Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the orbital region (HP:0000315)help
Grandparent Node:
expand
obsolete Abnormal globe morphology (HP:0012374)help
Parent Node:
expand
Abnormality of globe location (HP:0100886)help
..Starting node
..expand
Hypertelorism (HP:0000316)help
Term ID: 316
Name: Hypertelorism
Synonym: Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance
Definition: Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Comments:
Reference: HP:0000316
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCyclopia (HP:0009914) help
..expandDeeply set eye (HP:0000490) help
..expandHypotelorism (HP:0000601) help
..expandProptosis (HP:0000520) help
..expandVertical orbital dystopia (HP:0030867) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000316HP:0000316Hypertelorism0A2ML1 CL E G H144568648ORPHA12149223336610627
HP:0000316HP:0000316Hypertelorism0ABCC9 CL E G H10060965Brachydactyly dwarfism mental retardationORPHA14965860601439
HP:0000316HP:0000316Hypertelorism0ACOX1 CL E G H512971ORPHA126257119609751
HP:0000316HP:0000316Hypertelorism0ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM126257119609751
HP:0000316HP:0000316Hypertelorism0ACTB CL E G H6079107ORPHA165224132102630
HP:0000316HP:0000316Hypertelorism0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM165224132102630
HP:0000316HP:0000316Hypertelorism0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA165224132102630
HP:0000316HP:0000316Hypertelorism0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA148261144102560
HP:0000316HP:0000316Hypertelorism0ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM11557177104620
HP:0000316HP:0000316Hypertelorism0ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA1438219605011
HP:0000316HP:0000316Hypertelorism0ADAMTS3 CL E G H9508618154HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3618154OMIM1438219605011
HP:0000316HP:0000316Hypertelorism0ADGRG6 CL E G H57211616503Lethal congenital contracture syndrome 9616503C4225303OMIM165213841612243
HP:0000316HP:0000316Hypertelorism0ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM11564257102750
HP:0000316HP:0000316Hypertelorism0AFF4 CL E G H27125616368Chops syndrome616368C4085597OMIM136617869604417
HP:0000316HP:0000316Hypertelorism0AGA CL E G H17593ORPHA138239318613228
HP:0000316HP:0000316Hypertelorism0AHDC1 CL E G H27245615829Xia-Gibbs syndrome615829C4014419OMIM13418425230615790
HP:0000316HP:0000316Hypertelorism0AKT1 CL E G H207744Aortic valves stenosis of the childORPHA112269391164730
HP:0000316HP:0000316Hypertelorism0AKT3 CL E G H1000083473ORPHA128175393611223
HP:0000316HP:0000316Hypertelorism0ALDH18A1 CL E G H583290348ORPHA1332529722138250
HP:0000316HP:0000316Hypertelorism0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM1332529722138250
HP:0000316HP:0000316Hypertelorism0ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM161307179603178
HP:0000316HP:0000316Hypertelorism0ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM14416818294605907
HP:0000316HP:0000316Hypertelorism0ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM11446330881300776
HP:0000316HP:0000316Hypertelorism0ALG8 CL E G H79053608104Congenital disorder of glycosylation type 1H608104C2931002OMIM1179623161608103
HP:0000316HP:0000316Hypertelorism0ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM1416015672606941
HP:0000316HP:0000316Hypertelorism0ALX1 CL E G H8092306542ORPHA15291494601527
HP:0000316HP:0000316Hypertelorism0ALX1 CL E G H8092613456Frontonasal dysplasia 3613456C3150706OMIM15291494601527
HP:0000316HP:0000316Hypertelorism0ALX3 CL E G H257391474ORPHA1835449606014
HP:0000316HP:0000316Hypertelorism0ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM1835449606014
HP:0000316HP:0000316Hypertelorism0ALX4 CL E G H60529228390ORPHA127221450605420
HP:0000316HP:0000316Hypertelorism0ALX4 CL E G H60529613451Frontonasal dysplasia 2613451C3150703OMIM127221450605420
HP:0000316HP:0000316Hypertelorism0AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM14121926837300647
HP:0000316HP:0000316Hypertelorism0ANKH CL E G H561721522ORPHA12233915492605145
HP:0000316HP:0000316Hypertelorism0ANKH CL E G H56172123000Craniometaphyseal dysplasia, autosomal dominant123000C1852502OMIM12233915492605145
HP:0000316HP:0000316Hypertelorism0ANKRD11 CL E G H291232332ORPHA113472121316611192
HP:0000316HP:0000316Hypertelorism0ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM113472121316611192
HP:0000316HP:0000316Hypertelorism0ANTXR1 CL E G H841682067ORPHA1142421014606410
HP:0000316HP:0000316Hypertelorism0ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM1142421014606410
HP:0000316HP:0000316Hypertelorism0AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1859575607243
HP:0000316HP:0000316Hypertelorism0APC CL E G H324261584ORPHA119517734583611731
HP:0000316HP:0000316Hypertelorism0APC CL E G H3243258Lindstrom syndromeORPHA119517734583611731
HP:0000316HP:0000316Hypertelorism0APC2 CL E G H10297821ORPHA1315624036612034
HP:0000316HP:0000316Hypertelorism0ARID1B CL E G H57492251056ORPHA118857518040614556
HP:0000316HP:0000316Hypertelorism0ASXL1 CL E G H17102397297ORPHA14119918318612990
HP:0000316HP:0000316Hypertelorism0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM14119918318612990
HP:0000316HP:0000316Hypertelorism0ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM168123805612991
HP:0000316HP:0000316Hypertelorism0ASXL3 CL E G H80816615485Bainbridge-Ropers syndrome615485C3809650OMIM15017429357615115
HP:0000316HP:0000316Hypertelorism0ATP6V0A2 CL E G H235452834ORPHA15630918481611716
HP:0000316HP:0000316Hypertelorism0ATP6V0A2 CL E G H23545357074ORPHA15630918481611716
HP:0000316HP:0000316Hypertelorism0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM15630918481611716
HP:0000316HP:0000316Hypertelorism0ATP6V1A CL E G H523357074ORPHA1947851607027
HP:0000316HP:0000316Hypertelorism0ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1947851607027
HP:0000316HP:0000316Hypertelorism0ATP6V1E1 CL E G H529357074ORPHA1278857108746
HP:0000316HP:0000316Hypertelorism0ATP6V1E1 CL E G H529617402CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC617402C4479387OMIM1278857108746
HP:0000316HP:0000316Hypertelorism0ATRX CL E G H546847ORPHA1170663886300032
HP:0000316HP:0000316Hypertelorism0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM1170663886300032
HP:0000316HP:0000316Hypertelorism0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0000316HP:0000316Hypertelorism0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM16224214262607270
HP:0000316HP:0000316Hypertelorism0AVP CL E G H551125700Neurohypophyseal diabetes insipidus125700C0687720OMIM18369894192340
HP:0000316HP:0000316Hypertelorism0B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM11343923606374
HP:0000316HP:0000316Hypertelorism0B3GLCT CL E G H145173709ORPHA11518120207610308
HP:0000316HP:0000316Hypertelorism0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11518120207610308
HP:0000316HP:0000316Hypertelorism0B9D1 CL E G H27077564ORPHA11015824123614144
HP:0000316HP:0000316Hypertelorism0B9D2 CL E G H80776564ORPHA144028636611951
HP:0000316HP:0000316Hypertelorism0BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM1126513222606558
HP:0000316HP:0000316Hypertelorism0BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM1126513222606558
HP:0000316HP:0000316Hypertelorism0BGN CL E G H633300989Meester-loeys syndrome300989C4310811OMIM192261044301870
HP:0000316HP:0000316Hypertelorism0BMP2 CL E G H650261295ORPHA137691069112261
HP:0000316HP:0000316Hypertelorism0BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM11914824154608699
HP:0000316HP:0000316Hypertelorism0BPTF CL E G H2186529962ORPHA114803581601819
HP:0000316HP:0000316Hypertelorism0BPTF CL E G H2186617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES617755C4540327OMIM114803581601819
HP:0000316HP:0000316Hypertelorism0BRAF CL E G H673648ORPHA1684901097164757
HP:0000316HP:0000316Hypertelorism0BRAF CL E G H673500ORPHA1684901097164757
HP:0000316HP:0000316Hypertelorism0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1684901097164757
HP:0000316HP:0000316Hypertelorism0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA1684901097164757
HP:0000316HP:0000316Hypertelorism0BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM1684901097164757
HP:0000316HP:0000316Hypertelorism0BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM1684901097164757
HP:0000316HP:0000316Hypertelorism0BRAF CL E G H673613706Noonan syndrome 7613706C3150970OMIM1684901097164757
HP:0000316HP:0000316Hypertelorism0BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM12824114981100113705
HP:0000316HP:0000316Hypertelorism0BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM11811514255602410
HP:0000316HP:0000316Hypertelorism0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM1293231149602860
HP:0000316HP:0000316Hypertelorism0C12orf57 CL E G H1132461777ORPHA1812529521615140
HP:0000316HP:0000316Hypertelorism0C12orf57 CL E G H113246218340Temtamy syndrome218340C1857512OMIM1812529521615140
HP:0000316HP:0000316Hypertelorism0CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM1121671394604065
HP:0000316HP:0000316Hypertelorism0CAMK2A CL E G H815617798MENTAL RETARDATION, AUTOSOMAL DOMINANT 53617798C4540481OMIM116351460114078
