Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the orbital region (HP:0000315)help
Grandparent Node:
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obsolete Abnormal globe morphology (HP:0012374)help
Parent Node:
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Abnormality of globe location (HP:0100886)help
..Starting node
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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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000316HP:0000316Hypertelorism0ABCD4 CL E G H582668OMIM:614857Methylmalonic aciduria and homocystinuria, Cblj typeHP:0040283 - Occasional53
HP:0000316HP:0000316Hypertelorism0ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency.120
HP:0000316HP:0000316Hypertelorism0ACOX1 CL E G H51119ORPHA:2971Peroxisomal acyl-CoA oxidase deficiencyHP:0040282 - Frequent120
HP:0000316HP:0000316Hypertelorism0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional96
HP:0000316HP:0000316Hypertelorism0ACTA1 CL E G H58129ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional96
HP:0000316HP:0000316Hypertelorism0ACTA2 CL E G H59130ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional94
HP:0000316HP:0000316Hypertelorism0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent72
HP:0000316HP:0000316Hypertelorism0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 172
HP:0000316HP:0000316Hypertelorism0ACTB CL E G H60132ORPHA:79107Developmental malformations-deafness-dystonia syndromeHP:0040281 - Very frequent72
HP:0000316HP:0000316Hypertelorism0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent123
HP:0000316HP:0000316Hypertelorism0ACTG1 CL E G H71144OMIM:614583Baraitser-Winter syndrome 2123
HP:0000316HP:0000316Hypertelorism0ACTL6B CL E G H51412160OMIM:618470Intellectual developmental disorder with severe speech and ambulation defects.2
HP:0000316HP:0000316Hypertelorism0ACY1 CL E G H95177OMIM:609924Aminoacylase 1 deficiency.13
HP:0000316HP:0000316Hypertelorism0ACY1 CL E G H95177ORPHA:137754Neurological conditions associated with aminoacylase 1 deficiencyHP:0040284 - Very rare13
HP:0000316HP:0000316Hypertelorism0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0000316HP:0000316Hypertelorism0ADAMTS3 CL E G H9508219OMIM:618154Hennekam lymphangiectasia-lymphedema syndrome 3.1
HP:0000316HP:0000316Hypertelorism0ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndromeHP:0040281 - Very frequent1
HP:0000316HP:0000316Hypertelorism0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040283 - Occasional9
HP:0000316HP:0000316Hypertelorism0ADGRG6 CL E G H5721113841OMIM:616503Lethal congenital contracture syndrome 9.5
HP:0000316HP:0000316Hypertelorism0ADK CL E G H132257OMIM:614300Hypermethioninemia due to adenosine kinase deficiency.26
HP:0000316HP:0000316Hypertelorism0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0000316HP:0000316Hypertelorism0AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome.6
HP:0000316HP:0000316Hypertelorism0AGA CL E G H175318ORPHA:93AspartylglucosaminuriaHP:0040281 - Very frequent76
HP:0000316HP:0000316Hypertelorism0AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndromeHP:0040283 - Occasional36
HP:0000316HP:0000316Hypertelorism0AHDC1 CL E G H2724525230OMIM:615829Xia-Gibbs syndrome.36
HP:0000316HP:0000316Hypertelorism0AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration.60
HP:0000316HP:0000316Hypertelorism0AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040282 - Frequent54
HP:0000316HP:0000316Hypertelorism0AKT3 CL E G H10000393ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndromeHP:0040282 - Frequent19
HP:0000316HP:0000316Hypertelorism0ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA.89
HP:0000316HP:0000316Hypertelorism0ALDH6A1 CL E G H43297179OMIM:614105Methylmalonate semialdehyde dehydrogenase deficiency.35
HP:0000316HP:0000316Hypertelorism0ALG1 CL E G H5605218294OMIM:608540Congenital disorder of glycosylation, type Ik.58
HP:0000316HP:0000316Hypertelorism0ALG13 CL E G H7986830881ORPHA:324422ALG13-CDGHP:0040283 - Occasional96
HP:0000316HP:0000316Hypertelorism0ALG13 CL E G H7986830881OMIM:300884Epileptic encephalopathy, early infantile, 36.96
HP:0000316HP:0000316Hypertelorism0ALG6 CL E G H2992923157ORPHA:79320ALG6-CDGHP:0040283 - Occasional66
HP:0000316HP:0000316Hypertelorism0ALG8 CL E G H7905323161ORPHA:79325ALG8-CDGHP:0040283 - Occasional46
HP:0000316HP:0000316Hypertelorism0ALG8 CL E G H7905323161OMIM:608104Congenital disorder of glycosylation, type Ih.46
HP:0000316HP:0000316Hypertelorism0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0000316HP:0000316Hypertelorism0ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il.93
HP:0000316HP:0000316Hypertelorism0ALG9 CL E G H7979615672OMIM:263210Gillessen-Kaesbach-Nishimura syndrome93
HP:0000316HP:0000316Hypertelorism0ALX1 CL E G H80921494OMIM:613456Frontonasal dysplasia 3.5
HP:0000316HP:0000316Hypertelorism0ALX1 CL E G H80921494ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndromeHP:0040282 - Frequent5
HP:0000316HP:0000316Hypertelorism0ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 1.9
HP:0000316HP:0000316Hypertelorism0ALX3 CL E G H257449ORPHA:391474FrontorhinyHP:0040282 - Frequent9
HP:0000316HP:0000316Hypertelorism0ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2.132
HP:0000316HP:0000316Hypertelorism0ALX4 CL E G H60529450ORPHA:228390Frontonasal dysplasia-alopecia-genital anomalies syndromeHP:0040281 - Very frequent132
HP:0000316HP:0000316Hypertelorism0ALX4 CL E G H60529450OMIM:609597Parietal foramina 2HP:0040283 - Occasional132
HP:0000316HP:0000316Hypertelorism0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis.34
HP:0000316HP:0000316Hypertelorism0ANAPC7 CL E G H5143417380OMIM:619699FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0000316HP:0000316Hypertelorism0ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndromeHP:0040283 - Occasional150
HP:0000316HP:0000316Hypertelorism0ANKH CL E G H5617215492ORPHA:1522Craniometaphyseal dysplasiaHP:0040281 - Very frequent164
HP:0000316HP:0000316Hypertelorism0ANKH CL E G H5617215492OMIM:123000Craniometaphyseal dysplasia, autosomal dominant.164
HP:0000316HP:0000316Hypertelorism0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome.102
HP:0000316HP:0000316Hypertelorism0ANKRD11 CL E G H2912321316ORPHA:2332KBG syndromeHP:0040282 - Frequent102
HP:0000316HP:0000316Hypertelorism0ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndromeHP:0040281 - Very frequent8
HP:0000316HP:0000316Hypertelorism0ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome.8
HP:0000316HP:0000316Hypertelorism0AP1G1 CL E G H164555OMIM:619548USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0000316HP:0000316Hypertelorism0AP4S1 CL E G H11154575OMIM:614067Spastic paraplegia 52, autosomal recessive.18
HP:0000316HP:0000316Hypertelorism0APC CL E G H324583ORPHA:3258Cenani-Lenz syndromeHP:0040282 - Frequent3179
HP:0000316HP:0000316Hypertelorism0APC CL E G H324583ORPHA:261584Familial adenomatous polyposis due to 5q22.2 microdeletionHP:0040282 - Frequent3179
HP:0000316HP:0000316Hypertelorism0ARID1B CL E G H5749218040ORPHA:2510566q25 microdeletion syndromeHP:0040282 - Frequent219
HP:0000316HP:0000316Hypertelorism0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0000316HP:0000316Hypertelorism0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0000316HP:0000316Hypertelorism0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0000316HP:0000316Hypertelorism0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040283 - Occasional145
HP:0000316HP:0000316Hypertelorism0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome.145
HP:0000316HP:0000316Hypertelorism0ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome.7
HP:0000316HP:0000316Hypertelorism0ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndromeHP:0040283 - Occasional49
HP:0000316HP:0000316Hypertelorism0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000316HP:0000316Hypertelorism0ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent140
HP:0000316HP:0000316Hypertelorism0ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome.140
HP:0000316HP:0000316Hypertelorism0ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndromeHP:0040281 - Very frequent140
HP:0000316HP:0000316Hypertelorism0ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent3
HP:0000316HP:0000316Hypertelorism0ATP6V1A CL E G H523851OMIM:617403Cutis laxa, autosomal recessive, type IID.3
HP:0000316HP:0000316Hypertelorism0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040282 - Frequent5
HP:0000316HP:0000316Hypertelorism0ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional5
HP:0000316HP:0000316Hypertelorism0ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent2
HP:0000316HP:0000316Hypertelorism0ATP6V1E1 CL E G H529857OMIM:617402Cutis laxa, autosomal recessive, type IIC.2
HP:0000316HP:0000316Hypertelorism0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndromeHP:0040281 - Very frequent169
HP:0000316HP:0000316Hypertelorism0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked.169
HP:0000316HP:0000316Hypertelorism0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0000316HP:0000316Hypertelorism0AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiencyHP:0040282 - Frequent61
HP:0000316HP:0000316Hypertelorism0AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 26.61
HP:0000316HP:0000316Hypertelorism0AVP CL E G H551894OMIM:125700Diabetes insipidus, Neurohypophyseal type.22
HP:0000316HP:0000316Hypertelorism0B3GALT6 CL E G H12679217978ORPHA:2725Eye defects-arachnodactyly-cardiopathy syndromeHP:0040281 - Very frequent38
HP:0000316HP:0000316Hypertelorism0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.5
HP:0000316HP:0000316Hypertelorism0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040282 - Frequent36
HP:0000316HP:0000316Hypertelorism0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0000316HP:0000316Hypertelorism0B4GALT1 CL E G H2683924ORPHA:79332B4GALT1-CDG85
HP:0000316HP:0000316Hypertelorism0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0000316HP:0000316Hypertelorism0B9D1 CL E G H2707724123ORPHA:564Meckel syndromeHP:0040282 - Frequent28
HP:0000316HP:0000316Hypertelorism0B9D2 CL E G H8077628636ORPHA:564Meckel syndromeHP:0040282 - Frequent34
HP:0000316HP:0000316Hypertelorism0BBS7 CL E G H5521218758OMIM:615984BARDET-BIEDL SYNDROME 7; BBS766
HP:0000316HP:0000316Hypertelorism0BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0000316HP:0000316Hypertelorism0BCL11B CL E G H6491913222OMIM:617237Immunodeficiency 49.3
HP:0000316HP:0000316Hypertelorism0BCL11B CL E G H6491913222OMIM:618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES.3
HP:0000316HP:0000316Hypertelorism0BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome.17
HP:0000316HP:0000316Hypertelorism0BGN CL E G H6331044OMIM:300989Meester-Loeys syndrome.7
HP:0000316HP:0000316Hypertelorism0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0000316HP:0000316Hypertelorism0BLNK CL E G H2976014211ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional4
HP:0000316HP:0000316Hypertelorism0BLTP1 CL E G H8416226953OMIM:617822Alkuraya-Kucinskas syndrome.
