Human Phenotype Ontology 
Grandparent Node:
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Abnormal ocular adnexa morphology (HP:0030669)help
Parent Node:
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Abnormal eyelid morphology (HP:0000492)help
..Starting node
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Telecanthus (HP:0000506)help
Term ID: 506
Name: Telecanthus
Synonym: Corners of eye widely separated; Dystopia canthorum; Increased distance between medial canthi; Increased intercanthal distance
Definition: Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
Comments:
Reference: HP:0000506
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal eyelash morphology (HP:0000499) help
..expandAbnormal levator palpebrae superioris morphology (HP:3000072) help
..expandAbnormality of the palpebral fissures (HP:0008050) help
..expandAccessory eyelid (HP:0430008) help
..expandAnkyloblepharon (HP:0009755) help
..expandAplasia/Hypoplasia of the eyelid (HP:0011226) help
..expandBlepharitis (HP:0000498) help
..expandBlepharospasm (HP:0000643) help
..expandDermatochalasis (HP:0010750) help
..expandEctropion (HP:0000656) help
..expandEntropion (HP:0000621) help
..expandEpiblepharon (HP:0011225) help
..expandEpicanthus (HP:0000286) help
..expandErythema of the eyelids (HP:0040323) help
..expandEuryblepharon (HP:0012905) help
..expandEyelid apraxia (HP:0000658) help
..expandEyelid retraction (HP:0500043) help
..expandHeliotrope rash of eyelid (HP:0030845) help
..expandHooded eyelid (HP:0030820) help
..expandHyperpigmentation of eyelids (HP:0007406) help
..expandLagophthalmos (HP:0030001) help
..expandLipomas of eyelids (HP:0040164) help
..expandMicroblepharia (HP:0430010) help
..expandNodular changes affecting the eyelids (HP:0010732) help
..expandPalpebral edema (HP:0100540) help
..expandPalpebral thickening (HP:0030939) help
..expandSymblepharon (HP:0430007) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000506HP:0000506Telecanthus0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent72
HP:0000506HP:0000506Telecanthus0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent123
HP:0000506HP:0000506Telecanthus0ACTG1 CL E G H71144OMIM:614583Baraitser-Winter syndrome 2.123
HP:0000506HP:0000506Telecanthus0ADAMTS18 CL E G H17069217110OMIM:615458Microcornea, myopic chorioretinal atrophy, and telecanthus.8
HP:0000506HP:0000506Telecanthus0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040283 - Occasional9
HP:0000506HP:0000506Telecanthus0ADAT3 CL E G H11317925151OMIM:615286Mental retardation, autosomal recessive 36.9
HP:0000506HP:0000506Telecanthus0ADH5 CL E G H128253OMIM:619151AMED SYNDROME, DIGENIC; AMEDS
HP:0000506HP:0000506Telecanthus0AKT3 CL E G H10000393ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndromeHP:0040282 - Frequent19
HP:0000506HP:0000506Telecanthus0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0000506HP:0000506Telecanthus0ALG9 CL E G H7979615672OMIM:263210Gillessen-Kaesbach-Nishimura syndrome93
HP:0000506HP:0000506Telecanthus0ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2132
HP:0000506HP:0000506Telecanthus0ALX4 CL E G H60529450ORPHA:228390Frontonasal dysplasia-alopecia-genital anomalies syndromeHP:0040281 - Very frequent132
HP:0000506HP:0000506Telecanthus0ANKH CL E G H5617215492ORPHA:1522Craniometaphyseal dysplasiaHP:0040282 - Frequent164
HP:0000506HP:0000506Telecanthus0ANKLE2 CL E G H2314129101OMIM:616681Microcephaly 16, primary, autosomal recessive.3
HP:0000506HP:0000506Telecanthus0ANKRD11 CL E G H2912321316ORPHA:2332KBG syndromeHP:0040282 - Frequent102
HP:0000506HP:0000506Telecanthus0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome.102
HP:0000506HP:0000506Telecanthus0ARL3 CL E G H403694OMIM:618161JOUBERT SYNDROME 35; JBTS351
HP:0000506HP:0000506Telecanthus0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent1
HP:0000506HP:0000506Telecanthus0ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional5
HP:0000506HP:0000506Telecanthus0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndromeHP:0040282 - Frequent169