HP:0000316HP:0000316Hypertelorism0CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM11123218806611501
HP:0000316HP:0000316Hypertelorism0CASK CL E G H8573163937ORPHA11194461497300172
HP:0000316HP:0000316Hypertelorism0CASK CL E G H8573300422FG syndrome 4300422CN033933OMIM11194461497300172
HP:0000316HP:0000316Hypertelorism0CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM11194461497300172
HP:0000316HP:0000316Hypertelorism0CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM1436101541165360
HP:0000316HP:0000316Hypertelorism0CC2D2A CL E G H57545564ORPHA19658429253612013
HP:0000316HP:0000316Hypertelorism0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM19658429253612013
HP:0000316HP:0000316Hypertelorism0CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA11330529426612753
HP:0000316HP:0000316Hypertelorism0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM11330529426612753
HP:0000316HP:0000316Hypertelorism0CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM1722128909300859
HP:0000316HP:0000316Hypertelorism0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA1722128909300859
HP:0000316HP:0000316Hypertelorism0CCDC47 CL E G H57003618268618268618268OMIM1520248560
HP:0000316HP:0000316Hypertelorism0CCND2 CL E G H89483473ORPHA111851583123833
HP:0000316HP:0000316Hypertelorism0CCNK CL E G H8812618147INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES618147OMIM1321596603544
HP:0000316HP:0000316Hypertelorism0CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM111331736116952
HP:0000316HP:0000316Hypertelorism0CDCA7 CL E G H83879616910Immunodeficiency-centromeric instability-facial anomalies syndrome 3616910C4310799OMIM164614628609937
HP:0000316HP:0000316Hypertelorism0CDH1 CL E G H9991997ORPHA126424541748192090
HP:0000316HP:0000316Hypertelorism0CDH1 CL E G H999119580Ectropion inferior cleft lip and or palate119580C1861536OMIM126424541748192090
HP:0000316HP:0000316Hypertelorism0CDH11 CL E G H10091299ORPHA110401750600023
HP:0000316HP:0000316Hypertelorism0CDH11 CL E G H1009211380Brachioskeletogenital syndrome211380C0809936OMIM110401750600023
HP:0000316HP:0000316Hypertelorism0CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM17691770603464
HP:0000316HP:0000316Hypertelorism0CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM1221251733603309
HP:0000316HP:0000316Hypertelorism0CENPF CL E G H1063243605Stromme syndrome243605C1855705OMIM181431857600236
HP:0000316HP:0000316Hypertelorism0CEP120 CL E G H153241616300Short-rib thoracic dysplasia 13 with or without polydactyly616300C4225378OMIM198726690613446
HP:0000316HP:0000316Hypertelorism0CEP290 CL E G H80184564ORPHA131088429021610142
HP:0000316HP:0000316Hypertelorism0CEP55 CL E G H55165564ORPHA12341161610000
HP:0000316HP:0000316Hypertelorism0CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM110771918602120
HP:0000316HP:0000316Hypertelorism0CHD4 CL E G H1108617159Sifrim-Hitz-Weiss syndrome617159C4310688OMIM1231341919603277
HP:0000316HP:0000316Hypertelorism0CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1884126620626608892
HP:0000316HP:0000316Hypertelorism0CHRNA1 CL E G H1134253290Lethal multiple pterygium syndrome253290C1854678OMIM1362361955100690
HP:0000316HP:0000316Hypertelorism0CHRND CL E G H1144253290Lethal multiple pterygium syndrome253290C1854678OMIM1262531965100720
HP:0000316HP:0000316Hypertelorism0CHRNG CL E G H11462990ORPHA1351601967100730
HP:0000316HP:0000316Hypertelorism0CHRNG CL E G H1146253290Lethal multiple pterygium syndrome253290C1854678OMIM1351601967100730
HP:0000316HP:0000316Hypertelorism0CHRNG CL E G H1146265000Multiple pterygium syndrome Escobar type265000C0265261OMIM1351601967100730
HP:0000316HP:0000316Hypertelorism0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM1229624464608429
HP:0000316HP:0000316Hypertelorism0CHST3 CL E G H9469263463ORPHA1392651971603799
HP:0000316HP:0000316Hypertelorism0CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1392651971603799
HP:0000316HP:0000316Hypertelorism0CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM1392651971603799
HP:0000316HP:0000316Hypertelorism0CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM1151131985605629
HP:0000316HP:0000316Hypertelorism0CNTN1 CL E G H1272612540Myopathy, congenital, compton-north612540C2675527OMIM122502171600016
HP:0000316HP:0000316Hypertelorism0COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM131346545606973
HP:0000316HP:0000316Hypertelorism0COL11A1 CL E G H1301560ORPHA11065602186120280
HP:0000316HP:0000316Hypertelorism0COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM11065602186120280
HP:0000316HP:0000316Hypertelorism0COL11A2 CL E G H13023450Mehta Lewis Patton syndromeORPHA1594712187120290
HP:0000316HP:0000316Hypertelorism0COL1A1 CL E G H12771899ORPHA196711052197120150
HP:0000316HP:0000316Hypertelorism0COL1A2 CL E G H12781899ORPHA15237942198120160
HP:0000316HP:0000316Hypertelorism0COL27A1 CL E G H85301615155Steel syndrome615155C3554594OMIM1825822986608461
HP:0000316HP:0000316Hypertelorism0COL2A1 CL E G H128093346ORPHA15707312200120140
HP:0000316HP:0000316Hypertelorism0COL2A1 CL E G H128094068ORPHA15707312200120140
HP:0000316HP:0000316Hypertelorism0COL2A1 CL E G H12803450Mehta Lewis Patton syndromeORPHA15707312200120140
HP:0000316HP:0000316Hypertelorism0COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA164516472201120180
HP:0000316HP:0000316Hypertelorism0COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA115916302209120215
HP:0000316HP:0000316Hypertelorism0COLEC10 CL E G H10584293843ORPHA14532220607620
HP:0000316HP:0000316Hypertelorism0COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM14532220607620
HP:0000316HP:0000316Hypertelorism0COLEC11 CL E G H78989293843ORPHA1135917213612502
HP:0000316HP:0000316Hypertelorism0COLEC11 CL E G H78989265050Carnevale syndrome265050C0796279OMIM1135917213612502
HP:0000316HP:0000316Hypertelorism0COX7B CL E G H1349300887Linear skin defects with multiple congenital anomalies 2300887C3550921OMIM151642291300885
HP:0000316HP:0000316Hypertelorism0CPLANE1 CL E G H652502754ORPHA111859425801614571
HP:0000316HP:0000316Hypertelorism0CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM111859425801614571
HP:0000316HP:0000316Hypertelorism0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM131432309605032
HP:0000316HP:0000316Hypertelorism0CPLX1 CL E G H10815617976EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63617976CN244926OMIM131432309605032
HP:0000316HP:0000316Hypertelorism0CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM1201022457115440
HP:0000316HP:0000316Hypertelorism0CSPP1 CL E G H79848564ORPHA12725726193611654
HP:0000316HP:0000316Hypertelorism0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM111642494602618
HP:0000316HP:0000316Hypertelorism0CTNND1 CL E G H15001997ORPHA117352515601045
HP:0000316HP:0000316Hypertelorism0CTNND1 CL E G H1500617681BLEPHAROCHEILODONTIC SYNDROME 2617681C4540127OMIM117352515601045
HP:0000316HP:0000316Hypertelorism0CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA1371612516604275
HP:0000316HP:0000316Hypertelorism0CTU2 CL E G H348180618142MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME618142OMIM1410328005617057
HP:0000316HP:0000316Hypertelorism0DCHS1 CL E G H8642601390601390601390OMIM12418013681603057
HP:0000316HP:0000316Hypertelorism0DDR2 CL E G H4921271665Spondylometaepiphyseal dysplasia short limb-hand type271665C1849011OMIM1101202731191311
HP:0000316HP:0000316Hypertelorism0DDX59 CL E G H834792919ORPHA163425360615464
HP:0000316HP:0000316Hypertelorism0DDX59 CL E G H83479174300Orofaciodigital syndrome 5174300C1868118OMIM163425360615464
HP:0000316HP:0000316Hypertelorism0DEAF1 CL E G H10522819ORPHA11712914677602635
HP:0000316HP:0000316Hypertelorism0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM12183762860602858
HP:0000316HP:0000316Hypertelorism0DLX4 CL E G H1748616788Orofacial cleft 15616788C4225209OMIM11222917601911
HP:0000316HP:0000316Hypertelorism0DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM1116027030617048
HP:0000316HP:0000316Hypertelorism0DNMT3B CL E G H1789242860Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency242860C0398788OMIM1572672979602900
HP:0000316HP:0000316Hypertelorism0DOCK6 CL E G H57572614219Adams-Oliver syndrome 2614219C3280182OMIM12221919189614194
HP:0000316HP:0000316Hypertelorism0DOK7 CL E G H285489994ORPHA17545826594610285
HP:0000316HP:0000316Hypertelorism0DOK7 CL E G H285489208150Pena-Shokeir syndrome type I208150C1276035OMIM17545826594610285
HP:0000316HP:0000316Hypertelorism0DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM19149964601671
HP:0000316HP:0000316Hypertelorism0DPH1 CL E G H1801616901Developmental delay with short stature, dysmorphic features, and sparse hair616901C4310801OMIM16923003603527
HP:0000316HP:0000316Hypertelorism0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM191203005603503
HP:0000316HP:0000316Hypertelorism0DSE CL E G H29940615539Ehlers-Danlos syndrome, musculocontractural type 2615539C3809845OMIM1311521144605942
HP:0000316HP:0000316Hypertelorism0DVL1 CL E G H18553107ORPHA1192443084601365
HP:0000316HP:0000316Hypertelorism0DVL1 CL E G H1855180700Robinow syndrome180700C0265205OMIM1192443084601365
HP:0000316HP:0000316Hypertelorism0DVL1 CL E G H1855616331Robinow syndrome, autosomal dominant 2616331C4225363OMIM1192443084601365
HP:0000316HP:0000316Hypertelorism0DVL3 CL E G H18573107ORPHA115773087601368