HP:0000316HP:0000316Hypertelorism0BMP2 CL E G H6501069ORPHA:26129520p12.3 microdeletion syndromeHP:0040281 - Very frequent13
HP:0000316HP:0000316Hypertelorism0BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS.78
HP:0000316HP:0000316Hypertelorism0BMPR1A CL E G H6571076ORPHA:79076Juvenile polyposis of infancyHP:0040282 - Frequent385
HP:0000316HP:0000316Hypertelorism0BNC2 CL E G H5479630988ORPHA:93110Posterior urethral valveHP:0040284 - Very rare22
HP:0000316HP:0000316Hypertelorism0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0000316HP:0000316Hypertelorism0BPTF CL E G H21863581OMIM:617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL2
HP:0000316HP:0000316Hypertelorism0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent276
HP:0000316HP:0000316Hypertelorism0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0000316HP:0000316Hypertelorism0BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0000316HP:0000316Hypertelorism0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0000316HP:0000316Hypertelorism0BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0000316HP:0000316Hypertelorism0BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentiginesHP:0040281 - Very frequent276
HP:0000316HP:0000316Hypertelorism0BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0000316HP:0000316Hypertelorism0BRCA1 CL E G H6721100OMIM:617883Fanconi anemia, complementation group S.5769
HP:0000316HP:0000316Hypertelorism0BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0000316HP:0000316Hypertelorism0BRCC3 CL E G H7918424185ORPHA:280679Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndromeHP:0040282 - Frequent8
HP:0000316HP:0000316Hypertelorism0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0000316HP:0000316Hypertelorism0BRPF1 CL E G H786214255OMIM:617333Intellectual developmental disorder with dysmorphic facies and ptosis.10
HP:0000316HP:0000316Hypertelorism0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 1.76
HP:0000316HP:0000316Hypertelorism0C12ORF57 CL E G H11324629521OMIM:218340Temtamy syndrome.13
HP:0000316HP:0000316Hypertelorism0C12ORF57 CL E G H11324629521ORPHA:1777Temtamy syndromeHP:0040281 - Very frequent13
HP:0000316HP:0000316Hypertelorism0CACNA1G CL E G H89131394OMIM:618087Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits.32
HP:0000316HP:0000316Hypertelorism0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation.34
HP:0000316HP:0000316Hypertelorism0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000316HP:0000316Hypertelorism0CASK CL E G H85731497OMIM:300422FG SYNDROME 4; FGS4118
HP:0000316HP:0000316Hypertelorism0CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia118
HP:0000316HP:0000316Hypertelorism0CASK CL E G H85731497ORPHA:163937X-linked intellectual disability, Najm typeHP:0040282 - Frequent118
HP:0000316HP:0000316Hypertelorism0CBL CL E G H8671541ORPHA:648Noonan syndromeHP:0040281 - Very frequent317
HP:0000316HP:0000316Hypertelorism0CBL CL E G H8671541OMIM:613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia.317
HP:0000316HP:0000316Hypertelorism0CC2D2A CL E G H5754529253ORPHA:564Meckel syndromeHP:0040282 - Frequent247
HP:0000316HP:0000316Hypertelorism0CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome.147
HP:0000316HP:0000316Hypertelorism0CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndromeHP:0040281 - Very frequent147
HP:0000316HP:0000316Hypertelorism0CCDC22 CL E G H2895228909ORPHA:73C syndromeHP:0040281 - Very frequent33
HP:0000316HP:0000316Hypertelorism0CCDC22 CL E G H2895228909OMIM:300963Ritscher-Schinzel syndrome 2.33
HP:0000316HP:0000316Hypertelorism0CCDC32 CL E G H9041628295OMIM:619123CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS1
HP:0000316HP:0000316Hypertelorism0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome.
HP:0000316HP:0000316Hypertelorism0CCND2 CL E G H8941583ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndromeHP:0040282 - Frequent11
HP:0000316HP:0000316Hypertelorism0CCNK CL E G H88121596OMIM:618147Intellectual developmental disorder with hypertelorism and distinctive facies.3
HP:0000316HP:0000316Hypertelorism0CD79A CL E G H9731698ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional9
HP:0000316HP:0000316Hypertelorism0CD79B CL E G H9741699ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional6
HP:0000316HP:0000316Hypertelorism0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0000316HP:0000316Hypertelorism0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome.6
HP:0000316HP:0000316Hypertelorism0CDC42BPB CL E G H95781738OMIM:619841
HP:0000316HP:0000316Hypertelorism0CDCA7 CL E G H8387914628ORPHA:2268ICF syndromeHP:0040283 - Occasional4
HP:0000316HP:0000316Hypertelorism0CDCA7 CL E G H8387914628OMIM:616910Immunodeficiency-Centromeric instability-facial anomalies syndrome 34
HP:0000316HP:0000316Hypertelorism0CDH1 CL E G H9991748ORPHA:1997Blepharo-cheilo-odontic syndromeHP:0040282 - Frequent1003
HP:0000316HP:0000316Hypertelorism0CDH1 CL E G H9991748OMIM:119580Blepharocheilodontic syndrome 1.1003
HP:0000316HP:0000316Hypertelorism0CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndromeHP:0040281 - Very frequent2
HP:0000316HP:0000316Hypertelorism0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome.2
HP:0000316HP:0000316Hypertelorism0CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0000316HP:0000316Hypertelorism0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000316HP:0000316Hypertelorism0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome.2
HP:0000316HP:0000316Hypertelorism0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder.8
HP:0000316HP:0000316Hypertelorism0CDK19 CL E G H2309719338OMIM:618916DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0000316HP:0000316Hypertelorism0CENPF CL E G H10631857OMIM:243605Stromme syndrome.27
HP:0000316HP:0000316Hypertelorism0CENPJ CL E G H5583517272OMIM:608393Microcephaly, primary autosomal recessive, 6161
HP:0000316HP:0000316Hypertelorism0CEP120 CL E G H15324126690OMIM:616300Short-Rib thoracic dysplasia 13 with or without polydactyly.7
HP:0000316HP:0000316Hypertelorism0CEP290 CL E G H8018429021ORPHA:564Meckel syndromeHP:0040282 - Frequent342
HP:0000316HP:0000316Hypertelorism0CHD3 CL E G H11071918OMIM:618205Snijders blok-campeau syndrome.2
HP:0000316HP:0000316Hypertelorism0CHD4 CL E G H11081919OMIM:617159Sifrim-Hitz-Weiss syndrome.14
HP:0000316HP:0000316Hypertelorism0CHD7 CL E G H5563620626OMIM:214800Charge syndrome.515
HP:0000316HP:0000316Hypertelorism0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040283 - Occasional515
HP:0000316HP:0000316Hypertelorism0CHD7 CL E G H5563620626ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional515
HP:0000316HP:0000316Hypertelorism0CHD8 CL E G H5768020153OMIM:615032AUTISM, SUSCEPTIBILITY TO, 18; AUTS1872
HP:0000316HP:0000316Hypertelorism0CHRNA1 CL E G H11341955OMIM:253290Multiple pterygium syndrome, Lethal type.74
HP:0000316HP:0000316Hypertelorism0CHRNA7 CL E G H11391960OMIM:612001Chromosome 15q13.3 microdeletion syndrome52
HP:0000316HP:0000316Hypertelorism0CHRND CL E G H11441965OMIM:253290Multiple pterygium syndrome, Lethal type.88
HP:0000316HP:0000316Hypertelorism0CHRNG CL E G H11461967ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040282 - Frequent68
HP:0000316HP:0000316Hypertelorism0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant.68
HP:0000316HP:0000316Hypertelorism0CHRNG CL E G H11461967OMIM:253290Multiple pterygium syndrome, Lethal type.68
HP:0000316HP:0000316Hypertelorism0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 127
HP:0000316HP:0000316Hypertelorism0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent27
HP:0000316HP:0000316Hypertelorism0CHST3 CL E G H94691971ORPHA:263463CHST3-related skeletal dysplasiaHP:0040281 - Very frequent165
HP:0000316HP:0000316Hypertelorism0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.165
HP:0000316HP:0000316Hypertelorism0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0000316HP:0000316Hypertelorism0CHSY1 CL E G H2285617198OMIM:605282Temtamy preaxial brachydactyly syndrome16
HP:0000316HP:0000316Hypertelorism0CIT CL E G H111131985OMIM:617090Microcephaly 17, primary, autosomal recessive.15
HP:0000316HP:0000316Hypertelorism0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0000316HP:0000316Hypertelorism0CLCN6 CL E G H11852024OMIM:619173NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000316HP:0000316Hypertelorism0CLCN7 CL E G H11862025OMIM:618541Hypopigmentation, organomegaly, and delayed myelination and development102
HP:0000316HP:0000316Hypertelorism0CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000316HP:0000316Hypertelorism0CNTN1 CL E G H12722171OMIM:612540Myopathy, congenital, compton-north.40
HP:0000316HP:0000316Hypertelorism0CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0000316HP:0000316Hypertelorism0COG1 CL E G H93826545ORPHA:263508COG1-CDGHP:0040283 - Occasional52
HP:0000316HP:0000316Hypertelorism0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg.52
HP:0000316HP:0000316Hypertelorism0COL11A1 CL E G H13012186ORPHA:2021FibrochondrogenesisHP:0040283 - Occasional215
HP:0000316HP:0000316Hypertelorism0COL11A1 CL E G H13012186OMIM:154780Marshall syndrome.215
HP:0000316HP:0000316Hypertelorism0COL11A1 CL E G H13012186ORPHA:560Marshall syndromeHP:0040281 - Very frequent215
HP:0000316HP:0000316Hypertelorism0COL11A2 CL E G H13022187ORPHA:2021FibrochondrogenesisHP:0040283 - Occasional222
HP:0000316HP:0000316Hypertelorism0COL1A1 CL E G H12772197ORPHA:1899Arthrochalasia Ehlers-Danlos syndromeHP:0040282 - Frequent373
HP:0000316HP:0000316Hypertelorism0COL1A2 CL E G H12782198ORPHA:1899Arthrochalasia Ehlers-Danlos syndromeHP:0040282 - Frequent243
HP:0000316HP:0000316Hypertelorism0COL25A1 CL E G H8457018603ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional3
HP:0000316HP:0000316Hypertelorism0COL27A1 CL E G H8530122986OMIM:615155Steel syndrome.1
HP:0000316HP:0000316Hypertelorism0COL2A1 CL E G H12802200ORPHA:93346Spondyloepimetaphyseal dysplasia congenita, Strudwick typeHP:0040282 - Frequent284
HP:0000316HP:0000316Hypertelorism0COL2A1 CL E G H12802200ORPHA:94068Spondyloepiphyseal dysplasia congenitaHP:0040283 - Occasional284
HP:0000316HP:0000316Hypertelorism0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040281 - Very frequent749
HP:0000316HP:0000316Hypertelorism0COLEC10 CL E G H105842220ORPHA:2938433MC syndromeHP:0040282 - Frequent3
HP:0000316HP:0000316Hypertelorism0COLEC10 CL E G H105842220OMIM:2483403MC syndrome 33
HP:0000316HP:0000316Hypertelorism0COLEC11 CL E G H7898917213ORPHA:2938433MC syndromeHP:0040282 - Frequent9
HP:0000316HP:0000316Hypertelorism0COLEC11 CL E G H7898917213OMIM:2650503mc syndrome 2.9
HP:0000316HP:0000316Hypertelorism0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0000316HP:0000316Hypertelorism0COX7B CL E G H13492291OMIM:300887Linear skin defects with multiple congenital anomalies 2HP:0040282 - Frequent6
HP:0000316HP:0000316Hypertelorism0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0000316HP:0000316Hypertelorism0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI.
