G H284111442835ORPHA02131223089608305
HP:0000494HP:0000494Downslanted palpebral fissures0SLC1A2 CL E G H6506442835ORPHA084910940600300
HP:0000494HP:0000494Downslanted palpebral fissures0SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM023520662608744
HP:0000494HP:0000494Downslanted palpebral fissures0SMARCA2 CL E G H65953051ORPHA07844511098600014
HP:0000494HP:0000494Downslanted palpebral fissures0SMARCA2 CL E G H6595601358Nicolaides-Baraitser syndrome601358C1303073OMIM07844511098600014
HP:0000494HP:0000494Downslanted palpebral fissures0SON CL E G H6651500150ORPHA02822411183182465
HP:0000494HP:0000494Downslanted palpebral fissures0SPART CL E G H23111101000ORPHA0718318514607111
HP:0000494HP:0000494Downslanted palpebral fissures0STXBP1 CL E G H6812442835ORPHA019553811444602926
HP:0000494HP:0000494Downslanted palpebral fissures0SUZ12 CL E G H235123447ORPHA037217101606245
HP:0000494HP:0000494Downslanted palpebral fissures0SYNGAP1 CL E G H8831442835ORPHA08651711497603384
HP:0000494HP:0000494Downslanted palpebral fissures0SYNJ1 CL E G H8867442835ORPHA02745211503604297
HP:0000494HP:0000494Downslanted palpebral fissures0SZT2 CL E G H23334442835ORPHA02595929040615463
HP:0000494HP:0000494Downslanted palpebral fissures0TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM01724011535313650
HP:0000494HP:0000494Downslanted palpebral fissures0TBX1 CL E G H6899567ORPHA08255311592602054
HP:0000494HP:0000494Downslanted palpebral fissures0TCOF1 CL E G H6949154500Treacher Collins syndrome 1154500CN119605OMIM033325011654606847
HP:0000494HP:0000494Downslanted palpebral fissures0TGFB2 CL E G H7042614816Loeys-Dietz syndrome 4614816C3553762OMIM04334111768190220
HP:0000494HP:0000494Downslanted palpebral fissures0TGFB3 CL E G H7043615582Loeys-Dietz syndrome 5615582C3810012OMIM03425311769190230
HP:0000494HP:0000494Downslanted palpebral fissures0TRAK1 CL E G H22906442835ORPHA062529947608112
HP:0000494HP:0000494Downslanted palpebral fissures0TRIM32 CL E G H22954110ORPHA01632716380602290
HP:0000494HP:0000494Downslanted palpebral fissures0TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA0216212307604507
HP:0000494HP:0000494Downslanted palpebral fissures0TTC8 CL E G H123016110ORPHA01612820087608132
HP:0000494HP:0000494Downslanted palpebral fissures0TUBB3 CL E G H10381300570ORPHA02615520772602661
HP:0000494HP:0000494Downslanted palpebral fissures0TWIST2 CL E G H1175811807ORPHA098820670607556
HP:0000494HP:0000494Downslanted palpebral fissures0UBA5 CL E G H79876442835ORPHA0184823230610552
HP:0000494HP:0000494Downslanted palpebral fissures0UBE3A CL E G H7337238446ORPHA020275912496601623
HP:0000494HP:0000494Downslanted palpebral fissures0UFD1 CL E G H7353567ORPHA0436812520601754
HP:0000494HP:0000494Downslanted palpebral fissures0UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM02620426582612636
HP:0000494HP:0000494Downslanted palpebral fissures0WDPCP CL E G H51057110ORPHA0817628027613580
HP:0000494HP:0000494Downslanted palpebral fissures0WNT5A CL E G H74743107ORPHA0115812784164975
HP:0000494HP:0000494Downslanted palpebral fissures0WWOX CL E G H51741442835ORPHA05059612799605131
HP:0000494HP:0000494Downslanted palpebral fissures0YWHAG CL E G H7532442835ORPHA055112852605356