HP:0000316HP:0000316Hypertelorism0DVL3 CL E G H1857180700Robinow syndrome180700C0265205OMIM115773087601368
HP:0000316HP:0000316Hypertelorism0EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM12614719087607407
HP:0000316HP:0000316Hypertelorism0EED CL E G H87263447ORPHA19493188605984
HP:0000316HP:0000316Hypertelorism0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM19493188605984
HP:0000316HP:0000316Hypertelorism0EFEMP2 CL E G H30008614437Autosomal recessive cutis laxa type 1B614437C3280798OMIM1171803219604633
HP:0000316HP:0000316Hypertelorism0EFNB1 CL E G H19471520ORPHA11181813226300035
HP:0000316HP:0000316Hypertelorism0EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM11181813226300035
HP:0000316HP:0000316Hypertelorism0EHMT1 CL E G H7981396147ORPHA19474624650607001
HP:0000316HP:0000316Hypertelorism0EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM19474624650607001
HP:0000316HP:0000316Hypertelorism0EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM1811253255604032
HP:0000316HP:0000316Hypertelorism0ELN CL E G H200690348ORPHA11275233327130160
HP:0000316HP:0000316Hypertelorism0EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM16849529331615068
HP:0000316HP:0000316Hypertelorism0ERF CL E G H2077617180Chitayat syndrome617180C4310679OMIM119753444611888
HP:0000316HP:0000316Hypertelorism0ERF CL E G H2077207EchinococcosisORPHA119753444611888
HP:0000316HP:0000316Hypertelorism0ERF CL E G H2077600775Lambdoidal craniosynostosis600775C1833340OMIM119753444611888
HP:0000316HP:0000316Hypertelorism0ERMARD CL E G H5578075857ORPHA1214521056615532
HP:0000316HP:0000316Hypertelorism0ESCO2 CL E G H1575703103ORPHA13121527230609353
HP:0000316HP:0000316Hypertelorism0ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM13121527230609353
HP:0000316HP:0000316Hypertelorism0EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12229137606180
HP:0000316HP:0000316Hypertelorism0EXT2 CL E G H2132616682Seizures, scoliosis, and macrocephaly syndrome616682C4225248OMIM12582753513608210
HP:0000316HP:0000316Hypertelorism0EZH2 CL E G H21463447ORPHA1422353527601573
HP:0000316HP:0000316Hypertelorism0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM1422353527601573
HP:0000316HP:0000316Hypertelorism0FAM111A CL E G H6390193325ORPHA194124725615292
HP:0000316HP:0000316Hypertelorism0FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM12813922140611061
HP:0000316HP:0000316Hypertelorism0FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA13731723109612411
HP:0000316HP:0000316Hypertelorism0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13731723109612411
HP:0000316HP:0000316Hypertelorism0FBLN5 CL E G H1051690348ORPHA1231423602604580
HP:0000316HP:0000316Hypertelorism0FBN1 CL E G H22002462ORPHA1272142843603134797
HP:0000316HP:0000316Hypertelorism0FBN1 CL E G H2200614185Geleophysic dysplasia 2614185C3280054OMIM1272142843603134797
HP:0000316HP:0000316Hypertelorism0FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM1267713590607871
HP:0000316HP:0000316Hypertelorism0FGD1 CL E G H2245915ORPHA1512763663300546
HP:0000316HP:0000316Hypertelorism0FGF10 CL E G H2255149730Levy-Hollister syndrome149730C0265269OMIM116473666602115
HP:0000316HP:0000316Hypertelorism0FGF20 CL E G H262811848ORPHA13823677605558
HP:0000316HP:0000316Hypertelorism0FGFR1 CL E G H22602645ORPHA12653883688136350
HP:0000316HP:0000316Hypertelorism0FGFR1 CL E G H226093258ORPHA12653883688136350
HP:0000316HP:0000316Hypertelorism0FGFR1 CL E G H22602117Encephalopathy recurrent of childhoodORPHA12653883688136350
HP:0000316HP:0000316Hypertelorism0FGFR1 CL E G H2260615465Hartsfield syndrome615465C1845146OMIM12653883688136350
HP:0000316HP:0000316Hypertelorism0FGFR1 CL E G H2260166250Osteoglophonic dysplasia166250C0432283OMIM12653883688136350
HP:0000316HP:0000316Hypertelorism0FGFR1 CL E G H2260101600Pfeiffer syndrome101600C1863356OMIM12653883688136350
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H2263794ORPHA11593363689176943
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H226393259ORPHA11593363689176943
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H226387ORPHA11593363689176943
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H226393258ORPHA11593363689176943
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H2263168624ORPHA11593363689176943
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H2263313855ORPHA11593363689176943
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H226393260ORPHA11593363689176943
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM11593363689176943
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H2263614592Bent bone dysplasia syndrome614592C3281247OMIM11593363689176943
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H22631540Corpus callosum agenesis polysyndactylyORPHA11593363689176943
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H2263123500Crouzon syndrome123500C0010273OMIM11593363689176943
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H2263123790Cutis Gyrata syndrome of Beare and Stevenson123790C1852406OMIM11593363689176943
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H2263207EchinococcosisORPHA11593363689176943
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H2263149730Levy-Hollister syndrome149730C0265269OMIM11593363689176943
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H2263101600Pfeiffer syndrome101600C1863356OMIM11593363689176943
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H2263101400Saethre-Chotzen syndrome101400C0175699OMIM11593363689176943
HP:0000316HP:0000316Hypertelorism0FGFR3 CL E G H226153271ORPHA1774313690134934
HP:0000316HP:0000316Hypertelorism0FGFR3 CL E G H226193262ORPHA1774313690134934
HP:0000316HP:0000316Hypertelorism0FGFR3 CL E G H2261794ORPHA1774313690134934
HP:0000316HP:0000316Hypertelorism0FGFR3 CL E G H2261612247Crouzon syndrome with acanthosis nigricans612247C2677099OMIM1774313690134934
HP:0000316HP:0000316Hypertelorism0FGFR3 CL E G H2261149730Levy-Hollister syndrome149730C0265269OMIM1774313690134934
HP:0000316HP:0000316Hypertelorism0FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM1774313690134934
HP:0000316HP:0000316Hypertelorism0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM171993693605830
HP:0000316HP:0000316Hypertelorism0FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM12168903700136850
HP:0000316HP:0000316Hypertelorism0FIBP CL E G H9158617107Thauvin-Robinet-Faivre syndrome617107C4310715OMIM12293705608296
HP:0000316HP:0000316Hypertelorism0FIG4 CL E G H98963472MeningococcemiaORPHA17142516873609390
HP:0000316HP:0000316Hypertelorism0FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM17142516873609390
HP:0000316HP:0000316Hypertelorism0FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1215103627310607273
HP:0000316HP:0000316Hypertelorism0FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA171253749193067
HP:0000316HP:0000316Hypertelorism0FLII CL E G H2314819ORPHA121533750600362
HP:0000316HP:0000316Hypertelorism0FLNA CL E G H231690652ORPHA127114723754300017
HP:0000316HP:0000316Hypertelorism0FLNA CL E G H231690650ORPHA127114723754300017
HP:0000316HP:0000316Hypertelorism0FLNA CL E G H23161826Dexamethasone sensitive hypertensionORPHA127114723754300017
HP:0000316HP:0000316Hypertelorism0FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM127114723754300017
HP:0000316HP:0000316Hypertelorism0FLNA CL E G H23162484Glaucoma type 1CORPHA127114723754300017
HP:0000316HP:0000316Hypertelorism0FLNA CL E G H2316300048Intestinal pseudoobstruction neuronal chronic idiopathic X-linked300048C2746068OMIM127114723754300017
HP:0000316HP:0000316Hypertelorism0FLNA CL E G H2316309350Melnick-Needles syndrome309350C0025237OMIM127114723754300017
HP:0000316HP:0000316Hypertelorism0FLNA CL E G H2316311300Oto-palato-digital syndrome, type I311300C0265251OMIM127114723754300017
HP:0000316HP:0000316Hypertelorism0FLNA CL E G H2316304120Oto-palato-digital syndrome, type II304120C1844696OMIM127114723754300017
HP:0000316HP:0000316Hypertelorism0FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM127114723754300017
HP:0000316HP:0000316Hypertelorism0FLNB CL E G H2317503ORPHA11225203755603381
HP:0000316HP:0000316Hypertelorism0FLNB CL E G H2317150250Larsen syndrome, dominant type150250C1835564OMIM11225203755603381
HP:0000316HP:0000316Hypertelorism0FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM11225203755603381
HP:0000316HP:0000316Hypertelorism0FOXC1 CL E G H2296602482Axenfeld-Rieger syndrome type 3602482C2678503OMIM11392153800601090
HP:0000316HP:0000316Hypertelorism0FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM1762413823605515
HP:0000316HP:0000316Hypertelorism0FRAS1 CL E G H801442052ORPHA16167519185607830
HP:0000316HP:0000316Hypertelorism0FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM16167519185607830
HP:0000316HP:0000316Hypertelorism0FREM1 CL E G H1583262717Holmes Borden syndromeORPHA13545423399608944
HP:0000316HP:0000316Hypertelorism0FREM1 CL E G H158326248450Marles Greenberg Persaud syndrome248450C1855425OMIM13545423399608944
HP:0000316HP:0000316Hypertelorism0FREM2 CL E G H3416402052ORPHA12551025396608945
HP:0000316HP:0000316Hypertelorism0FUCA1 CL E G H2517230000Fucosidosis230000C0016788OMIM1341094006612280
HP:0000316HP:0000316Hypertelorism0FZD2 CL E G H25353107ORPHA17304040600667