HP:0000316HP:0000316Hypertelorism0CPLX1 CL E G H108152309OMIM:617976Epileptic encephalopathy, early infantile, 63.1
HP:0000316HP:0000316Hypertelorism0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent1
HP:0000316HP:0000316Hypertelorism0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0000316HP:0000316Hypertelorism0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000316HP:0000316Hypertelorism0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040281 - Very frequent291
HP:0000316HP:0000316Hypertelorism0CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndrome.12
HP:0000316HP:0000316Hypertelorism0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional57
HP:0000316HP:0000316Hypertelorism0CSPP1 CL E G H7984826193ORPHA:564Meckel syndromeHP:0040282 - Frequent57
HP:0000316HP:0000316Hypertelorism0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent2
HP:0000316HP:0000316Hypertelorism0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000316HP:0000316Hypertelorism0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040283 - Occasional20
HP:0000316HP:0000316Hypertelorism0CTCF CL E G H1066413723OMIM:615502Mental retardation, autosomal dominant 2120
HP:0000316HP:0000316Hypertelorism0CTNND1 CL E G H15002515ORPHA:1997Blepharo-cheilo-odontic syndromeHP:0040282 - Frequent
HP:0000316HP:0000316Hypertelorism0CTNND1 CL E G H15002515OMIM:617681Blepharocheilodontic syndrome 2.
HP:0000316HP:0000316Hypertelorism0CTNND2 CL E G H15012516ORPHA:281Monosomy 5pHP:0040282 - Frequent15
HP:0000316HP:0000316Hypertelorism0CTU2 CL E G H34818028005OMIM:618142Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome.1
HP:0000316HP:0000316Hypertelorism0DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndromeHP:0040283 - Occasional27
HP:0000316HP:0000316Hypertelorism0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0000316HP:0000316Hypertelorism0DDR2 CL E G H49212731OMIM:271665Spondylometaepiphyseal dysplasia, short Limb-Hand type.45
HP:0000316HP:0000316Hypertelorism0DDX3X CL E G H16542745OMIM:300958MENTAL RETARDATION, X-LINKED 102; MRX10257
HP:0000316HP:0000316Hypertelorism0DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 5HP:0040282 - Frequent2
HP:0000316HP:0000316Hypertelorism0DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V.2
HP:0000316HP:0000316Hypertelorism0DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000316HP:0000316Hypertelorism0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent33
HP:0000316HP:0000316Hypertelorism0DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0000316HP:0000316Hypertelorism0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040283 - Occasional159
HP:0000316HP:0000316Hypertelorism0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000316HP:0000316Hypertelorism0DHX37 CL E G H5764717210OMIM:618731NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC2
HP:0000316HP:0000316Hypertelorism0DICER1 CL E G H2340517098OMIM:618272Global developmental delay, lung cysts, overgrowth, and wilms tumor.670
HP:0000316HP:0000316Hypertelorism0DLX4 CL E G H17482917OMIM:616788Orofacial cleft 151
HP:0000316HP:0000316Hypertelorism0DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 3.5
HP:0000316HP:0000316Hypertelorism0DNMT3A CL E G H17882978OMIM:615879Tatton-Brown-Rahman syndrome44
HP:0000316HP:0000316Hypertelorism0DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndromeHP:0040284 - Very rare44
HP:0000316HP:0000316Hypertelorism0DNMT3B CL E G H17892979ORPHA:2268ICF syndromeHP:0040283 - Occasional79
HP:0000316HP:0000316Hypertelorism0DNMT3B CL E G H17892979OMIM:242860Immunodeficiency-Centromeric instability-facial anomalies syndrome.79
HP:0000316HP:0000316Hypertelorism0DOCK6 CL E G H5757219189OMIM:614219Adams-Oliver syndrome 2.18
HP:0000316HP:0000316Hypertelorism0DOK7 CL E G H28548926594ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent91
HP:0000316HP:0000316Hypertelorism0DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7.
HP:0000316HP:0000316Hypertelorism0DPH1 CL E G H18013003ORPHA:459061Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndromeHP:0040283 - Occasional3
HP:0000316HP:0000316Hypertelorism0DPH1 CL E G H18013003OMIM:616901Developmental delay with short stature, dysmorphic features, and sparse hair.3
HP:0000316HP:0000316Hypertelorism0DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE.27
HP:0000316HP:0000316Hypertelorism0DPM1 CL E G H88133005ORPHA:79322DPM1-CDGHP:0040282 - Frequent27
HP:0000316HP:0000316Hypertelorism0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0000316HP:0000316Hypertelorism0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000316HP:0000316Hypertelorism0DSE CL E G H2994021144OMIM:615539Ehlers-Danlos syndrome, musculocontractural type, 2.13
HP:0000316HP:0000316Hypertelorism0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent13
HP:0000316HP:0000316Hypertelorism0DUSP6 CL E G H18483072ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional4
HP:0000316HP:0000316Hypertelorism0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040281 - Very frequent14
HP:0000316HP:0000316Hypertelorism0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 1.14
HP:0000316HP:0000316Hypertelorism0DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 214
HP:0000316HP:0000316Hypertelorism0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040281 - Very frequent5
HP:0000316HP:0000316Hypertelorism0DVL3 CL E G H18573087OMIM:616894ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS35
HP:0000316HP:0000316Hypertelorism0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0000316HP:0000316Hypertelorism0EBP CL E G H106823133ORPHA:401973MEND syndromeHP:0040282 - Frequent51
HP:0000316HP:0000316Hypertelorism0EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0000316HP:0000316Hypertelorism0EDEM3 CL E G H8026716787OMIM:619493CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000316HP:0000316Hypertelorism0EED CL E G H87263188OMIM:617561Cohen-Gibson syndrome4
HP:0000316HP:0000316Hypertelorism0EED CL E G H87263188ORPHA:3447Weaver syndromeHP:0040281 - Very frequent4
HP:0000316HP:0000316Hypertelorism0EFEMP2 CL E G H300083219OMIM:614437Cutis laxa, autosomal recessive, type IB.45
HP:0000316HP:0000316Hypertelorism0EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasiaHP:0040281 - Very frequent27
HP:0000316HP:0000316Hypertelorism0EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome.27
HP:0000316HP:0000316Hypertelorism0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0000316HP:0000316Hypertelorism0EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletionHP:0040281 - Very frequent223
HP:0000316HP:0000316Hypertelorism0EIF2AK3 CL E G H94513255OMIM:226980Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus.65
HP:0000316HP:0000316Hypertelorism0EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0000316HP:0000316Hypertelorism0ELN CL E G H20063327ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional172
HP:0000316HP:0000316Hypertelorism0EMC1 CL E G H2306528957OMIM:616875Cerebellar atrophy, visual impairment, and psychomotor retardation5
HP:0000316HP:0000316Hypertelorism0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000316HP:0000316Hypertelorism0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040281 - Very frequent250
HP:0000316HP:0000316Hypertelorism0EPB41L1 CL E G H20363378OMIM:614257MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD1129
HP:0000316HP:0000316Hypertelorism0EPG5 CL E G H5772429331ORPHA:1493Vici syndromeHP:0040283 - Occasional40
HP:0000316HP:0000316Hypertelorism0EPG5 CL E G H5772429331OMIM:242840Vici syndrome.40
HP:0000316HP:0000316Hypertelorism0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0000316HP:0000316Hypertelorism0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0000316HP:0000316Hypertelorism0ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0000316HP:0000316Hypertelorism0ERF CL E G H20773444OMIM:617180Chitayat syndrome.12
HP:0000316HP:0000316Hypertelorism0ERF CL E G H20773444OMIM:600775Craniosynostosis 4.12
HP:0000316HP:0000316Hypertelorism0ERF CL E G H20773444ORPHA:207Crouzon diseaseHP:0040282 - Frequent12
HP:0000316HP:0000316Hypertelorism0ERGIC1 CL E G H5722229205ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional
HP:0000316HP:0000316Hypertelorism0ERMARD CL E G H5578021056ORPHA:758576q terminal deletion syndromeHP:0040281 - Very frequent36
HP:0000316HP:0000316Hypertelorism0ESCO2 CL E G H15757027230OMIM:216100Cleft lip/palate with abnormal thumbs and microcephaly.92
HP:0000316HP:0000316Hypertelorism0ESCO2 CL E G H15757027230ORPHA:2319Juberg-Hayward syndromeHP:0040282 - Frequent92
HP:0000316HP:0000316Hypertelorism0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040281 - Very frequent92
HP:0000316HP:0000316Hypertelorism0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0000316HP:0000316Hypertelorism0EXOC2 CL E G H5577024968OMIM:619306NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH1
HP:0000316HP:0000316Hypertelorism0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D.