HP:0000506HP:0000506Telecanthus0B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent29
HP:0000506HP:0000506Telecanthus0C12ORF57 CL E G H11324629521ORPHA:1777Temtamy syndromeHP:0040283 - Occasional13
HP:0000506HP:0000506Telecanthus0C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 14HP:0040282 - Frequent27
HP:0000506HP:0000506Telecanthus0C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV.27
HP:0000506HP:0000506Telecanthus0CCND2 CL E G H8941583ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndromeHP:0040282 - Frequent11
HP:0000506HP:0000506Telecanthus0CCNQ CL E G H9200228434ORPHA:140952Syndactyly-telecanthus-anogenital and renal malformations syndromeHP:0040282 - Frequent7
HP:0000506HP:0000506Telecanthus0CCNQ CL E G H9200228434OMIM:300707Toe syndactyly, telecanthus, and anogenital and renal malformationsHP:0040283 - Occasional7
HP:0000506HP:0000506Telecanthus0CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndromeHP:0040281 - Very frequent2
HP:0000506HP:0000506Telecanthus0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000506HP:0000506Telecanthus0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0000506HP:0000506Telecanthus0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0000506HP:0000506Telecanthus0CHRNG CL E G H11461967ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040282 - Frequent68
HP:0000506HP:0000506Telecanthus0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.27
HP:0000506HP:0000506Telecanthus0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0000506HP:0000506Telecanthus0COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0000506HP:0000506Telecanthus0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040281 - Very frequent749
HP:0000506HP:0000506Telecanthus0COLEC10 CL E G H105842220ORPHA:2938433MC syndromeHP:0040282 - Frequent3
HP:0000506HP:0000506Telecanthus0COLEC11 CL E G H7898917213ORPHA:2938433MC syndromeHP:0040282 - Frequent9
HP:0000506HP:0000506Telecanthus0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent6
HP:0000506HP:0000506Telecanthus0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0000506HP:0000506Telecanthus0CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies.4
HP:0000506HP:0000506Telecanthus0DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000506HP:0000506Telecanthus0DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive.29
HP:0000506HP:0000506Telecanthus0DOCK7 CL E G H8544019190ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndromeHP:0040282 - Frequent11
HP:0000506HP:0000506Telecanthus0DOCK7 CL E G H8544019190OMIM:615859Epileptic encephalopathy, early infantile, 23.11
HP:0000506HP:0000506Telecanthus0DSE CL E G H2994021144OMIM:615539Ehlers-Danlos syndrome, musculocontractural type, 2.13
HP:0000506HP:0000506Telecanthus0DVL3 CL E G H18573087OMIM:616894ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS35
HP:0000506HP:0000506Telecanthus0EBP CL E G H106823133ORPHA:401973MEND syndromeHP:0040282 - Frequent51
HP:0000506HP:0000506Telecanthus0EDN3 CL E G H19083178ORPHA:897Waardenburg-Shah syndromeHP:0040283 - Occasional67
HP:0000506HP:0000506Telecanthus0EDNRB CL E G H19103180ORPHA:895Waardenburg syndrome type 2HP:0040283 - Occasional55
HP:0000506HP:0000506Telecanthus0EDNRB CL E G H19103180ORPHA:897Waardenburg-Shah syndromeHP:0040283 - Occasional55
HP:0000506HP:0000506Telecanthus0EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome.27
HP:0000506HP:0000506Telecanthus0EFTUD2 CL E G H934330858OMIM:610536Mandibulofacial dysostosis, Guion-Almeida type.48
HP:0000506HP:0000506Telecanthus0EFTUD2 CL E G H934330858ORPHA:79113Mandibulofacial dysostosis-microcephaly syndromeHP:0040282 - Frequent48
HP:0000506HP:0000506Telecanthus0ETFA CL E G H21083481OMIM:231680Multiple acyl-coa dehydrogenase deficiency.37
HP:0000506HP:0000506Telecanthus0ETFB CL E G H21093482OMIM:231680Multiple acyl-coa dehydrogenase deficiency.27
HP:0000506HP:0000506Telecanthus0ETFDH CL E G H21103483OMIM:231680Multiple acyl-coa dehydrogenase deficiency.77