HP:0000316HP:0000316Hypertelorism0FZD2 CL E G H253593328ORPHA17304040600667
HP:0000316HP:0000316Hypertelorism0GATAD2B CL E G H57459615074Mental retardation, autosomal dominant 18615074C3554448OMIM1149630778614998
HP:0000316HP:0000316Hypertelorism0GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14942064177606463
HP:0000316HP:0000316Hypertelorism0GJA1 CL E G H26971522ORPHA11091414274121014
HP:0000316HP:0000316Hypertelorism0GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM11091414274121014
HP:0000316HP:0000316Hypertelorism0GJA1 CL E G H26972710Hm syndromeORPHA11091414274121014
HP:0000316HP:0000316Hypertelorism0GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM1371864289300474
HP:0000316HP:0000316Hypertelorism0GLB1 CL E G H2720230500Infantile GM1 gangliosidosis230500C0268271OMIM12313084298611458
HP:0000316HP:0000316Hypertelorism0GLE1 CL E G H27331486Congenital herpes simplexORPHA1181644315603371
HP:0000316HP:0000316Hypertelorism0GLI3 CL E G H2737380ORPHA12445374319165240
HP:0000316HP:0000316Hypertelorism0GLI3 CL E G H2737672Angiofollicular ganglionic hyperplasiaORPHA12445374319165240
HP:0000316HP:0000316Hypertelorism0GLI3 CL E G H273736Chromosome 3 duplication syndromeC2931333ORPHA12445374319165240
HP:0000316HP:0000316Hypertelorism0GLI3 CL E G H2737175700Greig cephalopolysyndactyly syndrome175700C0265306OMIM12445374319165240
HP:0000316HP:0000316Hypertelorism0GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA122247523657603824
HP:0000316HP:0000316Hypertelorism0GNE CL E G H10020269921Sialuria269921C0342853OMIM122247523657603824
HP:0000316HP:0000316Hypertelorism0GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA1985264451300037
HP:0000316HP:0000316Hypertelorism0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM1985264451300037
HP:0000316HP:0000316Hypertelorism0GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA151964452300168
HP:0000316HP:0000316Hypertelorism0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM151964452300168
HP:0000316HP:0000316Hypertelorism0GREB1L CL E G H800001848ORPHA1398731042617782
HP:0000316HP:0000316Hypertelorism0GRIP1 CL E G H234262052ORPHA11815918708604597
HP:0000316HP:0000316Hypertelorism0HACE1 CL E G H57531464282ORPHA1136321033610876
HP:0000316HP:0000316Hypertelorism0HBA1 CL E G H303998791ORPHA12173464823141800
HP:0000316HP:0000316Hypertelorism0HBA2 CL E G H304098791ORPHA12962744824141850
HP:0000316HP:0000316Hypertelorism0HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM15622713315300269
HP:0000316HP:0000316Hypertelorism0HELLS CL E G H3070616911Immunodeficiency-centromeric instability-facial anomalies syndrome 4616911C4310798OMIM16514861603946
HP:0000316HP:0000316Hypertelorism0HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM191734867605109
HP:0000316HP:0000316Hypertelorism0HMGA2 CL E G H809194063ORPHA121235009600698
HP:0000316HP:0000316Hypertelorism0HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM141745042300610
HP:0000316HP:0000316Hypertelorism0HNRNPU CL E G H3192238769ORPHA1683215048602869
HP:0000316HP:0000316Hypertelorism0HRAS CL E G H3265137550Congenital giant melanocytic nevus137550C1842036OMIM1342955173190020
HP:0000316HP:0000316Hypertelorism0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM1342955173190020
HP:0000316HP:0000316Hypertelorism0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM11013055213601860
HP:0000316HP:0000316Hypertelorism0IFT43 CL E G H112752617866SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY617866CN795020OMIM176429669614068
HP:0000316HP:0000316Hypertelorism0IL1RAPL1 CL E G H11141300143Mental retardation 21, X-linked300143C0796227OMIM1422735996300206
HP:0000316HP:0000316Hypertelorism0INPPL1 CL E G H3636258480Opsismodysplasia258480C0432219OMIM132636080600829
HP:0000316HP:0000316Hypertelorism0INSR CL E G H3643508Acroosteolysis dominant typeORPHA11964076091147670
HP:0000316HP:0000316Hypertelorism0INTU CL E G H27152617925SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY617925CN902090OMIM1123229239610621
HP:0000316HP:0000316Hypertelorism0IQSEC2 CL E G H23096819ORPHA15753929059300522
HP:0000316HP:0000316Hypertelorism0IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM164014361606195
HP:0000316HP:0000316Hypertelorism0ITGA3 CL E G H3675614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital614748C3553636OMIM111606139605025
HP:0000316HP:0000316Hypertelorism0ITGA8 CL E G H85161848ORPHA18566144604063
HP:0000316HP:0000316Hypertelorism0ITGA8 CL E G H8516191830Renal adysplasia191830C1619700OMIM18566144604063
HP:0000316HP:0000316Hypertelorism0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM16206456188601920
HP:0000316HP:0000316Hypertelorism0KAT6B CL E G H2352285201ORPHA17622817582605880
HP:0000316HP:0000316Hypertelorism0KAT6B CL E G H23522648ORPHA17622817582605880
HP:0000316HP:0000316Hypertelorism0KCNH1 CL E G H3756611816Temple-Baraitser syndrome611816C2678486OMIM113916250603305
HP:0000316HP:0000316Hypertelorism0KCNJ2 CL E G H3759170390Andersen Tawil syndrome170390C1563715OMIM1943436263600681
HP:0000316HP:0000316Hypertelorism0KIAA0556 CL E G H23247616784Joubert syndrome 26616784C4084843OMIM1229068616650
HP:0000316HP:0000316Hypertelorism0KIAA0753 CL E G H98512754ORPHA176529110617112
HP:0000316HP:0000316Hypertelorism0KIAA0753 CL E G H9851617127Orofaciodigital syndrome XV617127C4310701OMIM176529110617112
HP:0000316HP:0000316Hypertelorism0KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM1167126953611565
HP:0000316HP:0000316Hypertelorism0KIF7 CL E G H3746542754ORPHA14538630497611254
HP:0000316HP:0000316Hypertelorism0KIF7 CL E G H374654166024ORPHA14538630497611254
HP:0000316HP:0000316Hypertelorism0KIF7 CL E G H37465436Chromosome 3 duplication syndromeC2931333ORPHA14538630497611254
HP:0000316HP:0000316Hypertelorism0KIF7 CL E G H374654607131Macrocephaly with multiple epiphyseal dysplasia and distinctive facies607131C1846722OMIM14538630497611254
HP:0000316HP:0000316Hypertelorism0KLHL7 CL E G H5597597297ORPHA11412715646611119
HP:0000316HP:0000316Hypertelorism0KMT2A CL E G H4297319182ORPHA11273797132159555
HP:0000316HP:0000316Hypertelorism0KMT2A CL E G H4297605130Wiedemann-Steiner syndrome605130C1854630OMIM11273797132159555
HP:0000316HP:0000316Hypertelorism0KNL1 CL E G H57082604321Primary autosomal recessive microcephaly 4604321C1858516OMIM1621624054609173
HP:0000316HP:0000316Hypertelorism0KRAS CL E G H3845648ORPHA1452746407190070
HP:0000316HP:0000316Hypertelorism0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA1452746407190070
HP:0000316HP:0000316Hypertelorism0KRAS CL E G H3845609942Noonan syndrome 3609942C1860991OMIM1452746407190070
HP:0000316HP:0000316Hypertelorism0LBR CL E G H3930215140Greenberg dysplasia215140C2931048OMIM1281726518600024
HP:0000316HP:0000316Hypertelorism0LEMD3 CL E G H2359294063ORPHA13413828887607844
HP:0000316HP:0000316Hypertelorism0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM141756556604407
HP:0000316HP:0000316Hypertelorism0LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA141756556604407
HP:0000316HP:0000316Hypertelorism0LIG4 CL E G H3981235ORPHA1403176601601837
HP:0000316HP:0000316Hypertelorism0LMNA CL E G H40001662ORPHA157411526636150330
HP:0000316HP:0000316Hypertelorism0LMNA CL E G H4000275210Lethal tight skin contracture syndrome275210C0406585OMIM157411526636150330
HP:0000316HP:0000316Hypertelorism0LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA1466006694600073
HP:0000316HP:0000316Hypertelorism0LRP4 CL E G H40383258Lindstrom syndromeORPHA1343756696604270
HP:0000316HP:0000316Hypertelorism0LRP4 CL E G H4038614305Sclerosteosis 2614305C3280402OMIM1343756696604270
HP:0000316HP:0000316Hypertelorism0LRP4 CL E G H4038212780Syndactyly Cenani Lenz type212780C1859309OMIM1343756696604270
HP:0000316HP:0000316Hypertelorism0LRP5 CL E G H4041178377ORPHA12214116697603506
HP:0000316HP:0000316Hypertelorism0LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM12146715714607544
HP:0000316HP:0000316Hypertelorism0LRRC8A CL E G H56262613506Agammaglobulinemia 5, autosomal dominant613506C3150753OMIM137419027608360
HP:0000316HP:0000316Hypertelorism0LTBP4 CL E G H8425613177Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities613177C2750804OMIM1182396717604710
HP:0000316HP:0000316Hypertelorism0LZTR1 CL E G H8216648ORPHA1866996742600574
HP:0000316HP:0000316Hypertelorism0LZTR1 CL E G H8216616564Noonan syndrome 10616564C4225280OMIM1866996742600574
HP:0000316HP:0000316Hypertelorism0MAN1B1 CL E G H11253614202Mental retardation, autosomal recessive 15614202C3280127OMIM1272596823604346
HP:0000316HP:0000316Hypertelorism0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA1232136840176872
HP:0000316HP:0000316Hypertelorism0MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM1232136840176872
HP:0000316HP:0000316Hypertelorism0MAP2K2 CL E G H5605638ORPHA1353386842601263
HP:0000316HP:0000316Hypertelorism0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA1353386842601263
HP:0000316HP:0000316Hypertelorism0MAP3K7 CL E G H68851826Dexamethasone sensitive hypertensionORPHA113646859602614
HP:0000316HP:0000316Hypertelorism0MAP3K7 CL E G H6885157800Forney Robinson Pascoe syndrome157800C2931461OMIM113646859602614
HP:0000316HP:0000316Hypertelorism0MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM113646859602614
HP:0000316HP:0000316Hypertelorism0MASP1 CL E G H5648293843ORPHA1221226901600521