HP:0000316HP:0000316Hypertelorism0EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome.102
HP:0000316HP:0000316Hypertelorism0EXT2 CL E G H21323513ORPHA:466926Seizures-scoliosis-macrocephaly syndromeHP:0040282 - Frequent102
HP:0000316HP:0000316Hypertelorism0EXTL3 CL E G H21373518OMIM:617425Immunoskeletal dysplasia with neurodevelopmental abnormalitiesHP:0040283 - Occasional3
HP:0000316HP:0000316Hypertelorism0EZH2 CL E G H21463527OMIM:277590Weaver syndrome.81
HP:0000316HP:0000316Hypertelorism0EZH2 CL E G H21463527ORPHA:3447Weaver syndromeHP:0040281 - Very frequent81
HP:0000316HP:0000316Hypertelorism0FAM111A CL E G H6390124725ORPHA:93325Autosomal dominant Kenny-Caffey syndromeHP:0040282 - Frequent8
HP:0000316HP:0000316Hypertelorism0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0000316HP:0000316Hypertelorism0FAM20C CL E G H5697522140OMIM:259775Raine syndrome.35
HP:0000316HP:0000316Hypertelorism0FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0000316HP:0000316Hypertelorism0FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0000316HP:0000316Hypertelorism0FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0000316HP:0000316Hypertelorism0FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0000316HP:0000316Hypertelorism0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0000316HP:0000316Hypertelorism0FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0000316HP:0000316Hypertelorism0FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0000316HP:0000316Hypertelorism0FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0000316HP:0000316Hypertelorism0FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0000316HP:0000316Hypertelorism0FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0000316HP:0000316Hypertelorism0FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group LHP:0040283 - Occasional53
HP:0000316HP:0000316Hypertelorism0FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0000316HP:0000316Hypertelorism0FAR1 CL E G H8418826222ORPHA:438178Fatty acyl-CoA reductase 1 deficiencyHP:0040283 - Occasional7
HP:0000316HP:0000316Hypertelorism0FAR1 CL E G H8418826222OMIM:616154PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD7
HP:0000316HP:0000316Hypertelorism0FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndromeHP:0040283 - Occasional114
HP:0000316HP:0000316Hypertelorism0FAT4 CL E G H7963323109OMIM:616006HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2114
HP:0000316HP:0000316Hypertelorism0FAT4 CL E G H7963323109ORPHA:2136Hennekam syndromeHP:0040281 - Very frequent114
HP:0000316HP:0000316Hypertelorism0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0000316HP:0000316Hypertelorism0FBN1 CL E G H22003603ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional1361
HP:0000316HP:0000316Hypertelorism0FBN1 CL E G H22003603OMIM:614185GELEOPHYSIC DYSPLASIA 2; GPHYSD21361
HP:0000316HP:0000316Hypertelorism0FBN1 CL E G H22003603ORPHA:2462Shprintzen-Goldberg syndromeHP:0040281 - Very frequent1361
HP:0000316HP:0000316Hypertelorism0FBXO11 CL E G H8020413590OMIM:618089Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities.7
HP:0000316HP:0000316Hypertelorism0FBXO31 CL E G H7979116510OMIM:615979Mental retardation, autosomal recessive 458
HP:0000316HP:0000316Hypertelorism0FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome62
HP:0000316HP:0000316Hypertelorism0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndromeHP:0040281 - Very frequent62
HP:0000316HP:0000316Hypertelorism0FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome.17
HP:0000316HP:0000316Hypertelorism0FGF17 CL E G H88223673ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional3
HP:0000316HP:0000316Hypertelorism0FGF20 CL E G H262813677ORPHA:1848Renal agenesis, bilateralHP:0040281 - Very frequent2
HP:0000316HP:0000316Hypertelorism0FGF3 CL E G H22483681ORPHA:90024Deafness with labyrinthine aplasia, microtia, and microdontiaHP:0040283 - Occasional18
HP:0000316HP:0000316Hypertelorism0FGF8 CL E G H22533686ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional17
HP:0000316HP:0000316Hypertelorism0FGFR1 CL E G H22603688OMIM:615465Hartsfield syndrome.172
HP:0000316HP:0000316Hypertelorism0FGFR1 CL E G H22603688ORPHA:2117Hartsfield syndromeHP:0040281 - Very frequent172
HP:0000316HP:0000316Hypertelorism0FGFR1 CL E G H22603688ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional172
HP:0000316HP:0000316Hypertelorism0FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia.172
HP:0000316HP:0000316Hypertelorism0FGFR1 CL E G H22603688ORPHA:2645Osteoglosphonic dysplasiaHP:0040281 - Very frequent172
HP:0000316HP:0000316Hypertelorism0FGFR1 CL E G H22603688OMIM:101600Pfeiffer syndrome.172
HP:0000316HP:0000316Hypertelorism0FGFR1 CL E G H22603688ORPHA:93258Pfeiffer syndrome type 1HP:0040281 - Very frequent172
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H22633689OMIM:101200Apert syndrome.175
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H22633689ORPHA:87Apert syndromeHP:0040282 - Frequent175
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome175
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H22633689OMIM:614592Bent bone dysplasia syndrome.175
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H22633689ORPHA:207Crouzon diseaseHP:0040282 - Frequent175
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H22633689OMIM:123500Crouzon syndrome.175
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndromeHP:0040283 - Occasional175
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H22633689ORPHA:168624Familial scaphocephaly syndrome, McGillivray typeHP:0040281 - Very frequent175
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H22633689ORPHA:313855FGFR2-related bent bone dysplasiaHP:0040281 - Very frequent175
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H22633689ORPHA:1540Jackson-Weiss syndromeHP:0040281 - Very frequent175
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome.175
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H22633689OMIM:101600Pfeiffer syndrome.175
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H22633689ORPHA:93258Pfeiffer syndrome type 1HP:0040281 - Very frequent175
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H22633689ORPHA:93259Pfeiffer syndrome type 2HP:0040281 - Very frequent175
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H22633689ORPHA:93260Pfeiffer syndrome type 3HP:0040281 - Very frequent175
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome.175
HP:0000316HP:0000316Hypertelorism0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent175
HP:0000316HP:0000316Hypertelorism0FGFR3 CL E G H22613690OMIM:612247Crouzon syndrome with acanthosis nigricans.145
HP:0000316HP:0000316Hypertelorism0FGFR3 CL E G H22613690ORPHA:93262Crouzon syndrome-acanthosis nigricans syndromeHP:0040282 - Frequent145
HP:0000316HP:0000316Hypertelorism0FGFR3 CL E G H22613690ORPHA:35099Isolated brachycephalyHP:0040283 - Occasional145
HP:0000316HP:0000316Hypertelorism0FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome.145
HP:0000316HP:0000316Hypertelorism0FGFR3 CL E G H22613690ORPHA:53271Muenke syndromeHP:0040282 - Frequent145
HP:0000316HP:0000316Hypertelorism0FGFR3 CL E G H22613690OMIM:602849Muenke syndrome145
HP:0000316HP:0000316Hypertelorism0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent145
HP:0000316HP:0000316Hypertelorism0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0000316HP:0000316Hypertelorism0FH CL E G H22713700OMIM:606812Fumarase deficiency.301
HP:0000316HP:0000316Hypertelorism0FIBP CL E G H91583705ORPHA:500095Tall stature-intellectual disability-renal anomalies syndromeHP:0040283 - Occasional2
HP:0000316HP:0000316Hypertelorism0FIBP CL E G H91583705OMIM:617107Thauvin-Robinet-Faivre syndrome.2
HP:0000316HP:0000316Hypertelorism0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome.111
HP:0000316HP:0000316Hypertelorism0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent111
HP:0000316HP:0000316Hypertelorism0FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome332
HP:0000316HP:0000316Hypertelorism0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040282 - Frequent8
HP:0000316HP:0000316Hypertelorism0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent
HP:0000316HP:0000316Hypertelorism0FLNA CL E G H23163754OMIM:314400Cardiac valvular dysplasia, X-linkedHP:0040284 - Very rare493
HP:0000316HP:0000316Hypertelorism0FLNA CL E G H23163754ORPHA:555877FLNA-related X-linked myxomatous valvular dysplasia493
HP:0000316HP:0000316Hypertelorism0FLNA CL E G H23163754OMIM:305620Frontometaphyseal dysplasia.493
HP:0000316HP:0000316Hypertelorism0FLNA CL E G H23163754ORPHA:1826Frontometaphyseal dysplasiaHP:0040281 - Very frequent493
HP:0000316HP:0000316Hypertelorism0FLNA CL E G H23163754OMIM:300048Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked.493
HP:0000316HP:0000316Hypertelorism0FLNA CL E G H23163754ORPHA:2484Melnick-Needles syndromeHP:0040281 - Very frequent493
HP:0000316HP:0000316Hypertelorism0FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome.493
HP:0000316HP:0000316Hypertelorism0FLNA CL E G H23163754ORPHA:90650Otopalatodigital syndrome type 1HP:0040281 - Very frequent493
HP:0000316HP:0000316Hypertelorism0FLNA CL E G H23163754ORPHA:90652Otopalatodigital syndrome type 2HP:0040281 - Very frequent493
HP:0000316HP:0000316Hypertelorism0FLNA CL E G H23163754OMIM:311300Otopalatodigital syndrome, type I.493
HP:0000316HP:0000316Hypertelorism0FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II.493
HP:0000316HP:0000316Hypertelorism0FLNA CL E G H23163754OMIM:300244Terminal osseous dysplasia.493
HP:0000316HP:0000316Hypertelorism0FLNA CL E G H23163754ORPHA:88630Terminal osseous dysplasia-pigmentary defects syndrome493
HP:0000316HP:0000316Hypertelorism0FLNB CL E G H23173755ORPHA:1190Atelosteogenesis type IHP:0040283 - Occasional233
HP:0000316HP:0000316Hypertelorism0FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I233
HP:0000316HP:0000316Hypertelorism0FLNB CL E G H23173755ORPHA:503Larsen syndromeHP:0040281 - Very frequent233
HP:0000316HP:0000316Hypertelorism0FLNB CL E G H23173755OMIM:150250Larsen syndrome.233
HP:0000316HP:0000316Hypertelorism0FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome.233
HP:0000316HP:0000316Hypertelorism0FOXC1 CL E G H22963800ORPHA:782Axenfeld-Rieger syndromeHP:0040283 - Occasional63
HP:0000316HP:0000316Hypertelorism0FOXC1 CL E G H22963800OMIM:602482Axenfeld-rieger syndrome, type 3.63
HP:0000316HP:0000316Hypertelorism0FOXE3 CL E G H23013808ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional23
HP:0000316HP:0000316Hypertelorism0FOXF1 CL E G H22943809OMIM:265380Alveolar capillary dysplasia with misalignment of pulmonary veins61
HP:0000316HP:0000316Hypertelorism0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040282 - Frequent184
HP:0000316HP:0000316Hypertelorism0FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0000316HP:0000316Hypertelorism0FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome.353
HP:0000316HP:0000316Hypertelorism0FRAS1 CL E G H8014419185ORPHA:2052Fraser syndromeHP:0040282 - Frequent353
HP:0000316HP:0000316Hypertelorism0FREM1 CL E G H15832623399OMIM:248450Manitoba oculotrichoanal syndrome.198
HP:0000316HP:0000316Hypertelorism0FREM1 CL E G H15832623399ORPHA:2717Oculotrichoanal syndromeHP:0040281 - Very frequent198
HP:0000316HP:0000316Hypertelorism0FREM1 CL E G H15832623399OMIM:614485Trigonocephaly 2HP:0040283 - Occasional198
HP:0000316HP:0000316Hypertelorism0FREM2 CL E G H34164025396ORPHA:2052Fraser syndromeHP:0040282 - Frequent263
HP:0000316HP:0000316Hypertelorism0FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS.43
HP:0000316HP:0000316Hypertelorism0FZD2 CL E G H25354040ORPHA:93328Autosomal dominant omodysplasiaHP:0040282 - Frequent
HP:0000316HP:0000316Hypertelorism0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040281 - Very frequent
HP:0000316HP:0000316Hypertelorism0GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0000316HP:0000316Hypertelorism0GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000316HP:0000316Hypertelorism0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare29
HP:0000316HP:0000316Hypertelorism0GATA6 CL E G H26274174OMIM:217095Conotruncal heart malformationsHP:0040283 - Occasional37
HP:0000316HP:0000316Hypertelorism0GATAD2B CL E G H5745930778OMIM:615074Mental retardation, autosomal dominant 18.33
HP:0000316HP:0000316Hypertelorism0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeHP:0040283 - Occasional33
HP:0000316HP:0000316Hypertelorism0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal.