HP:0000506HP:0000506Telecanthus0EXOSC1 CL E G H5101317286OMIM:619304PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0000506HP:0000506Telecanthus0FBN1 CL E G H22003603ORPHA:2462Shprintzen-Goldberg syndromeHP:0040281 - Very frequent1361
HP:0000506HP:0000506Telecanthus0FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome.17
HP:0000506HP:0000506Telecanthus0FGFR1 CL E G H22603688ORPHA:2117Hartsfield syndromeHP:0040281 - Very frequent172
HP:0000506HP:0000506Telecanthus0FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome.175
HP:0000506HP:0000506Telecanthus0FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome.145
HP:0000506HP:0000506Telecanthus0FLNA CL E G H23163754OMIM:300244Terminal osseous dysplasia.493
HP:0000506HP:0000506Telecanthus0FLNB CL E G H23173755ORPHA:1190Atelosteogenesis type IHP:0040283 - Occasional233
HP:0000506HP:0000506Telecanthus0FOXC1 CL E G H22963800ORPHA:782Axenfeld-Rieger syndromeHP:0040283 - Occasional63
HP:0000506HP:0000506Telecanthus0FOXL2 CL E G H6681092OMIM:110100Blepharophimosis, epicanthus inversus, and ptosis.92
HP:0000506HP:0000506Telecanthus0FOXL2 CL E G H6681092ORPHA:572333Blepharophimosis-ptosis-epicanthus inversus syndrome plusHP:0040281 - Very frequent92
HP:0000506HP:0000506Telecanthus0GJA1 CL E G H26974274ORPHA:1522Craniometaphyseal dysplasiaHP:0040282 - Frequent68
HP:0000506HP:0000506Telecanthus0GJA1 CL E G H26974274OMIM:218400Craniometaphyseal dysplasia, autosomal recessive.68
HP:0000506HP:0000506Telecanthus0GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive.68
HP:0000506HP:0000506Telecanthus0GLI3 CL E G H27374319ORPHA:380Greig cephalopolysyndactyly syndromeHP:0040282 - Frequent270
HP:0000506HP:0000506Telecanthus0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000506HP:0000506Telecanthus0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent8
HP:0000506HP:0000506Telecanthus0GPRASP2 CL E G H11492825169OMIM:301018Deafness, X-linked 7.
HP:0000506HP:0000506Telecanthus0GRIA1 CL E G H28904571OMIM:6199273
HP:0000506HP:0000506Telecanthus0H1-4 CL E G H30084718OMIM:617537Rahman syndrome.
HP:0000506HP:0000506Telecanthus0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 5.37
HP:0000506HP:0000506Telecanthus0HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language.11
HP:0000506HP:0000506Telecanthus0HHAT CL E G H5573318270ORPHA:1422Chondrodysplasia-disorder of sex development syndromeHP:0040281 - Very frequent
HP:0000506HP:0000506Telecanthus0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent3
HP:0000506HP:0000506Telecanthus0HNRNPR CL E G H102365047OMIM:620073
HP:0000506HP:0000506Telecanthus0HNRNPU CL E G H31925048ORPHA:2387691q44 microdeletion syndromeHP:0040282 - Frequent39
HP:0000506HP:0000506Telecanthus0HRAS CL E G H32655173ORPHA:2612Linear nevus sebaceus syndromeHP:0040281 - Very frequent113
HP:0000506HP:0000506Telecanthus0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0000506HP:0000506Telecanthus0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia.93
HP:0000506HP:0000506Telecanthus0IFT43 CL E G H11275229669OMIM:614099Cranioectodermal dysplasia 3HP:0040283 - Occasional11
HP:0000506HP:0000506Telecanthus0IFT52 CL E G H5109815901OMIM:617102Short-Rib thoracic dysplasia 16 with or without polydactyly.4
HP:0000506HP:0000506Telecanthus0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0000506HP:0000506Telecanthus0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent2
HP:0000506HP:0000506Telecanthus0KAT8 CL E G H8414817933OMIM:618974LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000506HP:0000506Telecanthus0KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional13
HP:0000506HP:0000506Telecanthus0KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional7
HP:0000506HP:0000506Telecanthus0KCTD1 CL E G H28425218249ORPHA:2036Scalp-ear-nipple syndromeHP:0040282 - Frequent11
HP:0000506HP:0000506Telecanthus0KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.9
HP:0000506HP:0000506Telecanthus0KIFBP CL E G H2612823419OMIM:609460Goldberg-Shprintzen syndrome.