HP:0000316HP:0000316Hypertelorism0MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM1221226901600521
HP:0000316HP:0000316Hypertelorism0MCTP2 CL E G H557841596ORPHA1910125636616297
HP:0000316HP:0000316Hypertelorism0MED12 CL E G H9968305450FG syndrome305450C0220769OMIM13465011957300188
HP:0000316HP:0000316Hypertelorism0MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM18135022962608771
HP:0000316HP:0000316Hypertelorism0MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM1529728845610197
HP:0000316HP:0000316Hypertelorism0MEF2C CL E G H4208613443Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations613443C3150700OMIM1892456996600662
HP:0000316HP:0000316Hypertelorism0MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM1192253233604267
HP:0000316HP:0000316Hypertelorism0MID1 CL E G H4281300000Opitz-Frias syndrome300000C0175696OMIM1982897095300552
HP:0000316HP:0000316Hypertelorism0MKS1 CL E G H54903564ORPHA1523347121609883
HP:0000316HP:0000316Hypertelorism0MKS1 CL E G H54903249000Meckel syndrome type 1249000C3714506OMIM1523347121609883
HP:0000316HP:0000316Hypertelorism0MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM1271487166120360
HP:0000316HP:0000316Hypertelorism0MOCS1 CL E G H4337252150Molybdenum cofactor deficiency, complementation group A252150C1854988OMIM1351817190603707
HP:0000316HP:0000316Hypertelorism0MOCS2 CL E G H4338252160Molybdenum cofactor deficiency, complementation group B252160C1854989OMIM1161187193603708
HP:0000316HP:0000316Hypertelorism0MTOR CL E G H2475616638Smith-Kingsmore syndrome616638C4225259OMIM1335563942601231
HP:0000316HP:0000316Hypertelorism0MUSK CL E G H4593994ORPHA1222777525601296
HP:0000316HP:0000316Hypertelorism0MUSK CL E G H4593208150Pena-Shokeir syndrome type I208150C1276035OMIM1222777525601296
HP:0000316HP:0000316Hypertelorism0MYH3 CL E G H46212053Ectodermal dysplasia neurosensory deafnessORPHA1453157573160720
HP:0000316HP:0000316Hypertelorism0MYOD1 CL E G H4654994ORPHA15317611159970
HP:0000316HP:0000316Hypertelorism0NALCN CL E G H2592322053Ectodermal dysplasia neurosensory deafnessORPHA16524719082611549
HP:0000316HP:0000316Hypertelorism0NELFA CL E G H7469280Halal Setton Wang syndromeORPHA1416712768606026
HP:0000316HP:0000316Hypertelorism0NF1 CL E G H4763638ORPHA1301164917765613113
HP:0000316HP:0000316Hypertelorism0NF1 CL E G H4763162200Neurofibromatosis, type 1162200C0027831OMIM1301164917765613113
HP:0000316HP:0000316Hypertelorism0NFIX CL E G H4784561ORPHA11041547788164005
HP:0000316HP:0000316Hypertelorism0NKX3-2 CL E G H579613330Spondylo-megaepiphyseal-metaphyseal dysplasia613330C2750066OMIM1478951602183
HP:0000316HP:0000316Hypertelorism0NOTCH2 CL E G H4853955ORPHA1813947882600275
HP:0000316HP:0000316Hypertelorism0NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM13795917883600276
HP:0000316HP:0000316Hypertelorism0NRAS CL E G H4893648ORPHA1141817989164790
HP:0000316HP:0000316Hypertelorism0NRAS CL E G H4893137550Congenital giant melanocytic nevus137550C1842036OMIM1141817989164790
HP:0000316HP:0000316Hypertelorism0NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM1141817989164790
HP:0000316HP:0000316Hypertelorism0NSD1 CL E G H643243447ORPHA152589614234606681
HP:0000316HP:0000316Hypertelorism0NSD1 CL E G H64324821ORPHA152589614234606681
HP:0000316HP:0000316Hypertelorism0NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM152589614234606681
HP:0000316HP:0000316Hypertelorism0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM11422012766602952
HP:0000316HP:0000316Hypertelorism0NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA11422012766602952
HP:0000316HP:0000316Hypertelorism0NSUN2 CL E G H54888235ORPHA1726025994610916
HP:0000316HP:0000316Hypertelorism0NXN CL E G H643591507Congenital unilateral pulmonary hypoplasiaORPHA1513018008612895
HP:0000316HP:0000316Hypertelorism0OFD1 CL E G H84812754ORPHA11625102567300170
HP:0000316HP:0000316Hypertelorism0OFD1 CL E G H84812750ORPHA11625102567300170
HP:0000316HP:0000316Hypertelorism0OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM11625102567300170
HP:0000316HP:0000316Hypertelorism0OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM11625102567300170
HP:0000316HP:0000316Hypertelorism0OGT CL E G H8473300997MENTAL RETARDATION, X-LINKED 106300997C4478379OMIM171478127300255
HP:0000316HP:0000316Hypertelorism0OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM1174618028610107
HP:0000316HP:0000316Hypertelorism0PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM129130032607492
HP:0000316HP:0000316Hypertelorism0PACS2 CL E G H23241618067EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66618067CN252658OMIM129223794610423
HP:0000316HP:0000316Hypertelorism0PAFAH1B1 CL E G H5048217385ORPHA11702558574601545
HP:0000316HP:0000316Hypertelorism0PALB2 CL E G H79728610832Fanconi anemia, complementation group N610832C1835817OMIM1417350326144610355
HP:0000316HP:0000316Hypertelorism0PAX3 CL E G H50771529ORPHA11531818617606597
HP:0000316HP:0000316Hypertelorism0PAX3 CL E G H5077122880Craniofacial deafness hand syndrome122880C1852510OMIM11531818617606597
HP:0000316HP:0000316Hypertelorism0PAX3 CL E G H5077193500Waardenburg syndrome type 1193500C1847800OMIM11531818617606597
HP:0000316HP:0000316Hypertelorism0PDE4D CL E G H5144950ORPHA1452318783600129
HP:0000316HP:0000316Hypertelorism0PDE6D CL E G H51472754ORPHA11398788602676
HP:0000316HP:0000316Hypertelorism0PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM12218621350608769
HP:0000316HP:0000316Hypertelorism0PEPD CL E G H5184742Aortic dissection lentiginosisORPHA1311298840613230
HP:0000316HP:0000316Hypertelorism0PEPD CL E G H5184170100Prolidase deficiency170100C0268532OMIM1311298840613230
HP:0000316HP:0000316Hypertelorism0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11404898850602136
HP:0000316HP:0000316Hypertelorism0PEX2 CL E G H5828614866Peroxisome biogenesis disorder 5a (zellweger)614866C3553940OMIM1182089717170993
HP:0000316HP:0000316Hypertelorism0PEX3 CL E G H8504614882Peroxisome biogenesis disorder 10A614882C3553999OMIM1101168858603164
HP:0000316HP:0000316Hypertelorism0PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM1142809719600414
HP:0000316HP:0000316Hypertelorism0PEX6 CL E G H5190614862Peroxisome biogenesis disorder 4a (zellweger)614862C3553936OMIM11093758859601498
HP:0000316HP:0000316Hypertelorism0PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM11093758859601498
HP:0000316HP:0000316Hypertelorism0PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM1186023719611801
HP:0000316HP:0000316Hypertelorism0PHACTR1 CL E G H221692618298618298618298OMIM124020990608723
HP:0000316HP:0000316Hypertelorism0PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA1231458923606879
HP:0000316HP:0000316Hypertelorism0PHGDH CL E G H26227256520Neu-Laxova syndrome 1256520CN032230OMIM1231458923606879
HP:0000316HP:0000316Hypertelorism0PHIP CL E G H55023617991DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES617991CN248510OMIM1297815673612870
HP:0000316HP:0000316Hypertelorism0PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM13232926270613629
HP:0000316HP:0000316Hypertelorism0PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM1293208957311770
HP:0000316HP:0000316Hypertelorism0PIGL CL E G H94873474Meningoencephalocele-arthrogryposis-hypoplastic thumbORPHA111988966605947
HP:0000316HP:0000316Hypertelorism0PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM111988966605947
HP:0000316HP:0000316Hypertelorism0PIGN CL E G H235562059ORPHA1344168967606097
HP:0000316HP:0000316Hypertelorism0PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM1344168967606097
HP:0000316HP:0000316Hypertelorism0PIGO CL E G H84720614749Hyperphosphatasia with mental retardation syndrome 2614749C3553637OMIM12144923215614730
HP:0000316HP:0000316Hypertelorism0PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM1573798975171834
HP:0000316HP:0000316Hypertelorism0PIK3R2 CL E G H529683473ORPHA191018980603157
HP:0000316HP:0000316Hypertelorism0POLR1A CL E G H258851200Cerebellum agenesis hydrocephalyORPHA159317264616404
HP:0000316HP:0000316Hypertelorism0POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM19230630074614258
HP:0000316HP:0000316Hypertelorism0POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM1922259208124015
HP:0000316HP:0000316Hypertelorism0PPP1CB CL E G H5500617506Noonan syndrome-like disorder with loose anagen hair 2617506C4479577OMIM112409282600590
HP:0000316HP:0000316Hypertelorism0PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM17519302605983
HP:0000316HP:0000316Hypertelorism0PPP2R5D CL E G H5528616355Mental retardation, autosomal dominant 35616355C4225354OMIM111419312601646
HP:0000316HP:0000316Hypertelorism0PPP3CA CL E G H5530617711EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1617711C4540199OMIM111399314114105
HP:0000316HP:0000316Hypertelorism0PRKAR1A CL E G H5573950ORPHA11884519388188830
HP:0000316HP:0000316Hypertelorism0PRKAR1A CL E G H5573101800Acrodysostosis 1 with or without hormone resistance101800C3276228OMIM11884519388188830
HP:0000316HP:0000316Hypertelorism0PSAT1 CL E G H299682671Herrmann Opitz craniosynostosisORPHA11032319129610936
HP:0000316HP:0000316Hypertelorism0PSAT1 CL E G H29968616038Neu-laxova syndrome 2616038C4015019OMIM11032319129610936
HP:0000316HP:0000316Hypertelorism0PSMD12 CL E G H5718529962ORPHA110359557604450