HP:0000316HP:0000316Hypertelorism0GFRA1 CL E G H26744243ORPHA:1848Renal agenesis, bilateralHP:0040281 - Very frequent1
HP:0000316HP:0000316Hypertelorism0GJA1 CL E G H26974274ORPHA:1522Craniometaphyseal dysplasiaHP:0040281 - Very frequent68
HP:0000316HP:0000316Hypertelorism0GJA1 CL E G H26974274OMIM:218400Craniometaphyseal dysplasia, autosomal recessive.68
HP:0000316HP:0000316Hypertelorism0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040282 - Frequent68
HP:0000316HP:0000316Hypertelorism0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0000316HP:0000316Hypertelorism0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0000316HP:0000316Hypertelorism0GK CL E G H27104289OMIM:307030Glycerol kinase deficiency.13
HP:0000316HP:0000316Hypertelorism0GLB1 CL E G H27204298OMIM:230500GM1-gangliosidosis, type I.120
HP:0000316HP:0000316Hypertelorism0GLE1 CL E G H27334315ORPHA:1486Lethal congenital contracture syndrome type 1HP:0040281 - Very frequent45
HP:0000316HP:0000316Hypertelorism0GLI3 CL E G H27374319ORPHA:36Acrocallosal syndromeHP:0040281 - Very frequent270
HP:0000316HP:0000316Hypertelorism0GLI3 CL E G H27374319ORPHA:380Greig cephalopolysyndactyly syndromeHP:0040282 - Frequent270
HP:0000316HP:0000316Hypertelorism0GLI3 CL E G H27374319OMIM:175700Greig cephalopolysyndactyly syndrome270
HP:0000316HP:0000316Hypertelorism0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040282 - Frequent270
HP:0000316HP:0000316Hypertelorism0GNE CL E G H1002023657ORPHA:3166SialuriaHP:0040281 - Very frequent173
HP:0000316HP:0000316Hypertelorism0GNE CL E G H1002023657OMIM:269921SIALURIA.173
HP:0000316HP:0000316Hypertelorism0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0000316HP:0000316Hypertelorism0GNRH1 CL E G H27964419ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional15
HP:0000316HP:0000316Hypertelorism0GNRHR CL E G H27984421ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional92
HP:0000316HP:0000316Hypertelorism0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0000316HP:0000316Hypertelorism0GON7 CL E G H8452020356OMIM:619603GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0000316HP:0000316Hypertelorism0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0000316HP:0000316Hypertelorism0GPAA1 CL E G H87334446ORPHA:529665Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndromeHP:0040282 - Frequent
HP:0000316HP:0000316Hypertelorism0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040281 - Very frequent73
HP:0000316HP:0000316Hypertelorism0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0000316HP:0000316Hypertelorism0GPC4 CL E G H22394452ORPHA:2662Keipert syndromeHP:0040281 - Very frequent
HP:0000316HP:0000316Hypertelorism0GPC4 CL E G H22394452OMIM:301026Keipert syndrome.
HP:0000316HP:0000316Hypertelorism0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040281 - Very frequent
HP:0000316HP:0000316Hypertelorism0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0000316HP:0000316Hypertelorism0GREB1L CL E G H8000031042ORPHA:1848Renal agenesis, bilateralHP:0040281 - Very frequent
HP:0000316HP:0000316Hypertelorism0GRIP1 CL E G H2342618708ORPHA:2052Fraser syndromeHP:0040282 - Frequent80
HP:0000316HP:0000316Hypertelorism0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0000316HP:0000316Hypertelorism0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000316HP:0000316Hypertelorism0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000316HP:0000316Hypertelorism0H4C11 CL E G H83634785OMIM:619759TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0000316HP:0000316Hypertelorism0H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000316HP:0000316Hypertelorism0H4C9 CL E G H82944793OMIM:619951
HP:0000316HP:0000316Hypertelorism0HACE1 CL E G H5753121033ORPHA:464282Spastic paraplegia-severe developmental delay-epilepsy syndromeHP:0040282 - Frequent10
HP:0000316HP:0000316Hypertelorism0HBA1 CL E G H30394823ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16HP:0040282 - Frequent200
HP:0000316HP:0000316Hypertelorism0HBA2 CL E G H30404824ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16HP:0040282 - Frequent88
HP:0000316HP:0000316Hypertelorism0HDAC4 CL E G H975914063OMIM:619797NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF33
HP:0000316HP:0000316Hypertelorism0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 5.37
HP:0000316HP:0000316Hypertelorism0HEATR3 CL E G H5502726087OMIM:620072
HP:0000316HP:0000316Hypertelorism0HELLS CL E G H30704861ORPHA:2268ICF syndromeHP:0040283 - Occasional6
HP:0000316HP:0000316Hypertelorism0HELLS CL E G H30704861OMIM:616911Immunodeficiency-centromeric instability-facial anomalies syndrome 4.6
HP:0000316HP:0000316Hypertelorism0HERC1 CL E G H89254867OMIM:617011Macrocephaly, dysmorphic facies, and psychomotor retardation.16
HP:0000316HP:0000316Hypertelorism0HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndromeHP:0040281 - Very frequent16
HP:0000316HP:0000316Hypertelorism0HEY2 CL E G H234934881ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional
HP:0000316HP:0000316Hypertelorism0HID1 CL E G H28398715736OMIM:619983
HP:0000316HP:0000316Hypertelorism0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0000316HP:0000316Hypertelorism0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0000316HP:0000316Hypertelorism0HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndromeHP:0040281 - Very frequent2
HP:0000316HP:0000316Hypertelorism0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0000316HP:0000316Hypertelorism0HNRNPU CL E G H31925048ORPHA:2387691q44 microdeletion syndromeHP:0040282 - Frequent39
HP:0000316HP:0000316Hypertelorism0HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000316HP:0000316Hypertelorism0HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0000316HP:0000316Hypertelorism0HRAS CL E G H32655173OMIM:137550Melanocytic nevus syndrome, congenital.113
HP:0000316HP:0000316Hypertelorism0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000316HP:0000316Hypertelorism0HS6ST1 CL E G H93945201ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional8
HP:0000316HP:0000316Hypertelorism0HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0000316HP:0000316Hypertelorism0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040283 - Occasional345
HP:0000316HP:0000316Hypertelorism0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1345
HP:0000316HP:0000316Hypertelorism0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type98
HP:0000316HP:0000316Hypertelorism0IDUA CL E G H34255391OMIM:607014Hurler syndrome115
HP:0000316HP:0000316Hypertelorism0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0000316HP:0000316Hypertelorism0IFT43 CL E G H11275229669OMIM:617866SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD1811
HP:0000316HP:0000316Hypertelorism0IGHM CL E G H35075541ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional7
HP:0000316HP:0000316Hypertelorism0IGLL1 CL E G H35435870ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional3
HP:0000316HP:0000316Hypertelorism0IL11RA CL E G H35905967OMIM:614188Craniosynostosis and dental anomaliesHP:0040283 - Occasional8
HP:0000316HP:0000316Hypertelorism0IL1RAPL1 CL E G H111415996OMIM:300143Mental retardation, X-linked 21.42
HP:0000316HP:0000316Hypertelorism0IL6ST CL E G H35726021OMIM:619750IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0000316HP:0000316Hypertelorism0INPPL1 CL E G H36366080OMIM:258480OPSISMODYSPLASIA.18
HP:0000316HP:0000316Hypertelorism0INSR CL E G H36436091ORPHA:508LeprechaunismHP:0040283 - Occasional229
HP:0000316HP:0000316Hypertelorism0INTS1 CL E G H2617324555OMIM:618571NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000316HP:0000316Hypertelorism0INTS8 CL E G H5565626048OMIM:618572NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS2
HP:0000316HP:0000316Hypertelorism0INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly
HP:0000316HP:0000316Hypertelorism0IPO8 CL E G H105269853ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent
HP:0000316HP:0000316Hypertelorism0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0000316HP:0000316Hypertelorism0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent119
HP:0000316HP:0000316Hypertelorism0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome.4
HP:0000316HP:0000316Hypertelorism0ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0000316HP:0000316Hypertelorism0ITGA3 CL E G H36756139OMIM:614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital.6
HP:0000316HP:0000316Hypertelorism0ITGA8 CL E G H85166144ORPHA:1848Renal agenesis, bilateralHP:0040281 - Very frequent4
HP:0000316HP:0000316Hypertelorism0ITGA8 CL E G H85166144OMIM:191830Renal hypodysplasia/aplasia 1.4
HP:0000316HP:0000316Hypertelorism0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0000316HP:0000316Hypertelorism0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0000316HP:0000316Hypertelorism0KAT6B CL E G H2352217582ORPHA:85201Genitopatellar syndromeHP:0040282 - Frequent141
HP:0000316HP:0000316Hypertelorism0KATNB1 CL E G H103006217ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040281 - Very frequent10
HP:0000316HP:0000316Hypertelorism0KATNIP CL E G H2324729068OMIM:616784JOUBERT SYNDROME 26; JBTS26
HP:0000316HP:0000316Hypertelorism0KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional80
HP:0000316HP:0000316Hypertelorism0KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040282 - Frequent13
HP:0000316HP:0000316Hypertelorism0KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome.13
HP:0000316HP:0000316Hypertelorism0KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional13
HP:0000316HP:0000316Hypertelorism0KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis.193
HP:0000316HP:0000316Hypertelorism0KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional193
HP:0000316HP:0000316Hypertelorism0KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional128
HP:0000316HP:0000316Hypertelorism0KCNMA1 CL E G H37786284OMIM:618729LIANG-WANG SYNDROME; LIWAS114
HP:0000316HP:0000316Hypertelorism0KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional7
HP:0000316HP:0000316Hypertelorism0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040283 - Occasional3
HP:0000316HP:0000316Hypertelorism0KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional24
HP:0000316HP:0000316Hypertelorism0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent4
HP:0000316HP:0000316Hypertelorism0KIAA0753 CL E G H985129110OMIM:617127Orofaciodigital syndrome XV.4
HP:0000316HP:0000316Hypertelorism0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040283 - Occasional
HP:0000316HP:0000316Hypertelorism0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0000316HP:0000316Hypertelorism0KIF7 CL E G H37465430497ORPHA:36Acrocallosal syndromeHP:0040281 - Very frequent167
HP:0000316HP:0000316Hypertelorism0KIF7 CL E G H37465430497OMIM:607131Al-Gazali-Bakalinova syndrome.167
HP:0000316HP:0000316Hypertelorism0KIF7 CL E G H37465430497ORPHA:166024Multiple epiphyseal dysplasia, Al-Gazali typeHP:0040281 - Very frequent167
HP:0000316HP:0000316Hypertelorism0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent167
HP:0000316HP:0000316Hypertelorism0KIFBP CL E G H2612823419ORPHA:66629Goldberg-Shprintzen megacolon syndromeHP:0040283 - Occasional
HP:0000316HP:0000316Hypertelorism0KISS1 CL E G H38146341ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional3
HP:0000316HP:0000316Hypertelorism0KISS1R CL E G H846344510ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional14
HP:0000316HP:0000316Hypertelorism0KLF13 CL E G H5162113672OMIM:612001Chromosome 15q13.3 microdeletion syndrome
HP:0000316HP:0000316Hypertelorism0KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional13
HP:0000316HP:0000316Hypertelorism0KLHL41 CL E G H1032416905ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional13
HP:0000316HP:0000316Hypertelorism0KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome.91