HP:0000506HP:0000506Telecanthus0KITLG CL E G H42546343OMIM:6199479
HP:0000506HP:0000506Telecanthus0KITLG CL E G H42546343ORPHA:895Waardenburg syndrome type 2HP:0040283 - Occasional9
HP:0000506HP:0000506Telecanthus0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040283 - Occasional91
HP:0000506HP:0000506Telecanthus0KRAS CL E G H38456407ORPHA:2612Linear nevus sebaceus syndromeHP:0040281 - Very frequent196
HP:0000506HP:0000506Telecanthus0KRAS CL E G H38456407ORPHA:3339Toriello-Lacassie-Droste syndromeHP:0040282 - Frequent196
HP:0000506HP:0000506Telecanthus0LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040281 - Very frequent88
HP:0000506HP:0000506Telecanthus0LIG4 CL E G H39816601ORPHA:99812LIG4 syndromeHP:0040282 - Frequent88
HP:0000506HP:0000506Telecanthus0LMNA CL E G H40006636ORPHA:1662Restrictive dermopathyHP:0040281 - Very frequent645
HP:0000506HP:0000506Telecanthus0LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040282 - Frequent165
HP:0000506HP:0000506Telecanthus0MAFB CL E G H99356408ORPHA:2774Multicentric carpo-tarsal osteolysis with or without nephropathyHP:0040283 - Occasional63
HP:0000506HP:0000506Telecanthus0MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4.178
HP:0000506HP:0000506Telecanthus0MAP3K7 CL E G H68856859OMIM:157800Cardiospondylocarpofacial syndrome.11
HP:0000506HP:0000506Telecanthus0MASP1 CL E G H56486901ORPHA:2938433MC syndromeHP:0040282 - Frequent21
HP:0000506HP:0000506Telecanthus0MID1 CL E G H42817095ORPHA:2745Opitz GBBB syndromeHP:0040282 - Frequent57
HP:0000506HP:0000506Telecanthus0MID1 CL E G H42817095OMIM:300000Opitz gbbb syndrome, type I.57
HP:0000506HP:0000506Telecanthus0MITF CL E G H42867105ORPHA:895Waardenburg syndrome type 2HP:0040283 - Occasional91
HP:0000506HP:0000506Telecanthus0MITF CL E G H42867105ORPHA:897Waardenburg-Shah syndromeHP:0040283 - Occasional91
HP:0000506HP:0000506Telecanthus0MSL3 CL E G H109437370OMIM:301032BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000506HP:0000506Telecanthus0MUSK CL E G H45937525OMIM:208150Fetal akinesia deformation sequence.72
HP:0000506HP:0000506Telecanthus0MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A.166
HP:0000506HP:0000506Telecanthus0MYH3 CL E G H46217573ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040282 - Frequent166
HP:0000506HP:0000506Telecanthus0MYOD1 CL E G H46547611OMIM:618975MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000506HP:0000506Telecanthus0NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2HP:0040283 - Occasional101
HP:0000506HP:0000506Telecanthus0NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndromeHP:0040282 - Frequent40
HP:0000506HP:0000506Telecanthus0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040282 - Frequent138
HP:0000506HP:0000506Telecanthus0NOTCH2 CL E G H48537882OMIM:102500Hajdu-Cheney syndrome.138
HP:0000506HP:0000506Telecanthus0NRAS CL E G H48937989ORPHA:2612Linear nevus sebaceus syndromeHP:0040281 - Very frequent102
HP:0000506HP:0000506Telecanthus0NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0000506HP:0000506Telecanthus0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040281 - Very frequent84
HP:0000506HP:0000506Telecanthus0NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 5HP:0040283 - Occasional84
HP:0000506HP:0000506Telecanthus0OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I.201