Genes (340) :A2ML1 AARS ABAT ABCA5 ACSL4 ACTB ACTG1 ADAMTS2 ADNP AHDC1 AKT1 ALDH6A1 AMMECR1 AMPD2 AP3B2 AP4E1 APC APC2 ARHGEF2 ARID1B ARID2 ARL6 ARV1 ARVCF ASCL1 ASPH ASXL3 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATR ATRIP AUTS2 B3GAT3 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL11A BGN BMP2 BPTF BRAF BRPF1 BUB1 BUB1B BUB3 C12ORF57 C12orf57 C8ORF37 CACNA1A CAMK2A CAMTA1 CBL CCDC115 CCDC22 CDC42 CDH11 CDK10 CENPE CENPJ CEP152 CEP290 CEP57 CHD1 CHD7 CHRNA7 CHRNG CHST14 CHST3 CKAP2L CLCN4 CLTC CNKSR2 COG1 COL11A1 COL11A2 COLEC10 COLEC11 COMT CREBBP CTNND2 CUL4B CWC27 CYFIP2 DHCR24 DHCR7 DHDDS DHODH DNAJC21 DNM1 DOCK3 DPF2 DPH1 DPM1 DSE DVL1 DVL3 DYNC1H1 DYNC2LI1 EBF3 EBP EDN3 EED EEF1A2 EFEMP2 EFNB1 EFTUD2 EP300 ESCO2 EZH2 FAM20C FBN1 FBXL4 FBXO11 FGD1 FGF10 FGF12 FGF3 FGFR1 FGFR2 FGFR3 FHL1 FIBP FLCN FLI1 FLNA FOXG1 FOXP1 FZD2 GABRB2 GATA4 GDNF GJA1 GLI3 GMNN GP1BB GPC3 GPC4 GRIN2D GSC HBA1 HBA2 HCN1 HERC1 HIRA HNRNPK HRAS HUWE1 IFT172 IFT27 IGBP1 JMJD1C KAT6B KCNA2 KCNB1 KCNE5 KCNH1 KDM1A KDM5B KIF11 KIF1BP KIF7 KMT2A KPTN KRAS LETM1 LMNA LRP2 LRP4 LZTFL1 LZTR1 MAF MAN1B1 MAP2K1 MAP2K2 MAP3K7 MAPRE2 MASP1 MED12 MED25 MGAT2 MKKS MKS1 MPDZ MTOR MVK MYH3 MYMK NAA10 NALCN NECAP1 NECTIN1 NELFA NF1 NFIB NFIX NOTCH2 NOTCH3 NPHP1 NRAS NSD1 NSD2 NTRK2 NUS1 NXN OFD1 ORC6 OSGEP OTUD6B P4HB PACS1 PACS2 PAFAH1B1 PAX3 PCNT PDGFRB PEX3 PHOX2B PIK3CA PLK4 POLR1A POLR1C POLR1D PPP1CB PPP1R15B PPP2R1A PPP2R5D PPP3CA PRRX1 PSMD12 PTCH1 PTEN PTPN11 PYCR1 PYCR2 RAB3GAP2 RAF1 RAI1 RASA2 RBBP8 RECQL4 RERE RET RIN2 RIT1 RLIM RNF135 RNU4ATAC ROR2 RPS19 RPS28 RPS6KA3 RRAS RREB1 SATB2 SC5D SCN3A SCN8A SDCCAG8 SEC24C SEC24D SEMA3E SEMA5A SETBP1 SETD2 SF3B4 SH3PXD2B SIN3A SKI SLC13A5 SLC1A2 SLC25A24 SLC2A10 SLC39A13 SLC45A1 SMARCA2 SMC1A SMOC1 SNAP29 SON SOS1 SOS2 SOX5 SPART SPECC1L SPRED1 STAC3 STXBP1 SUZ12 SYNGAP1 SYNJ1 SZT2 TAF1 TBR1 TBX1 TCOF1 TFAP2B TGFB2 TGFB3 TMCO1 TMEM237 TNNI2 TNNT3 TPM2 TRAIP TRAK1 TRIM32 TRIO TRIP13 TSR2 TTC37 TTC8 TUBB3 TWIST2 UBA5 UBE3A UFD1 UMPS UNC80 VPS13B WASHC5 WDPCP WNT5A WWOX YWHAE YWHAG YY1 ZBTB20 ZEB2 ZMPSTE24 ZNF148 ZSWIM6

Diseases (309) :648 442835 613163 135400 86818 2995 225410 615873 615829 744 176920 614105 300990 615809 613744 261584 3258 821 617523 251056 135900 617808 110 567 209880 601552 615485 2834 357074 219200 278250 617403 3473 198 808 210600 615834 245600 617101 300989 261295 617877 529962 115150 1340 163950 617333 1052 218340 617798 614756 613563 616828 7 616737 1299 211380 617694 613823 614114 529965 617682 214800 199318 2990 265000 601776 3255 300114 611209 2021 293843 265050 180849 281 85293 250410 35107 602398 818 263750 246 617052 618292 618027 616901 608799 615539 3107 180700 614563 617088 617330 302960 3447 617561 616393 614437 1520 304110 610536 613684 268300 277590 259775 2462 284979 616914 154700 615471 618089 915 305400 149730 90024 2117 166250 101600 87 1555 83 101200 123790 602849 300280 617107 610883 2308 90652 90650 1826 305620 300048 311300 304120 261144 613670 251071 257850 672 175700 616835 373 312870 602471 98791 617011 616580 218040 85328 52055 300472 606170 616728 618109 152950 609460 200990 605130 615637 609942 280 1662 222448 2143 212780 616564 601088 614202 638 617137 616734 305450 616449 212066 615219 616638 29 610377 601680 178110 2053 1358 254940 276432 300855 3253 601321 618286 614753 955 102500 2789 130720 613224 117550 1507 2750 300804 311200 613803 617729 505237 617452 2050 615009 618067 217385 1529 896 2637 616592 614882 602501 616462 861 248390 613717 617506 616817 616362 616355 202650 77301 2969 612940 616420 212720 611554 611553 1713 218600 616975 217335 613075 615355 300978 137634 2636 616651 268310 105650 606164 276630 303600 192 251019 612313 46059 607330 616294 616078 616831 245 154400 137834 249420 94065 613406 182212 612289 208050 157965 612350 617532 3051 601358 300590 206920 66631 609528 500150 617140 610733 616559 616803 101000 1519 145420 145410 611431 255995 615476 300966 1617 1727 154500 46627 614816 615582 1394 614424 617061 300946 222470 300570 1807 238446 30 616801 193 216550 220210 617557 3042 259050 235730 617260 603671
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.