HP:0000316HP:0000316Hypertelorism0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040282 - Frequent91
HP:0000316HP:0000316Hypertelorism0KNL1 CL E G H5708224054OMIM:604321Microcephaly 4, primary, autosomal recessive.112
HP:0000316HP:0000316Hypertelorism0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0000316HP:0000316Hypertelorism0KNSTRN CL E G H9041730767OMIM:613328Roifman-Chitayat syndrome.1
HP:0000316HP:0000316Hypertelorism0KPTN CL E G H111336404OMIM:615637Mental retardation, autosomal recessive 4113
HP:0000316HP:0000316Hypertelorism0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent196
HP:0000316HP:0000316Hypertelorism0KRAS CL E G H38456407ORPHA:648Noonan syndromeHP:0040281 - Very frequent196
HP:0000316HP:0000316Hypertelorism0KRAS CL E G H38456407OMIM:609942Noonan syndrome 3196
HP:0000316HP:0000316Hypertelorism0KREMEN1 CL E G H8399917550OMIM:617392Ectodermal dysplasia 13, Hair/tooth typeHP:0040283 - Occasional1
HP:0000316HP:0000316Hypertelorism0LAGE3 CL E G H827026058ORPHA:2065Galloway-Mowat syndromeHP:0040283 - Occasional
HP:0000316HP:0000316Hypertelorism0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0000316HP:0000316Hypertelorism0LBR CL E G H39306518OMIM:169400Pelger-Huet anomaly70
HP:0000316HP:0000316Hypertelorism0LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndromeHP:0040281 - Very frequent68
HP:0000316HP:0000316Hypertelorism0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000316HP:0000316Hypertelorism0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent2
HP:0000316HP:0000316Hypertelorism0LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040281 - Very frequent88
HP:0000316HP:0000316Hypertelorism0LMBR1 CL E G H6432713243ORPHA:2378Laurin-Sandrow syndromeHP:0040283 - Occasional106
HP:0000316HP:0000316Hypertelorism0LMNA CL E G H40006636ORPHA:1662Restrictive dermopathyHP:0040281 - Very frequent645
HP:0000316HP:0000316Hypertelorism0LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0000316HP:0000316Hypertelorism0LOX CL E G H40156664ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional6
HP:0000316HP:0000316Hypertelorism0LRP2 CL E G H40366694OMIM:222448Donnai-Barrow syndrome289
HP:0000316HP:0000316Hypertelorism0LRP2 CL E G H40366694ORPHA:2143Donnai-Barrow syndromeHP:0040281 - Very frequent289
HP:0000316HP:0000316Hypertelorism0LRP4 CL E G H40386696OMIM:212780Cenani-Lenz syndactyly syndrome.124
HP:0000316HP:0000316Hypertelorism0LRP4 CL E G H40386696ORPHA:3258Cenani-Lenz syndromeHP:0040282 - Frequent124
HP:0000316HP:0000316Hypertelorism0LRP4 CL E G H40386696OMIM:614305Sclerosteosis 2.124
HP:0000316HP:0000316Hypertelorism0LRP5 CL E G H40416697ORPHA:178377Osteosclerosis-developmental delay-craniosynostosis syndromeHP:0040281 - Very frequent125
HP:0000316HP:0000316Hypertelorism0LRPPRC CL E G H1012815714OMIM:220111Leigh syndrome, french Canadian type.191
HP:0000316HP:0000316Hypertelorism0LRRC8A CL E G H5626219027OMIM:613506Agammaglobulinemia 5, autosomal dominant.3
HP:0000316HP:0000316Hypertelorism0LRRC8A CL E G H5626219027ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional3
HP:0000316HP:0000316Hypertelorism0LTBP4 CL E G H84256717OMIM:613177Cutis laxa, autosomal recessive, type IC.92
HP:0000316HP:0000316Hypertelorism0LZTR1 CL E G H82166742ORPHA:648Noonan syndromeHP:0040281 - Very frequent43
HP:0000316HP:0000316Hypertelorism0LZTR1 CL E G H82166742OMIM:616564Noonan syndrome 1043
HP:0000316HP:0000316Hypertelorism0LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0000316HP:0000316Hypertelorism0MACF1 CL E G H2349913664OMIM:618325Lissencephaly 9 with complex brainstem malformation2
HP:0000316HP:0000316Hypertelorism0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0000316HP:0000316Hypertelorism0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndromeHP:0040282 - Frequent21
HP:0000316HP:0000316Hypertelorism0MAF CL E G H40946776OMIM:601088Ayme-Gripp syndrome21
HP:0000316HP:0000316Hypertelorism0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDGHP:0040282 - Frequent93
HP:0000316HP:0000316Hypertelorism0MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0000316HP:0000316Hypertelorism0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040282 - Frequent136
HP:0000316HP:0000316Hypertelorism0MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000316HP:0000316Hypertelorism0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent134
HP:0000316HP:0000316Hypertelorism0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0000316HP:0000316Hypertelorism0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent178
HP:0000316HP:0000316Hypertelorism0MAP2K2 CL E G H56056842ORPHA:638Neurofibromatosis-Noonan syndromeHP:0040281 - Very frequent178
HP:0000316HP:0000316Hypertelorism0MAP3K7 CL E G H68856859OMIM:157800Cardiospondylocarpofacial syndrome.11
HP:0000316HP:0000316Hypertelorism0MAP3K7 CL E G H68856859ORPHA:1826Frontometaphyseal dysplasiaHP:0040281 - Very frequent11
HP:0000316HP:0000316Hypertelorism0MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 2.11
HP:0000316HP:0000316Hypertelorism0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0000316HP:0000316Hypertelorism0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities.
HP:0000316HP:0000316Hypertelorism0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 2HP:0040283 - Occasional4
HP:0000316HP:0000316Hypertelorism0MARS2 CL E G H9293525133OMIM:616430Combined oxidative phosphorylation deficiency 25HP:0040283 - Occasional25
HP:0000316HP:0000316Hypertelorism0MASP1 CL E G H56486901ORPHA:2938433MC syndromeHP:0040282 - Frequent21
HP:0000316HP:0000316Hypertelorism0MASP1 CL E G H56486901OMIM:2579203mc syndrome 1.21
HP:0000316HP:0000316Hypertelorism0MAT2A CL E G H41446904ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional13
HP:0000316HP:0000316Hypertelorism0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0000316HP:0000316Hypertelorism0MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15qHP:0040282 - Frequent3
HP:0000316HP:0000316Hypertelorism0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040282 - Frequent228
HP:0000316HP:0000316Hypertelorism0MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked228
HP:0000316HP:0000316Hypertelorism0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome.228
HP:0000316HP:0000316Hypertelorism0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000316HP:0000316Hypertelorism0MED13 CL E G H996922474OMIM:618009INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD614
HP:0000316HP:0000316Hypertelorism0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040283 - Occasional74
HP:0000316HP:0000316Hypertelorism0MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defects74
HP:0000316HP:0000316Hypertelorism0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040282 - Frequent43
HP:0000316HP:0000316Hypertelorism0MED25 CL E G H8185728845OMIM:616449Basel-Vanagaite-Smirin-Yosef syndrome.43
HP:0000316HP:0000316Hypertelorism0MED27 CL E G H94422377OMIM:619286NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0000316HP:0000316Hypertelorism0MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20.132
HP:0000316HP:0000316Hypertelorism0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 2.13
HP:0000316HP:0000316Hypertelorism0MFAP5 CL E G H807629673ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional11
HP:0000316HP:0000316Hypertelorism0MGAT2 CL E G H42477045ORPHA:79329MGAT2-CDGHP:0040283 - Occasional39
HP:0000316HP:0000316Hypertelorism0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0000316HP:0000316Hypertelorism0MID1 CL E G H42817095ORPHA:2745Opitz GBBB syndromeHP:0040281 - Very frequent57
HP:0000316HP:0000316Hypertelorism0MID1 CL E G H42817095OMIM:300000Opitz gbbb syndrome, type I.57
HP:0000316HP:0000316Hypertelorism0MKS1 CL E G H549037121OMIM:617121JOUBERT SYNDROME 28; JBTS28127
HP:0000316HP:0000316Hypertelorism0MKS1 CL E G H549037121ORPHA:564Meckel syndromeHP:0040282 - Frequent127
HP:0000316HP:0000316Hypertelorism0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1.127
HP:0000316HP:0000316Hypertelorism0MMP2 CL E G H43137166OMIM:259600Multicentric osteolysis, nodulosis, and arthropathy.64
HP:0000316HP:0000316Hypertelorism0MN1 CL E G H43307180OMIM:618774CEBALID SYNDROME; CEBALID1
HP:0000316HP:0000316Hypertelorism0MOCS1 CL E G H43377190OMIM:252150Molybdenum cofactor deficiency, complementation group A.96
HP:0000316HP:0000316Hypertelorism0MOCS2 CL E G H43387193OMIM:252160Molybdenum cofactor deficiency, complementation group B.26
HP:0000316HP:0000316Hypertelorism0MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0000316HP:0000316Hypertelorism0MRAS CL E G H228087227ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0000316HP:0000316Hypertelorism0MRAS CL E G H228087227OMIM:618499NOONAN SYNDROME 11; NS11
HP:0000316HP:0000316Hypertelorism0MRPS14 CL E G H6393114049OMIM:618378Combined oxidative phosphorylation deficiency 38.
HP:0000316HP:0000316Hypertelorism0MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndromeHP:0040283 - Occasional68
HP:0000316HP:0000316Hypertelorism0MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome.68
HP:0000316HP:0000316Hypertelorism0MUSK CL E G H45937525ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent72
HP:0000316HP:0000316Hypertelorism0MUSK CL E G H45937525OMIM:208150Fetal akinesia deformation sequence.72
HP:0000316HP:0000316Hypertelorism0MYH11 CL E G H46297569ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional418
HP:0000316HP:0000316Hypertelorism0MYH3 CL E G H46217573ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040282 - Frequent166
HP:0000316HP:0000316Hypertelorism0MYH3 CL E G H46217573ORPHA:2053Freeman-Sheldon syndromeHP:0040281 - Very frequent166
HP:0000316HP:0000316Hypertelorism0MYLK CL E G H46387590ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional326
HP:0000316HP:0000316Hypertelorism0MYOD1 CL E G H46547611ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent
HP:0000316HP:0000316Hypertelorism0MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional217
HP:0000316HP:0000316Hypertelorism0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0000316HP:0000316Hypertelorism0NALCN CL E G H25923219082ORPHA:2053Freeman-Sheldon syndromeHP:0040281 - Very frequent48
HP:0000316HP:0000316Hypertelorism0NARS1 CL E G H46777643OMIM:619092NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0000316HP:0000316Hypertelorism0NBAS CL E G H5159415625OMIM:614800Short stature, optic nerve atrophy, and pelger-huet anomalyHP:0040283 - Occasional25
HP:0000316HP:0000316Hypertelorism0NCDN CL E G H2315417597OMIM:619373NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0000316HP:0000316Hypertelorism0NDE1 CL E G H5482017619ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040281 - Very frequent96
HP:0000316HP:0000316Hypertelorism0NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional745
HP:0000316HP:0000316Hypertelorism0NEB CL E G H47037720ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional745
HP:0000316HP:0000316Hypertelorism0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive.745
HP:0000316HP:0000316Hypertelorism0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent
HP:0000316HP:0000316Hypertelorism0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040284 - Very rare1952
HP:0000316HP:0000316Hypertelorism0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040281 - Very frequent1952
HP:0000316HP:0000316Hypertelorism0NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I.1952
HP:0000316HP:0000316Hypertelorism0NF1 CL E G H47637765ORPHA:638Neurofibromatosis-Noonan syndromeHP:0040281 - Very frequent1952
HP:0000316HP:0000316Hypertelorism0NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome1952
HP:0000316HP:0000316Hypertelorism0NF1 CL E G H47637765OMIM:193520Watson syndrome1952
HP:0000316HP:0000316Hypertelorism0NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction.