HP:0000506HP:0000506Telecanthus0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040283 - Occasional201
HP:0000506HP:0000506Telecanthus0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000506HP:0000506Telecanthus0PAX3 CL E G H50778617ORPHA:894Waardenburg syndrome type 1HP:0040281 - Very frequent59
HP:0000506HP:0000506Telecanthus0PAX3 CL E G H50778617ORPHA:896Waardenburg syndrome type 3HP:0040282 - Frequent59
HP:0000506HP:0000506Telecanthus0PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 1.59
HP:0000506HP:0000506Telecanthus0PAX3 CL E G H50778617OMIM:148820Waardenburg syndrome, type 3.59
HP:0000506HP:0000506Telecanthus0PIGQ CL E G H909114135OMIM:618548MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS43
HP:0000506HP:0000506Telecanthus0PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000506HP:0000506Telecanthus0PIK3R1 CL E G H52958979ORPHA:3163SHORT syndromeHP:0040283 - Occasional43
HP:0000506HP:0000506Telecanthus0PIK3R1 CL E G H52958979OMIM:269880Short syndrome.43
HP:0000506HP:0000506Telecanthus0PIK3R2 CL E G H52968980ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndromeHP:0040282 - Frequent12
HP:0000506HP:0000506Telecanthus0PITX2 CL E G H53089005ORPHA:782Axenfeld-Rieger syndromeHP:0040283 - Occasional51
HP:0000506HP:0000506Telecanthus0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000506HP:0000506Telecanthus0PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome28
HP:0000506HP:0000506Telecanthus0PTCH1 CL E G H57279585ORPHA:377Gorlin syndromeHP:0040283 - Occasional665
HP:0000506HP:0000506Telecanthus0PTCH2 CL E G H86439586ORPHA:377Gorlin syndromeHP:0040283 - Occasional40
HP:0000506HP:0000506Telecanthus0PTH1R CL E G H57459608ORPHA:50945Blomstrand lethal chondrodysplasiaHP:0040281 - Very frequent58
HP:0000506HP:0000506Telecanthus0PURA CL E G H58139701OMIM:616158Mental retardation, autosomal dominant 31HP:0040283 - Occasional53
HP:0000506HP:0000506Telecanthus0PURA CL E G H58139701ORPHA:438216PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutationHP:0040283 - Occasional53
HP:0000506HP:0000506Telecanthus0PURA CL E G H58139701ORPHA:314655Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletionHP:0040282 - Frequent53
HP:0000506HP:0000506Telecanthus0RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0000506HP:0000506Telecanthus0RNF125 CL E G H5494121150OMIM:616260Tenorio syndrome.5
HP:0000506HP:0000506Telecanthus0RPS6KA3 CL E G H619710432OMIM:303600Coffin-Lowry syndrome.65
HP:0000506HP:0000506Telecanthus0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent
HP:0000506HP:0000506Telecanthus0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent
HP:0000506HP:0000506Telecanthus0SKI CL E G H649710896OMIM:182212Shprintzen-Goldberg craniosynostosis syndrome.150
HP:0000506HP:0000506Telecanthus0SKI CL E G H649710896ORPHA:2462Shprintzen-Goldberg syndromeHP:0040281 - Very frequent150
HP:0000506HP:0000506Telecanthus0SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040283 - Occasional166
HP:0000506HP:0000506Telecanthus0SNAI2 CL E G H659111094ORPHA:895Waardenburg syndrome type 2HP:0040283 - Occasional19
HP:0000506HP:0000506Telecanthus0SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeHP:0040283 - Occasional14
HP:0000506HP:0000506Telecanthus0SOX10 CL E G H666311190ORPHA:163746Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung diseaseHP:0040281 - Very frequent61