HP:0000316HP:0000316Hypertelorism0PSMD12 CL E G H5718617516Stankiewicz-Isidor syndrome617516C4479599OMIM110359557604450
HP:0000316HP:0000316Hypertelorism0PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM152920319585601309
HP:0000316HP:0000316Hypertelorism0PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM1112819586603673
HP:0000316HP:0000316Hypertelorism0PTDSS1 CL E G H97912658ORPHA17609587612792
HP:0000316HP:0000316Hypertelorism0PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM17609587612792
HP:0000316HP:0000316Hypertelorism0PTEN CL E G H5728744Aortic valves stenosis of the childORPHA165820199588601728
HP:0000316HP:0000316Hypertelorism0PTH1R CL E G H5745156400Metaphyseal chondrodysplasia, Jansen type156400C0265295OMIM1451009608168468
HP:0000316HP:0000316Hypertelorism0PTPN11 CL E G H5781500ORPHA11434759644176876
HP:0000316HP:0000316Hypertelorism0PTPN11 CL E G H5781648ORPHA11434759644176876
HP:0000316HP:0000316Hypertelorism0PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM11434759644176876
HP:0000316HP:0000316Hypertelorism0PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM11434759644176876
HP:0000316HP:0000316Hypertelorism0PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM123424265608625
HP:0000316HP:0000316Hypertelorism0PYCR1 CL E G H5831612940Autosomal recessive cutis laxa type 2B612940C2751987OMIM1411449721179035
HP:0000316HP:0000316Hypertelorism0PYCR1 CL E G H5831614438Autosomal recessive cutis laxa type 3B614438C3280799OMIM1411449721179035
HP:0000316HP:0000316Hypertelorism0QRICH1 CL E G H54870617982VERVERI-BRADY SYNDROME617982CN244927OMIM192524713617387
HP:0000316HP:0000316Hypertelorism0RAF1 CL E G H5894500ORPHA1545089829164760
HP:0000316HP:0000316Hypertelorism0RAF1 CL E G H5894648ORPHA1545089829164760
HP:0000316HP:0000316Hypertelorism0RAF1 CL E G H5894611554LEOPARD syndrome 2611554C1969056OMIM1545089829164760
HP:0000316HP:0000316Hypertelorism0RAF1 CL E G H5894611553Noonan syndrome 5611553C1969057OMIM1545089829164760
HP:0000316HP:0000316Hypertelorism0RAI1 CL E G H10743819ORPHA11164049834607642
HP:0000316HP:0000316Hypertelorism0RAPSN CL E G H5913994ORPHA1602119863601592
HP:0000316HP:0000316Hypertelorism0RAPSN CL E G H5913208150Pena-Shokeir syndrome type I208150C1276035OMIM1602119863601592
HP:0000316HP:0000316Hypertelorism0RASA2 CL E G H5922648ORPHA13739872601589
HP:0000316HP:0000316Hypertelorism0RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA1111311959884614041
HP:0000316HP:0000316Hypertelorism0RBM10 CL E G H8241311900TARP syndrome311900C1839463OMIM1101979896300080
HP:0000316HP:0000316Hypertelorism0RECQL4 CL E G H9401218600Baller-Gerold syndrome218600C0265308OMIM112220289949603780
HP:0000316HP:0000316Hypertelorism0RET CL E G H59791848ORPHA143214969967164761
HP:0000316HP:0000316Hypertelorism0RIPK4 CL E G H541011401ORPHA116222496605706
HP:0000316HP:0000316Hypertelorism0RIT1 CL E G H6016648ORPHA12610610023609591
HP:0000316HP:0000316Hypertelorism0RIT1 CL E G H6016615355Noonan syndrome 8615355C3809233OMIM12610610023609591
HP:0000316HP:0000316Hypertelorism0RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM1516113429300379
HP:0000316HP:0000316Hypertelorism0RMRP CL E G H6023607095Anauxetic dysplasia 1607095CN029084OMIM112341110031157660
HP:0000316HP:0000316Hypertelorism0ROR2 CL E G H49201507Congenital unilateral pulmonary hypoplasiaORPHA14025810257602337
HP:0000316HP:0000316Hypertelorism0ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM14025810257602337
HP:0000316HP:0000316Hypertelorism0RPGRIP1 CL E G H57096564ORPHA114936113436605446
HP:0000316HP:0000316Hypertelorism0RPGRIP1L CL E G H23322564ORPHA15143229168610937
HP:0000316HP:0000316Hypertelorism0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM15143229168610937
HP:0000316HP:0000316Hypertelorism0RPL35A CL E G H6165612528Diamond-Blackfan anemia 5612528C2675859OMIM1148210345180468
HP:0000316HP:0000316Hypertelorism0RPL5 CL E G H6125612561Aase syndrome612561C0265265OMIM17710010360603634
HP:0000316HP:0000316Hypertelorism0RPS19 CL E G H6223105650Diamond-Blackfan anemia 1105650C2676137OMIM11759610402603474
HP:0000316HP:0000316Hypertelorism0RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM117130910432300075
HP:0000316HP:0000316Hypertelorism0RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA117130910432300075
HP:0000316HP:0000316Hypertelorism0RPS7 CL E G H6201612563Diamond-Blackfan anemia 8612563C2675511OMIM1107510440603658
HP:0000316HP:0000316Hypertelorism0RRAS CL E G H6237648ORPHA127510447165090
HP:0000316HP:0000316Hypertelorism0RSPRY1 CL E G H89970616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type616723C4225232OMIM143929420616585
HP:0000316HP:0000316Hypertelorism0RUNX2 CL E G H8601452ORPHA122018110472600211
HP:0000316HP:0000316Hypertelorism0RUNX2 CL E G H860119600Cleidocranial dysostosis119600C0008928OMIM122018110472600211
HP:0000316HP:0000316Hypertelorism0RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM148223625611053
HP:0000316HP:0000316Hypertelorism0RYR1 CL E G H6261324581ORPHA1688309410483180901
HP:0000316HP:0000316Hypertelorism0SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM15714815924607343
HP:0000316HP:0000316Hypertelorism0SEC23A CL E G H1048450814ORPHA144810701610511
HP:0000316HP:0000316Hypertelorism0SEC23A CL E G H10484607812Craniolenticulosutural dysplasia607812C1843042OMIM144810701610511
HP:0000316HP:0000316Hypertelorism0SEC24D CL E G H9871616294Cole-Carpenter syndrome 2616294C4225382OMIM1127810706607186
HP:0000316HP:0000316Hypertelorism0SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM1416010727608166
HP:0000316HP:0000316Hypertelorism0SEMA5A CL E G H9037281Ramer Ladda syndromeORPHA1817410736609297
HP:0000316HP:0000316Hypertelorism0SET CL E G H6418618106MENTAL RETARDATION, AUTOSOMAL DOMINANT 58618106CN253713OMIM177210760600960
HP:0000316HP:0000316Hypertelorism0SETBP1 CL E G H26040798ORPHA14721215573611060
HP:0000316HP:0000316Hypertelorism0SETBP1 CL E G H26040616078Mental retardation, autosomal dominant 29616078C4015141OMIM14721215573611060
HP:0000316HP:0000316Hypertelorism0SETBP1 CL E G H26040269150Schinzel-Giedion syndrome269150C0265227OMIM14721215573611060
HP:0000316HP:0000316Hypertelorism0SETD2 CL E G H29072821ORPHA11943318420612778
HP:0000316HP:0000316Hypertelorism0SH3PXD2B CL E G H285590137834ORPHA12026629242613293
HP:0000316HP:0000316Hypertelorism0SH3PXD2B CL E G H285590249420Frank Ter Haar syndrome249420C1855305OMIM12026629242613293
HP:0000316HP:0000316Hypertelorism0SHOC2 CL E G H8036607721Noonan syndrome-like disorder with loose anagen hair 1607721C1843181OMIM1418415454602775
HP:0000316HP:0000316Hypertelorism0SHROOM4 CL E G H57477300434Stocco dos Santos syndrome300434C1845530OMIM1922829215300579
HP:0000316HP:0000316Hypertelorism0SIN3A CL E G H2594294065ORPHA11611619353607776
HP:0000316HP:0000316Hypertelorism0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11611619353607776
HP:0000316HP:0000316Hypertelorism0SIX2 CL E G H10736488437ORPHA192010888604994
HP:0000316HP:0000316Hypertelorism0SKI CL E G H64972462ORPHA12450210896164780
HP:0000316HP:0000316Hypertelorism0SKIV2L CL E G H6499614602Trichohepatoenteric syndrome 2614602C3281289OMIM13612010898600478
HP:0000316HP:0000316Hypertelorism0SLC12A6 CL E G H9990218000Andermann syndrome218000C0795950OMIM12038710914604878
HP:0000316HP:0000316Hypertelorism0SLC25A24 CL E G H299572095ORPHA123520662608744
HP:0000316HP:0000316Hypertelorism0SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM123520662608744
HP:0000316HP:0000316Hypertelorism0SLC26A2 CL E G H1836628ORPHA15531810994606718
HP:0000316HP:0000316Hypertelorism0SLC29A3 CL E G H553151782ORPHA12619023096612373
HP:0000316HP:0000316Hypertelorism0SLC2A10 CL E G H810313342ORPHA13533913444606145
HP:0000316HP:0000316Hypertelorism0SLC2A10 CL E G H81031208050Arterial tortuosity syndrome208050C1859726OMIM13533913444606145
HP:0000316HP:0000316Hypertelorism0SLC45A1 CL E G H50651617532INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES617532C4479636OMIM135717939605763
HP:0000316HP:0000316Hypertelorism0SMAD3 CL E G H4088284984ORPHA1955926769603109
HP:0000316HP:0000316Hypertelorism0SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM114712576770600993
HP:0000316HP:0000316Hypertelorism0SMC1A CL E G H8243319182ORPHA110048411111300040
HP:0000316HP:0000316Hypertelorism0SMCHD1 CL E G H23347603457Arhinia choanal atresia microphthalmia603457C1863878OMIM112550029090614982
HP:0000316HP:0000316Hypertelorism0SMG9 CL E G H56006616920Heart and brain malformation syndrome616920C4310793OMIM122925763613176
HP:0000316HP:0000316Hypertelorism0SMO CL E G H66081553ORPHA177111119601500
HP:0000316HP:0000316Hypertelorism0SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM11520611123300105
HP:0000316HP:0000316Hypertelorism0SNAP29 CL E G H934266631ORPHA11352711133604202
HP:0000316HP:0000316Hypertelorism0SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM11352711133604202
HP:0000316HP:0000316Hypertelorism0SOS1 CL E G H6654648ORPHA17566511187182530
HP:0000316HP:0000316Hypertelorism0SOS1 CL E G H6654610733Noonan syndrome 4610733C1853120OMIM17566511187182530
HP:0000316HP:0000316Hypertelorism0SOS2 CL E G H6655648ORPHA1632411188601247
HP:0000316HP:0000316Hypertelorism0SOS2 CL E G H6655616559Noonan syndrome 9616559C4225282OMIM1632411188601247