HP:0000316HP:0000316Hypertelorism0NFIX CL E G H47847788ORPHA:561Marshall-Smith syndromeHP:0040282 - Frequent40
HP:0000316HP:0000316Hypertelorism0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0000316HP:0000316Hypertelorism0NKX2-5 CL E G H14822488OMIM:217095Conotruncal heart malformationsHP:0040283 - Occasional90
HP:0000316HP:0000316Hypertelorism0NKX2-6 CL E G H13781432940OMIM:217095Conotruncal heart malformationsHP:0040283 - Occasional3
HP:0000316HP:0000316Hypertelorism0NKX3-2 CL E G H579951OMIM:613330Spondylo-Megaepiphyseal-Metaphyseal dysplasia.10
HP:0000316HP:0000316Hypertelorism0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040283 - Occasional10
HP:0000316HP:0000316Hypertelorism0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040281 - Very frequent138
HP:0000316HP:0000316Hypertelorism0NOTCH3 CL E G H48547883ORPHA:2789Lateral meningocele syndromeHP:0040283 - Occasional144
HP:0000316HP:0000316Hypertelorism0NOTCH3 CL E G H48547883OMIM:130720Lateral meningocele syndrome.144
HP:0000316HP:0000316Hypertelorism0NRAS CL E G H48937989OMIM:137550Melanocytic nevus syndrome, congenital.102
HP:0000316HP:0000316Hypertelorism0NRAS CL E G H48937989ORPHA:648Noonan syndromeHP:0040281 - Very frequent102
HP:0000316HP:0000316Hypertelorism0NRAS CL E G H48937989OMIM:613224Noonan syndrome 6102
HP:0000316HP:0000316Hypertelorism0NRCAM CL E G H48977994OMIM:6198332
HP:0000316HP:0000316Hypertelorism0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0000316HP:0000316Hypertelorism0NSD1 CL E G H6432414234ORPHA:3447Weaver syndromeHP:0040281 - Very frequent544
HP:0000316HP:0000316Hypertelorism0NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0000316HP:0000316Hypertelorism0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0000316HP:0000316Hypertelorism0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent118
HP:0000316HP:0000316Hypertelorism0NSMCE3 CL E G H561607677OMIM:617241LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS2
HP:0000316HP:0000316Hypertelorism0NSMF CL E G H2601229843ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional6
HP:0000316HP:0000316Hypertelorism0NSRP1 CL E G H8408125305OMIM:620001
HP:0000316HP:0000316Hypertelorism0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040281 - Very frequent84
HP:0000316HP:0000316Hypertelorism0NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 5HP:0040283 - Occasional84
HP:0000316HP:0000316Hypertelorism0NUP107 CL E G H5712229914ORPHA:2065Galloway-Mowat syndromeHP:0040283 - Occasional5
HP:0000316HP:0000316Hypertelorism0NUP133 CL E G H5574618016ORPHA:2065Galloway-Mowat syndromeHP:0040283 - Occasional1
HP:0000316HP:0000316Hypertelorism0NUP88 CL E G H49278067ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent
HP:0000316HP:0000316Hypertelorism0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040281 - Very frequent2
HP:0000316HP:0000316Hypertelorism0NXN CL E G H6435918008OMIM:618529Robinow syndrome, autosomal recessive 2.2
HP:0000316HP:0000316Hypertelorism0ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0000316HP:0000316Hypertelorism0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040282 - Frequent1
HP:0000316HP:0000316Hypertelorism0OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I.201
HP:0000316HP:0000316Hypertelorism0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040281 - Very frequent201
HP:0000316HP:0000316Hypertelorism0OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent201
HP:0000316HP:0000316Hypertelorism0OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2.201
HP:0000316HP:0000316Hypertelorism0OGT CL E G H84738127OMIM:300997Mental retardation, X-linked 1064
HP:0000316HP:0000316Hypertelorism0OSGEP CL E G H5564418028ORPHA:2065Galloway-Mowat syndromeHP:0040283 - Occasional
HP:0000316HP:0000316Hypertelorism0OSGEP CL E G H5564418028OMIM:617729Galloway-Mowat syndrome 3.
HP:0000316HP:0000316Hypertelorism0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000316HP:0000316Hypertelorism0PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndromeHP:0040282 - Frequent24
HP:0000316HP:0000316Hypertelorism0PACS1 CL E G H5569030032OMIM:615009Schuurs-Hoeijmakers syndrome24
HP:0000316HP:0000316Hypertelorism0PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66.
HP:0000316HP:0000316Hypertelorism0PAFAH1B1 CL E G H50488574ORPHA:21738517p13.3 microduplication syndromeHP:0040281 - Very frequent231
HP:0000316HP:0000316Hypertelorism0PAICS CL E G H106068587OMIM:619859
HP:0000316HP:0000316Hypertelorism0PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040283 - Occasional1349
HP:0000316HP:0000316Hypertelorism0PALB2 CL E G H7972826144OMIM:610832Fanconi anemia, complementation group N.1349
HP:0000316HP:0000316Hypertelorism0PARS2 CL E G H2597330563OMIM:618437Epileptic encephalopathy, early infantile, 7514
HP:0000316HP:0000316Hypertelorism0PAX3 CL E G H50778617OMIM:122880Craniofacial-Deafness-Hand syndrome.59
HP:0000316HP:0000316Hypertelorism0PAX3 CL E G H50778617ORPHA:1529Craniofacial-deafness-hand syndromeHP:0040281 - Very frequent59
HP:0000316HP:0000316Hypertelorism0PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 1.59
HP:0000316HP:0000316Hypertelorism0PDE4D CL E G H51448783ORPHA:950AcrodysostosisHP:0040282 - Frequent113
HP:0000316HP:0000316Hypertelorism0PDE4D CL E G H51448783ORPHA:439822PDE4D haploinsufficiency syndromeHP:0040283 - Occasional113
HP:0000316HP:0000316Hypertelorism0PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent1
HP:0000316HP:0000316Hypertelorism0PDHX CL E G H805021350OMIM:245349Pyruvate dehydrogenase e3-binding protein deficiency.98
HP:0000316HP:0000316Hypertelorism0PDZD8 CL E G H11898726974OMIM:620021
HP:0000316HP:0000316Hypertelorism0PEPD CL E G H51848840OMIM:170100Prolidase deficiency66
HP:0000316HP:0000316Hypertelorism0PEPD CL E G H51848840ORPHA:742Prolidase deficiencyHP:0040282 - Frequent66
HP:0000316HP:0000316Hypertelorism0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger).169
HP:0000316HP:0000316Hypertelorism0PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger).82
HP:0000316HP:0000316Hypertelorism0PEX3 CL E G H85048858OMIM:614882Peroxisome biogenesis disorder 10A (Zellweger).47
HP:0000316HP:0000316Hypertelorism0PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger).99
HP:0000316HP:0000316Hypertelorism0PEX6 CL E G H51908859OMIM:614862Peroxisome biogenesis disorder 4A (Zellweger).98
HP:0000316HP:0000316Hypertelorism0PEX6 CL E G H51908859OMIM:614863Peroxisome biogenesis disorder 4B.98
HP:0000316HP:0000316Hypertelorism0PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040281 - Very frequent8
HP:0000316HP:0000316Hypertelorism0PGAP3 CL E G H9321023719OMIM:615716Hyperphosphatasia with mental retardation syndrome 4.20
HP:0000316HP:0000316Hypertelorism0PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040281 - Very frequent20
HP:0000316HP:0000316Hypertelorism0PHACTR1 CL E G H22169220990OMIM:618298DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE701
HP:0000316HP:0000316Hypertelorism0PHGDH CL E G H262278923OMIM:256520Neu-Laxova syndrome.37
HP:0000316HP:0000316Hypertelorism0PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features.11
HP:0000316HP:0000316Hypertelorism0PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0000316HP:0000316Hypertelorism0PIEZO2 CL E G H6389526270OMIM:248700Marden-Walker syndrome.77
HP:0000316HP:0000316Hypertelorism0PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 2.46
HP:0000316HP:0000316Hypertelorism0PIGB CL E G H94888959OMIM:618580DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000316HP:0000316Hypertelorism0PIGG CL E G H5487225985ORPHA:488635Early-onset epilepsy-intellectual disability-brain anomalies syndromeHP:0040283 - Occasional7
HP:0000316HP:0000316Hypertelorism0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent7
HP:0000316HP:0000316Hypertelorism0PIGL CL E G H94878966ORPHA:3474CHIME syndromeHP:0040281 - Very frequent36
HP:0000316HP:0000316Hypertelorism0PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040281 - Very frequent36
HP:0000316HP:0000316Hypertelorism0PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome.36
HP:0000316HP:0000316Hypertelorism0PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040282 - Frequent37
HP:0000316HP:0000316Hypertelorism0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0000316HP:0000316Hypertelorism0PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 1.37
HP:0000316HP:0000316Hypertelorism0PIGO CL E G H8472023215OMIM:614749Hyperphosphatasia with mental retardation syndrome 284
HP:0000316HP:0000316Hypertelorism0PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040281 - Very frequent84
HP:0000316HP:0000316Hypertelorism0PIGV CL E G H5565026031OMIM:239300Hyperphosphatasia with mental retardation57
HP:0000316HP:0000316Hypertelorism0PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040281 - Very frequent57
HP:0000316HP:0000316Hypertelorism0PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040281 - Very frequent6
HP:0000316HP:0000316Hypertelorism0PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040281 - Very frequent2
HP:0000316HP:0000316Hypertelorism0PIK3CA CL E G H52908975OMIM:602501Megalencephaly-Capillary malformation-polymicrogyria syndrome.162
HP:0000316HP:0000316Hypertelorism0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0000316HP:0000316Hypertelorism0PIK3CD CL E G H52938977OMIM:613328Roifman-Chitayat syndrome.9
HP:0000316HP:0000316Hypertelorism0PIK3R1 CL E G H52958979ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional43
HP:0000316HP:0000316Hypertelorism0PIK3R1 CL E G H52958979ORPHA:3163SHORT syndromeHP:0040283 - Occasional43
HP:0000316HP:0000316Hypertelorism0PIK3R2 CL E G H52968980ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndromeHP:0040282 - Frequent12
HP:0000316HP:0000316Hypertelorism0PITX1 CL E G H53079004OMIM:119800CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF8
HP:0000316HP:0000316Hypertelorism0PITX2 CL E G H53089005ORPHA:782Axenfeld-Rieger syndromeHP:0040283 - Occasional51
HP:0000316HP:0000316Hypertelorism0PLCB3 CL E G H53319056OMIM:618961SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0000316HP:0000316Hypertelorism0PLP1 CL E G H53549086ORPHA:280229Pelizaeus-Merzbacher disease in female carriersHP:0040283 - Occasional60
HP:0000316HP:0000316Hypertelorism0PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040282 - Frequent150
HP:0000316HP:0000316Hypertelorism0POC1A CL E G H2588624488OMIM:614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosisHP:0040283 - Occasional10
HP:0000316HP:0000316Hypertelorism0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040282 - Frequent35
HP:0000316HP:0000316Hypertelorism0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0000316HP:0000316Hypertelorism0POLR1A CL E G H2588517264ORPHA:1200Burn-McKeown syndromeHP:0040281 - Very frequent8
HP:0000316HP:0000316Hypertelorism0POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional
HP:0000316HP:0000316Hypertelorism0POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional38
HP:0000316HP:0000316Hypertelorism0POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional31
HP:0000316HP:0000316Hypertelorism0POLR2A CL E G H54309187OMIM:618603NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0000316HP:0000316Hypertelorism0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040281 - Very frequent138
HP:0000316HP:0000316Hypertelorism0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome.138
HP:0000316HP:0000316Hypertelorism0POR CL E G H54479208OMIM:201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis.76
HP:0000316HP:0000316Hypertelorism0PPP1CB CL E G H55009282ORPHA:2701Noonan syndrome-like disorder with loose anagen hairHP:0040283 - Occasional9