HP:0000506HP:0000506Telecanthus0SOX10 CL E G H666311190ORPHA:895Waardenburg syndrome type 2HP:0040283 - Occasional61
HP:0000506HP:0000506Telecanthus0SOX10 CL E G H666311190ORPHA:897Waardenburg-Shah syndromeHP:0040283 - Occasional61
HP:0000506HP:0000506Telecanthus0SPATA5L1 CL E G H7902928762OMIM:619616NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0000506HP:0000506Telecanthus0SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0000506HP:0000506Telecanthus0STAC3 CL E G H24632928423OMIM:255995Myopathy, congenital, bailey-bloch.14
HP:0000506HP:0000506Telecanthus0STXBP1 CL E G H681211444ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040282 - Frequent237
HP:0000506HP:0000506Telecanthus0SUFU CL E G H5168416466ORPHA:377Gorlin syndromeHP:0040283 - Occasional124
HP:0000506HP:0000506Telecanthus0TAPT1 CL E G H20201826887OMIM:616897Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type2
HP:0000506HP:0000506Telecanthus0TBC1D2B CL E G H2310229183ORPHA:397973Intellectual disability-obesity-prognathism-eye and skin anomalies syndromeHP:0040283 - Occasional
HP:0000506HP:0000506Telecanthus0TBL1XR1 CL E G H7971829529ORPHA:487825Pierpont syndromeHP:0040282 - Frequent22
HP:0000506HP:0000506Telecanthus0TBL1XR1 CL E G H7971829529OMIM:602342Pierpont syndrome.22
HP:0000506HP:0000506Telecanthus0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent32
HP:0000506HP:0000506Telecanthus0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0000506HP:0000506Telecanthus0TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 57.1
HP:0000506HP:0000506Telecanthus0TWIST2 CL E G H11758120670ORPHA:1231Barber-Say syndromeHP:0040281 - Very frequent7
HP:0000506HP:0000506Telecanthus0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome.7
HP:0000506HP:0000506Telecanthus0TYR CL E G H729912442ORPHA:895Waardenburg syndrome type 2HP:0040283 - Occasional146
HP:0000506HP:0000506Telecanthus0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0000506HP:0000506Telecanthus0UBE3B CL E G H8991013478ORPHA:2707Oculocerebrofacial syndrome, Kaufman typeHP:0040282 - Frequent13
HP:0000506HP:0000506Telecanthus0UBR7 CL E G H5514820344OMIM:619189LI-CAMPEAU SYNDROME; LICAS1
HP:0000506HP:0000506Telecanthus0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent
HP:0000506HP:0000506Telecanthus0USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityHP:0040283 - Occasional27
HP:0000506HP:0000506Telecanthus0VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disordersHP:0040283 - Occasional1
HP:0000506HP:0000506Telecanthus0VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0000506HP:0000506Telecanthus0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0000506HP:0000506Telecanthus0XRCC4 CL E G H751812831ORPHA:99812LIG4 syndromeHP:0040282 - Frequent9
HP:0000506HP:0000506Telecanthus0YY1 CL E G H752812856OMIM:617557Gabriele-De vries syndrome7
HP:0000506HP:0000506Telecanthus0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040283 - Occasional7
HP:0000506HP:0000506Telecanthus0ZBTB18 CL E G H1047213030OMIM:612337Mental retardation, autosomal dominant 2216
HP:0000506HP:0000506Telecanthus0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040282 - Frequent362
HP:0000506HP:0000506Telecanthus0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040282 - Frequent362
HP:0000506HP:0000506Telecanthus0ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0000506HP:0000506Telecanthus0ZMPSTE24 CL E G H1026912877ORPHA:1662Restrictive dermopathyHP:0040281 - Very frequent83