HP:0000316HP:0000316Hypertelorism0SOST CL E G H50964122860Craniodiaphyseal dysplasia, autosomal dominant122860C2675746OMIM1177013771605740
HP:0000316HP:0000316Hypertelorism0SOST CL E G H50964269500Sclerosteosis 1269500CN032489OMIM1177013771605740
HP:0000316HP:0000316Hypertelorism0SOX9 CL E G H6662140Atresia of small intestineORPHA114915511204608160
HP:0000316HP:0000316Hypertelorism0SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM114915511204608160
HP:0000316HP:0000316Hypertelorism0SPART CL E G H23111101000ORPHA1718318514607111
HP:0000316HP:0000316Hypertelorism0SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM1718318514607111
HP:0000316HP:0000316Hypertelorism0SPECC1L CL E G H233841519ORPHA1815629022614140
HP:0000316HP:0000316Hypertelorism0SPECC1L CL E G H23384145420Brachycephalofrontonasal dysplasia145420C0796179OMIM1815629022614140
HP:0000316HP:0000316Hypertelorism0SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM1815629022614140
HP:0000316HP:0000316Hypertelorism0SPINT2 CL E G H10653270420Congenital secretory diarrhea, sodium type270420C0267663OMIM1122011247605124
HP:0000316HP:0000316Hypertelorism0SPRED1 CL E G H161742611431Legius syndrome611431C1969623OMIM17236220249609291
HP:0000316HP:0000316Hypertelorism0SRD5A3 CL E G H79644612379Congenital disorder of glycosylation type 1Q612379C3150191OMIM11613925812611715
HP:0000316HP:0000316Hypertelorism0STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM1204616950606247
HP:0000316HP:0000316Hypertelorism0STAT3 CL E G H6774147060Hyperimmunoglobulin E syndrome147060C3489795OMIM115529111364102582
HP:0000316HP:0000316Hypertelorism0SUFU CL E G H5168436Chromosome 3 duplication syndromeC2931333ORPHA14753316466607035
HP:0000316HP:0000316Hypertelorism0SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM14753316466607035
HP:0000316HP:0000316Hypertelorism0SUFU CL E G H51684617757JOUBERT SYNDROME 32617757C4540342OMIM14753316466607035
HP:0000316HP:0000316Hypertelorism0SUZ12 CL E G H235123447ORPHA137217101606245
HP:0000316HP:0000316Hypertelorism0TAPT1 CL E G H202018616897Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type616897C4225162OMIM136626887612758
HP:0000316HP:0000316Hypertelorism0TBC1D24 CL E G H5746579500ORPHA15656429203613577
HP:0000316HP:0000316Hypertelorism0TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM12317511581604649
HP:0000316HP:0000316Hypertelorism0TBCE CL E G H690593324ORPHA1816111582604934
HP:0000316HP:0000316Hypertelorism0TBCE CL E G H6905244460Kenny-Caffey syndrome type 1244460C1855648OMIM1816111582604934
HP:0000316HP:0000316Hypertelorism0TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM12516129529608628
HP:0000316HP:0000316Hypertelorism0TBR1 CL E G H107161617ORPHA1187811590604616
HP:0000316HP:0000316Hypertelorism0TBX1 CL E G H68991727ORPHA18255311592602054
HP:0000316HP:0000316Hypertelorism0TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM18255311592602054
HP:0000316HP:0000316Hypertelorism0TBX15 CL E G H691393333ORPHA153811594604127
HP:0000316HP:0000316Hypertelorism0TBX2 CL E G H6909618223VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION618223OMIM1155311597600747
HP:0000316HP:0000316Hypertelorism0TCTN2 CL E G H79867564ORPHA11520325774613846
HP:0000316HP:0000316Hypertelorism0TCTN3 CL E G H261232754ORPHA1129524519613847
HP:0000316HP:0000316Hypertelorism0TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA1129524519613847
HP:0000316HP:0000316Hypertelorism0TCTN3 CL E G H26123258860Orofacial-digital syndrome IV258860C0406727OMIM1129524519613847
HP:0000316HP:0000316Hypertelorism0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM1448211742107580
HP:0000316HP:0000316Hypertelorism0TFAP2B CL E G H702146627ORPHA1155711743601601
HP:0000316HP:0000316Hypertelorism0TFAP2B CL E G H7021169100Char syndrome169100C1868570OMIM1155711743601601
HP:0000316HP:0000316Hypertelorism0TGFBR1 CL E G H704660030ORPHA17954111772190181
HP:0000316HP:0000316Hypertelorism0TGFBR1 CL E G H7046609192Loeys-Dietz syndrome 1609192C2697933OMIM17954111772190181
HP:0000316HP:0000316Hypertelorism0TGFBR2 CL E G H704860030ORPHA114857211773190182
HP:0000316HP:0000316Hypertelorism0TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM114857211773190182
HP:0000316HP:0000316Hypertelorism0THRA CL E G H7067614450Hypothyroidism, congenital, nongoitrous, 6614450C3280817OMIM1143411796190120
HP:0000316HP:0000316Hypertelorism0TMCO1 CL E G H544991394ORPHA153318188614123
HP:0000316HP:0000316Hypertelorism0TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM153318188614123
HP:0000316HP:0000316Hypertelorism0TMEM107 CL E G H84314564ORPHA138128128616183
HP:0000316HP:0000316Hypertelorism0TMEM216 CL E G H512592754ORPHA1810925018613277
HP:0000316HP:0000316Hypertelorism0TMEM216 CL E G H51259564ORPHA1810925018613277
HP:0000316HP:0000316Hypertelorism0TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM1810925018613277
HP:0000316HP:0000316Hypertelorism0TMEM231 CL E G H795832752ORPHA11915037234614949
HP:0000316HP:0000316Hypertelorism0TMEM231 CL E G H79583564ORPHA11915037234614949
HP:0000316HP:0000316Hypertelorism0TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM11122114432614423
HP:0000316HP:0000316Hypertelorism0TMEM67 CL E G H91147564ORPHA117431628396609884
HP:0000316HP:0000316Hypertelorism0TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM117431628396609884
HP:0000316HP:0000316Hypertelorism0TMEM94 CL E G H9772618316618316618316OMIM132828983618163
HP:0000316HP:0000316Hypertelorism0TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM152616197608679
HP:0000316HP:0000316Hypertelorism0TPRKB CL E G H51002617731GALLOWAY-MOWAT SYNDROME 5617731C4540274OMIM121324259608680
HP:0000316HP:0000316Hypertelorism0TRAPPC9 CL E G H83696352530ORPHA11829830832611966
HP:0000316HP:0000316Hypertelorism0TRIM37 CL E G H4591253250Mulibrey nanism syndrome253250C0524582OMIM1231567523605073
HP:0000316HP:0000316Hypertelorism0TRIP12 CL E G H9320617752MENTAL RETARDATION, AUTOSOMAL DOMINANT 49617752C4540324OMIM1339912306604506
HP:0000316HP:0000316Hypertelorism0TTC37 CL E G H9652222470Trichohepatoenteric syndrome 1222470CN034858OMIM16412823639614589
HP:0000316HP:0000316Hypertelorism0TUBB CL E G H203068156610Michelin-tire baby156610C0473586OMIM183320778191130
HP:0000316HP:0000316Hypertelorism0TWIST1 CL E G H7291794ORPHA120911512428601622
HP:0000316HP:0000316Hypertelorism0TWIST1 CL E G H7291180750Robinow Sorauf syndrome180750C1867146OMIM120911512428601622
HP:0000316HP:0000316Hypertelorism0TWIST1 CL E G H7291101400Saethre-Chotzen syndrome101400C0175699OMIM120911512428601622
HP:0000316HP:0000316Hypertelorism0TWIST1 CL E G H7291617746SWEENEY-COX SYNDROME617746C4540299OMIM120911512428601622
HP:0000316HP:0000316Hypertelorism0TWIST2 CL E G H1175811231ORPHA198820670607556
HP:0000316HP:0000316Hypertelorism0TWIST2 CL E G H117581200110Ablepharon macrostomia syndrome200110C1860224OMIM198820670607556
HP:0000316HP:0000316Hypertelorism0TWIST2 CL E G H117581209885Barber-Say syndrome209885C1319466OMIM198820670607556
HP:0000316HP:0000316Hypertelorism0TXNL4A CL E G H10907608572Burn-McKeown syndrome608572C1837822OMIM11317630551611595
HP:0000316HP:0000316Hypertelorism0TXNL4A CL E G H109071200Cerebellum agenesis hydrocephalyORPHA11317630551611595
HP:0000316HP:0000316Hypertelorism0UMPS CL E G H737230ORPHA11322712563613891
HP:0000316HP:0000316Hypertelorism0VAC14 CL E G H556973472MeningococcemiaORPHA177725507604632
HP:0000316HP:0000316Hypertelorism0VSX1 CL E G H30813614195Craniofacial anomalies and anterior segment dysgenesis syndrome614195C3280099OMIM12410312723605020
HP:0000316HP:0000316Hypertelorism0WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM1257717327615049
HP:0000316HP:0000316Hypertelorism0WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM12026828984610657
HP:0000316HP:0000316Hypertelorism0WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA12026828984610657
HP:0000316HP:0000316Hypertelorism0WDPCP CL E G H51057564ORPHA1817628027613580
HP:0000316HP:0000316Hypertelorism0WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM13129229250613602
HP:0000316HP:0000316Hypertelorism0WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM1129525928616144
HP:0000316HP:0000316Hypertelorism0WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM1127640
HP:0000316HP:0000316Hypertelorism0WNT5A CL E G H74743107ORPHA1115812784164975
HP:0000316HP:0000316Hypertelorism0WNT5A CL E G H7474180700Robinow syndrome180700C0265205OMIM1115812784164975
HP:0000316HP:0000316Hypertelorism0XYLT2 CL E G H6413285194ORPHA1135715517608125
HP:0000316HP:0000316Hypertelorism0YWHAE CL E G H7531217385ORPHA14414612851605066
HP:0000316HP:0000316Hypertelorism0ZBTB18 CL E G H1047236367ORPHA13213813030608433
HP:0000316HP:0000316Hypertelorism0ZBTB18 CL E G H10472612337Mental retardation, autosomal dominant 22612337C2676727OMIM13213813030608433
HP:0000316HP:0000316Hypertelorism0ZBTB24 CL E G H9841614069Immunodeficiency-centromeric instability-facial anomalies syndrome 2614069C3279748OMIM11813421143614064
HP:0000316HP:0000316Hypertelorism0ZEB2 CL E G H9839235730Mowat-Wilson syndrome235730C1856113OMIM129861314881605802
HP:0000316HP:0000316Hypertelorism0ZIC1 CL E G H7545616602Craniosynostosis 6616602C4225269OMIM193712872600470
HP:0000316HP:0000316Hypertelorism0ZIC3 CL E G H7547306955Heterotaxy, visceral, X-linked306955C1844020OMIM14225212874300265