HP:0000506HP:0000506Telecanthus0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000506HP:0000506Telecanthus0ZNF148 CL E G H770712933OMIM:617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies.4
HP:0000506HP:0000506Telecanthus0ZSWIM6 CL E G H5768829316OMIM:603671Acromelic frontonasal dysostosis.5
HP:0000506HP:0000506Telecanthus0ZSWIM6 CL E G H5768829316ORPHA:1827Acromelic frontonasal dysplasiaHP:0040281 - Very frequent5


Genes (157) :ACTB ACTG1 ADAMTS18 ADAT3 ADH5 AKT3 ALG9 ALX4 ANKH ANKLE2 ANKRD11 ARL3 ARVCF ATP6V1B2 ATRX B4GALT7 C12ORF57 C2CD3 CCND2 CCNQ CDH11 CDH2 CDK10 CDK13 CHRNG CHST14 COL18A1 COL25A1 COL3A1 COLEC10 COLEC11 COMT CREBBP CRIPT DDB1 DDHD2 DOCK7 DSE DVL3 EBP EDN3 EDNRB EFNB1 EFTUD2 ETFA ETFB ETFDH EXOSC1 FBN1 FGF10 FGFR1 FGFR2 FGFR3 FLNA FLNB FOXC1 FOXL2 GJA1 GLI3 GNB2 GP1BB GPRASP2 GRIA1 H1-4 HDAC8 HECW2 HHAT HIRA HNRNPR HNRNPU HRAS IDH1 IFT122 IFT43 IFT52 IRX5 JMJD1C KAT8 KCNH1 KCNN3 KCTD1 KDM6B KIFBP KITLG KMT2A KRAS LIG4 LMNA LMX1B MAFB MAP2K2 MAP3K7 MASP1 MID1 MITF MSL3 MUSK MYH3 MYOD1 NEK1 NFIX NOTCH2 NRAS NSD2 NSUN2 OFD1 OTUD5 PAX3 PIGQ PIGU PIK3R1 PIK3R2 PITX2 PPP1R21 PQBP1 PTCH1 PTCH2 PTH1R PURA RAB23 RNF125 RPS6KA3 RREB1 SEC24C SKI SLC26A2 SNAI2 SNX14 SOX10 SPATA5L1 SPOP STAC3 STXBP1 SUFU TAPT1 TBC1D2B TBL1XR1 TBX1 TFAP2A TLK2 TWIST2 TYR UBE3B UBR7 UFD1 USP9X VPS33A WDR35 XRCC4 YY1 ZBTB18 ZEB2 ZFHX4 ZMPSTE24 ZMYM2 ZNF148 ZSWIM6

Diseases (155) :ORPHA:2995 OMIM:614583 OMIM:615458 ORPHA:363528 OMIM:615286 OMIM:619151 ORPHA:83473 ORPHA:79328 OMIM:263210 OMIM:613451 ORPHA:228390 ORPHA:1522 OMIM:616681 ORPHA:2332 OMIM:148050 OMIM:618161 ORPHA:567 ORPHA:3473 ORPHA:847 ORPHA:75496 ORPHA:1777 ORPHA:434179 OMIM:615948 ORPHA:140952 OMIM:300707 ORPHA:1299 OMIM:618929 OMIM:617694 OMIM:617360 ORPHA:2990 OMIM:601776 OMIM:267750 ORPHA:91411 ORPHA:286 ORPHA:293843 OMIM:618332 OMIM:615789 OMIM:619426 OMIM:615033 ORPHA:411986 OMIM:615859 OMIM:615539 OMIM:616894 ORPHA:401973 ORPHA:897 ORPHA:895 OMIM:304110 OMIM:610536 ORPHA:79113 OMIM:231680 OMIM:619304 ORPHA:2462 OMIM:149730 ORPHA:2117 OMIM:300244 ORPHA:1190 ORPHA:782 OMIM:110100 ORPHA:572333 OMIM:218400 OMIM:257850 ORPHA:380 OMIM:619503 OMIM:301018 OMIM:619927 OMIM:617537 OMIM:300882 OMIM:617268 ORPHA:1422 OMIM:620073 ORPHA:238769 ORPHA:2612 ORPHA:99646 OMIM:218330 OMIM:614099 OMIM:617102 OMIM:611174 OMIM:618974 ORPHA:2036 OMIM:618505 OMIM:609460 OMIM:619947 ORPHA:319182 ORPHA:3339 ORPHA:235 ORPHA:99812 ORPHA:1662 ORPHA:495818 ORPHA:2774 OMIM:615280 OMIM:157800 ORPHA:2745 OMIM:300000 OMIM:301032 OMIM:208150 OMIM:193700 OMIM:618975 ORPHA:2751 ORPHA:447980 ORPHA:955 OMIM:102500 OMIM:619695 OMIM:611091 OMIM:311200 ORPHA:2750 OMIM:301056 ORPHA:894 ORPHA:896 OMIM:193500 OMIM:148820 OMIM:618548 OMIM:618590 ORPHA:3163 OMIM:269880 OMIM:619383 OMIM:309500 ORPHA:377 ORPHA:50945 OMIM:616158 ORPHA:438216 ORPHA:314655 OMIM:201000 OMIM:616260 OMIM:303600 OMIM:182212 ORPHA:56304 ORPHA:397709 ORPHA:163746 OMIM:619616 OMIM:618828 OMIM:255995 OMIM:616897 ORPHA:397973 ORPHA:487825 OMIM:602342 OMIM:113620 OMIM:618050 ORPHA:1231 OMIM:209885 OMIM:244450 ORPHA:2707 OMIM:619189 ORPHA:480880 ORPHA:505248 OMIM:617303 OMIM:613610 OMIM:617557 ORPHA:506358 OMIM:612337 ORPHA:261552 ORPHA:261537 OMIM:619522 OMIM:617260 OMIM:603671 ORPHA:1827
 

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