HP:0000316HP:0000316Hypertelorism0ZMPSTE24 CL E G H102691662ORPHA13413612877606480
HP:0000316HP:0000316Hypertelorism0ZMPSTE24 CL E G H10269275210Lethal tight skin contracture syndrome275210C0406585OMIM13413612877606480
HP:0000316HP:0000316Hypertelorism0ZMYND11 CL E G H10771616083Mental retardation, autosomal dominant 30616083C4015167OMIM11511016966608668
HP:0000316HP:0000316Hypertelorism0ZSWIM6 CL E G H57688603671Acromelic frontonasal dysostosis603671C1863616OMIM126229316615951
HP:0000316HP:0000316Hypertelorism0ZSWIM6 CL E G H576881827DextrocardiaC0011813ORPHA126229316615951
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000316HP:0000316Hypertelorism0ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM0813868603214
HP:0000316HP:0000316Hypertelorism0ACTA1 CL E G H58171433ORPHA0217272129102610
HP:0000316HP:0000316Hypertelorism0ACTA1 CL E G H58171439ORPHA0217272129102610
HP:0000316HP:0000316Hypertelorism0ACTA2 CL E G H5991387ORPHA083290130102620
HP:0000316HP:0000316Hypertelorism0ACTG1 CL E G H71614583Baraitser-Winter Syndrome 2614583C3281235OMIM048261144102560
HP:0000316HP:0000316Hypertelorism0ACY1 CL E G H95137754ORPHA01557177104620
HP:0000316HP:0000316Hypertelorism0ALG13 CL E G H79868324422ORPHA01446330881300776
HP:0000316HP:0000316Hypertelorism0ALG9 CL E G H79796263210Gillessen-Kaesbach-Nishimura syndrome263210C1849762OMIM0416015672606941
HP:0000316HP:0000316Hypertelorism0ALX4 CL E G H60529609597Parietal foramina 2609597C1865044OMIM027221450605420
HP:0000316HP:0000316Hypertelorism0ANK1 CL E G H286251066ORPHA0111388492612641
HP:0000316HP:0000316Hypertelorism0ANOS1 CL E G H3730432ArbovirosisORPHA01913466211300836
HP:0000316HP:0000316Hypertelorism0ARVCF CL E G H421567ORPHA02477728602269
HP:0000316HP:0000316Hypertelorism0ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA0493854606939
HP:0000316HP:0000316Hypertelorism0B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM09138930604327
HP:0000316HP:0000316Hypertelorism0BLNK CL E G H2976033110ORPHA039114211604515
HP:0000316HP:0000316Hypertelorism0BRCA1 CL E G H67284ORPHA02824114981100113705
HP:0000316HP:0000316Hypertelorism0BRCA2 CL E G H67584ORPHA03025127061101600185
HP:0000316HP:0000316Hypertelorism0BRIP1 CL E G H8399084ORPHA0202305020473605882
HP:0000316HP:0000316Hypertelorism0CD79A CL E G H97333110ORPHA08531698112205
HP:0000316HP:0000316Hypertelorism0CD79B CL E G H97433110ORPHA03511699147245
HP:0000316HP:0000316Hypertelorism0CDCA7 CL E G H838792268ORPHA064614628609937
HP:0000316HP:0000316Hypertelorism0CHD7 CL E G H55636138ORPHA0884126620626608892
HP:0000316HP:0000316Hypertelorism0CHD7 CL E G H55636432ArbovirosisORPHA0884126620626608892
HP:0000316HP:0000316Hypertelorism0CHRNA7 CL E G H113961200115q13.3 microdeletion syndrome612001C2677613OMIM0573031960118511
HP:0000316HP:0000316Hypertelorism0COL11A1 CL E G H13012021ORPHA01065602186120280
HP:0000316HP:0000316Hypertelorism0COL11A2 CL E G H13022021ORPHA0594712187120290
HP:0000316HP:0000316Hypertelorism0COMT CL E G H1312567ORPHA0155552228116790
HP:0000316HP:0000316Hypertelorism0CSPP1 CL E G H79848397715ORPHA02725726193611654
HP:0000316HP:0000316Hypertelorism0DHCR7 CL E G H1717818ORPHA02183762860602858
HP:0000316HP:0000316Hypertelorism0DNMT3B CL E G H17892268ORPHA0572672979602900
HP:0000316HP:0000316Hypertelorism0DUSP6 CL E G H1848432ArbovirosisORPHA05243072602748
HP:0000316HP:0000316Hypertelorism0DVL3 CL E G H1857616894Robinow syndrome, autosomal dominant 3616894C4225164OMIM015773087601368
HP:0000316HP:0000316Hypertelorism0ELN CL E G H200691387ORPHA01275233327130160
HP:0000316HP:0000316Hypertelorism0EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM0712028957616846
HP:0000316HP:0000316Hypertelorism0EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA06849529331615068
HP:0000316HP:0000316Hypertelorism0ERCC4 CL E G H207284ORPHA0723483436133520
HP:0000316HP:0000316Hypertelorism0EXTL3 CL E G H2137617425Immunoskeletal dysplasia with neurodevelopmental abnormalities617425C4479452OMIM09973518605744
HP:0000316HP:0000316Hypertelorism0FANCA CL E G H217584ORPHA068917063582607139
HP:0000316HP:0000316Hypertelorism0FANCB CL E G H218784ORPHA0213523583300515
HP:0000316HP:0000316Hypertelorism0FANCC CL E G H217684ORPHA0658823584613899
HP:0000316HP:0000316Hypertelorism0FANCD2 CL E G H217784ORPHA0644293585613984
HP:0000316HP:0000316Hypertelorism0FANCE CL E G H217884ORPHA0172013586613976
HP:0000316HP:0000316Hypertelorism0FANCF CL E G H218884ORPHA0162023587613897
HP:0000316HP:0000316Hypertelorism0FANCG CL E G H218984ORPHA0923253588602956
HP:0000316HP:0000316Hypertelorism0FANCI CL E G H5521584ORPHA04552125568611360
HP:0000316HP:0000316Hypertelorism0FANCL CL E G H5512084ORPHA02417620748608111
HP:0000316HP:0000316Hypertelorism0FANCL CL E G H55120614083Fanconi anemia, complementation group L614083C3469528OMIM02417620748608111
HP:0000316HP:0000316Hypertelorism0FANCM CL E G H5769784ORPHA05369723168609644
HP:0000316HP:0000316Hypertelorism0FAT4 CL E G H79633616006Hennekam lymphangiectasia-lymphedema syndrome 2616006C4014939OMIM03731723109612411
HP:0000316HP:0000316Hypertelorism0FBN1 CL E G H220091387ORPHA0272142843603134797
HP:0000316HP:0000316Hypertelorism0FGD1 CL E G H2245305400Aarskog syndrome305400C0175701OMIM0512763663300546
HP:0000316HP:0000316Hypertelorism0FGF17 CL E G H8822432ArbovirosisORPHA05823673603725
HP:0000316HP:0000316Hypertelorism0FGF3 CL E G H224890024ORPHA020353681164950
HP:0000316HP:0000316Hypertelorism0FGF8 CL E G H2253432ArbovirosisORPHA041543686600483
HP:0000316HP:0000316Hypertelorism0FGFR1 CL E G H2260432ArbovirosisORPHA02653883688136350
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H22631555ORPHA01593363689176943
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H226383ORPHA01593363689176943
HP:0000316HP:0000316Hypertelorism0FGFR3 CL E G H226135099ORPHA0774313690134934
HP:0000316HP:0000316Hypertelorism0FOXC1 CL E G H2296782Arthrogryposis IUGR thoracic dystrophyORPHA01392153800601090
HP:0000316HP:0000316Hypertelorism0FOXE3 CL E G H230191387ORPHA031863808601094
HP:0000316HP:0000316Hypertelorism0FREM1 CL E G H158326614485Trigonocephaly 2614485C3280974OMIM03545423399608944
HP:0000316HP:0000316Hypertelorism0GATA6 CL E G H2627217095Conotruncal heart malformations217095C1857586OMIM0851724174601656
HP:0000316HP:0000316Hypertelorism0GNRH1 CL E G H2796432ArbovirosisORPHA012974419152760
HP:0000316HP:0000316Hypertelorism0GNRHR CL E G H2798432ArbovirosisORPHA0591584421138850
HP:0000316HP:0000316Hypertelorism0GP1BB CL E G H2812567ORPHA0534044440138720
HP:0000316HP:0000316Hypertelorism0HELLS CL E G H30702268ORPHA06514861603946
HP:0000316HP:0000316Hypertelorism0HIRA CL E G H7290567ORPHA053994916600237
HP:0000316HP:0000316Hypertelorism0HS6ST1 CL E G H9394432ArbovirosisORPHA08335201604846
HP:0000316HP:0000316Hypertelorism0HSPG2 CL E G H3339800ORPHA0678625273142461
HP:0000316HP:0000316Hypertelorism0IGHM CL E G H350733110ORPHA017815541147020
HP:0000316HP:0000316Hypertelorism0IGLL1 CL E G H354333110ORPHA031865870146770
HP:0000316HP:0000316Hypertelorism0IL11RA CL E G H3590614188Craniosynostosis and dental anomalies614188C3280073OMIM023895967600939
HP:0000316HP:0000316Hypertelorism0JMJD1C CL E G H221037567ORPHA02950912313604503
HP:0000316HP:0000316Hypertelorism0KBTBD13 CL E G H390594171439ORPHA01126037227613727
HP:0000316HP:0000316Hypertelorism0KCNH1 CL E G H37563473MeningoencephaloceleORPHA013916250603305
HP:0000316HP:0000316Hypertelorism0KIAA0586 CL E G H9786397715ORPHA03115519960610178
HP:0000316HP:0000316Hypertelorism0KIF1BP CL E G H2612866629ORPHA01023419609367
HP:0000316HP:0000316Hypertelorism0KIF7 CL E G H374654200990Acrocallosal syndrome, Schinzel type200990C0796147OMIM04538630497611254
HP:0000316HP:0000316Hypertelorism0KISS1 CL E G H3814432ArbovirosisORPHA015256341603286
HP:0000316HP:0000316Hypertelorism0KISS1R CL E G H84634432ArbovirosisORPHA039784510604161
HP:0000316HP:0000316Hypertelorism0KLF13 CL E G H5162161200115q13.3 microdeletion syndrome612001C2677613OMIM0121213672605328
HP:0000316HP:0000316Hypertelorism0KLHL41 CL E G H10324171439ORPHA099816905607701
HP:0000316HP:0000316Hypertelorism0KLHL41 CL E G H10324171433ORPHA099816905607701
HP:0000316HP:0000316Hypertelorism0KREMEN1 CL E G H83999617392Ectodermal dysplasia 13, hair/tooth type617392C4479322OMIM054317550609898
HP:0000316HP:0000316Hypertelorism0LAGE3 CL E G H82702065ORPHA0321926058300060
HP:0000316HP:0000316Hypertelorism0LBR CL E G H3930169400Pelger-Hu√ęt anomaly169400C0030779OMIM0281726518600024
HP:0000316HP:0000316Hypertelorism0LMBR1 CL E G H643272378ORPHA01124013243605522
HP:0000316HP:0000316Hypertelorism0LOX CL E G H401591387ORPHA09676664153455
HP:0000316HP:0000316Hypertelorism0LRP2 CL E G H4036222448Donnai Barrow syndrome222448C1857277OMIM0466006694600073
HP:0000316HP:0000316Hypertelorism0LRRC8A CL E G H5626233110ORPHA037419027608360
HP:0000316HP:0000316Hypertelorism0MAD2L2 CL E G H1045984ORPHA01546764604094
HP:0000316HP:0000316Hypertelorism0MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM0221726776177075
HP:0000316HP:0000316Hypertelorism0MAPRE2 CL E G H10982616734Skin creases, congenital symmetric circumferential, 2616734C4225225OMIM04606891605789
HP:0000316HP:0000316Hypertelorism0MARS2 CL E G H92935616430Combined oxidative phosphorylation deficiency 25616430C4225329OMIM067425133609728
HP:0000316HP:0000316Hypertelorism0MAT2A CL E G H414491387ORPHA02