HP:0000316HP:0000316Hypertelorism0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0000316HP:0000316Hypertelorism0PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000316HP:0000316Hypertelorism0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000316HP:0000316Hypertelorism0PPP2CA CL E G H55159299OMIM:618354Neurodevelopmental disorder and language delay with or without structural brain abnormalities.2
HP:0000316HP:0000316Hypertelorism0PPP2R1A CL E G H55189302OMIM:616362Mental retardation, autosomal dominant 36.13
HP:0000316HP:0000316Hypertelorism0PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndromeHP:0040282 - Frequent13
HP:0000316HP:0000316Hypertelorism0PPP2R5D CL E G H55289312OMIM:616355Mental retardation, autosomal dominant 35.10
HP:0000316HP:0000316Hypertelorism0PPP3CA CL E G H55309314OMIM:617711Epileptic encephalopathy, infantile or early childhood, 1.2
HP:0000316HP:0000316Hypertelorism0PRDM13 CL E G H5933613998OMIM:6199092
HP:0000316HP:0000316Hypertelorism0PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0000316HP:0000316Hypertelorism0PRKAR1A CL E G H55739388ORPHA:950AcrodysostosisHP:0040282 - Frequent134
HP:0000316HP:0000316Hypertelorism0PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance.134
HP:0000316HP:0000316Hypertelorism0PRKG1 CL E G H55929414ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional41
HP:0000316HP:0000316Hypertelorism0PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndromeHP:0040282 - Frequent6
HP:0000316HP:0000316Hypertelorism0PROK2 CL E G H6067518455ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional9
HP:0000316HP:0000316Hypertelorism0PROKR2 CL E G H12867415836ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional34
HP:0000316HP:0000316Hypertelorism0PRORP CL E G H969219958OMIM:619737COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000316HP:0000316Hypertelorism0PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndromeHP:0040282 - Frequent49
HP:0000316HP:0000316Hypertelorism0PSAT1 CL E G H2996819129OMIM:616038Neu-Laxova syndrome 2.27
HP:0000316HP:0000316Hypertelorism0PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile formHP:0040283 - Occasional27
HP:0000316HP:0000316Hypertelorism0PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent4
HP:0000316HP:0000316Hypertelorism0PSMD12 CL E G H57189557OMIM:617516Stankiewicz-Isidor syndrome4
HP:0000316HP:0000316Hypertelorism0PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0000316HP:0000316Hypertelorism0PTCH1 CL E G H57279585ORPHA:377Gorlin syndromeHP:0040283 - Occasional665
HP:0000316HP:0000316Hypertelorism0PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0000316HP:0000316Hypertelorism0PTCH2 CL E G H86439586ORPHA:377Gorlin syndromeHP:0040283 - Occasional40
HP:0000316HP:0000316Hypertelorism0PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfismHP:0040281 - Very frequent6
HP:0000316HP:0000316Hypertelorism0PTDSS1 CL E G H97919587OMIM:151050Lenz-Majewski hyperostotic dwarfism.6
HP:0000316HP:0000316Hypertelorism0PTEN CL E G H57289588ORPHA:79076Juvenile polyposis of infancyHP:0040282 - Frequent948
HP:0000316HP:0000316Hypertelorism0PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040282 - Frequent948
HP:0000316HP:0000316Hypertelorism0PTH1R CL E G H57459608OMIM:600002Eiken syndrome58
HP:0000316HP:0000316Hypertelorism0PTH1R CL E G H57459608OMIM:156400Metaphyseal chondrodysplasia, Jansen type.58
HP:0000316HP:0000316Hypertelorism0PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1.291
HP:0000316HP:0000316Hypertelorism0PTPN11 CL E G H57819644ORPHA:648Noonan syndromeHP:0040281 - Very frequent291
HP:0000316HP:0000316Hypertelorism0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1291
HP:0000316HP:0000316Hypertelorism0PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentiginesHP:0040281 - Very frequent291
HP:0000316HP:0000316Hypertelorism0PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic diseaseHP:0040283 - Occasional6
HP:0000316HP:0000316Hypertelorism0PTRH2 CL E G H5165124265OMIM:616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset.6
HP:0000316HP:0000316Hypertelorism0PYCR1 CL E G H58319721OMIM:612940Cutis laxa, autosomal recessive, type IIB.53
HP:0000316HP:0000316Hypertelorism0PYCR1 CL E G H58319721OMIM:614438Cutis laxa, autosomal recessive, type IIIB.53
HP:0000316HP:0000316Hypertelorism0PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathyHP:0040283 - Occasional11
HP:0000316HP:0000316Hypertelorism0QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0000316HP:0000316Hypertelorism0RAC3 CL E G H58819803OMIM:618577NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF1
HP:0000316HP:0000316Hypertelorism0RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0000316HP:0000316Hypertelorism0RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040283 - Occasional9
HP:0000316HP:0000316Hypertelorism0RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040283 - Occasional391
HP:0000316HP:0000316Hypertelorism0RAF1 CL E G H58949829OMIM:611554LEOPARD SYNDROME 2; LPRD2212
HP:0000316HP:0000316Hypertelorism0RAF1 CL E G H58949829ORPHA:648Noonan syndromeHP:0040281 - Very frequent212
HP:0000316HP:0000316Hypertelorism0RAF1 CL E G H58949829OMIM:611553Noonan syndrome 5212
HP:0000316HP:0000316Hypertelorism0RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentiginesHP:0040281 - Very frequent212
HP:0000316HP:0000316Hypertelorism0RAI1 CL E G H107439834ORPHA:171317p11.2 microduplication syndromeHP:0040283 - Occasional150
HP:0000316HP:0000316Hypertelorism0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent150
HP:0000316HP:0000316Hypertelorism0RAPSN CL E G H59139863ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent73
HP:0000316HP:0000316Hypertelorism0RAPSN CL E G H59139863OMIM:618388FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS273
HP:0000316HP:0000316Hypertelorism0RASA2 CL E G H59229872ORPHA:648Noonan syndromeHP:0040281 - Very frequent3
HP:0000316HP:0000316Hypertelorism0RB1 CL E G H59259884ORPHA:1587Monosomy 13q14HP:0040281 - Very frequent365
HP:0000316HP:0000316Hypertelorism0RBL2 CL E G H59349894OMIM:619690BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0000316HP:0000316Hypertelorism0RBM10 CL E G H82419896ORPHA:2886TARP syndromeHP:0040282 - Frequent16
HP:0000316HP:0000316Hypertelorism0RBM10 CL E G H82419896OMIM:311900Tarp syndrome.16
HP:0000316HP:0000316Hypertelorism0RECQL4 CL E G H94019949ORPHA:1225Baller-Gerold syndromeHP:0040283 - Occasional445
HP:0000316HP:0000316Hypertelorism0RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome.445
HP:0000316HP:0000316Hypertelorism0RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0000316HP:0000316Hypertelorism0RELN CL E G H56499957ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040281 - Very frequent334
HP:0000316HP:0000316Hypertelorism0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0000316HP:0000316Hypertelorism0RET CL E G H59799967ORPHA:1848Renal agenesis, bilateralHP:0040281 - Very frequent572
HP:0000316HP:0000316Hypertelorism0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040283 - Occasional
HP:0000316HP:0000316Hypertelorism0RIPK4 CL E G H54101496ORPHA:1401CHAND syndromeHP:0040282 - Frequent69
HP:0000316HP:0000316Hypertelorism0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0000316HP:0000316Hypertelorism0RIT1 CL E G H601610023ORPHA:648Noonan syndromeHP:0040281 - Very frequent39
HP:0000316HP:0000316Hypertelorism0RIT1 CL E G H601610023OMIM:615355NOONAN SYNDROME 8; NS839
HP:0000316HP:0000316Hypertelorism0RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome.7
HP:0000316HP:0000316Hypertelorism0RMRP CL E G H602310031OMIM:607095Anauxetic dysplasia.37
HP:0000316HP:0000316Hypertelorism0RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000316HP:0000316Hypertelorism0RNF2 CL E G H604510061OMIM:619460LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000316HP:0000316Hypertelorism0RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndromeHP:0040282 - Frequent15
HP:0000316HP:0000316Hypertelorism0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040281 - Very frequent120
HP:0000316HP:0000316Hypertelorism0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive.120
HP:0000316HP:0000316Hypertelorism0RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndromeHP:0040282 - Frequent109
HP:0000316HP:0000316Hypertelorism0RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndromeHP:0040282 - Frequent167
HP:0000316HP:0000316Hypertelorism0RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0000316HP:0000316Hypertelorism0RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0000316HP:0000316Hypertelorism0RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0000316HP:0000316Hypertelorism0RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0000316HP:0000316Hypertelorism0RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000316HP:0000316Hypertelorism0RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0000316HP:0000316Hypertelorism0RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0000316HP:0000316Hypertelorism0RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare11
HP:0000316HP:0000316Hypertelorism0RPL35A CL E G H616510345OMIM:612528Diamond-Blackfan anemia 511
HP:0000316HP:0000316Hypertelorism0RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare40
HP:0000316HP:0000316Hypertelorism0RPL5 CL E G H612510360OMIM:612561Diamond-Blackfan anemia 6.40
HP:0000316HP:0000316Hypertelorism0RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare26
HP:0000316HP:0000316Hypertelorism0RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0000316HP:0000316Hypertelorism0RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare5
HP:0000316HP:0000316Hypertelorism0RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare42
HP:0000316HP:0000316Hypertelorism0RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 142
HP:0000316HP:0000316Hypertelorism0RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000316HP:0000316Hypertelorism0RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0000316HP:0000316Hypertelorism0RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0000316HP:0000316Hypertelorism0RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000316HP:0000316Hypertelorism0RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000316HP:0000316Hypertelorism0RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0000316HP:0000316Hypertelorism0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndromeHP:0040281 - Very frequent65
HP:0000316HP:0000316Hypertelorism0RPS6KA3 CL E G H619710432OMIM:303600Coffin-Lowry syndrome.65
HP:0000316HP:0000316Hypertelorism0RPS6KA3 CL E G H619710432ORPHA:276630Symptomatic form of Coffin-Lowry syndrome in female carriersHP:0040283 - Occasional65
HP:0000316HP:0000316Hypertelorism0RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0000316HP:0000316Hypertelorism0RPS7 CL E G H620110440OMIM:612563Diamond-Blackfan anemia 8.20
HP:0000316HP:0000316Hypertelorism0RRAS CL E G H623710447ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0000316HP:0000316Hypertelorism0RRAS2 CL E G H2280017271ORPHA:648Noonan syndromeHP:0040281 - Very frequent1
HP:0000316HP:0000316Hypertelorism0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0000316HP:0000316Hypertelorism0RSPO2 CL E G H34041928583OMIM:618021Tetraamelia syndrome 2
HP:0000316HP:0000316Hypertelorism0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040281 - Very frequent2
HP:0000316HP:0000316Hypertelorism0RSPRY1 CL E G H8997029420OMIM:616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type.2
HP:0000316HP:0000316Hypertelorism0RSRC1 CL E G H5131924152OMIM:618402Intellectual developmental disorder, autosomal recessive 70.2
HP:0000316HP:0000316Hypertelorism0RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90
HP:0000316HP:0000316Hypertelorism0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040281 - Very frequent90
HP:0000316HP:0000316Hypertelorism0RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61.
HP:0000316HP:0000316Hypertelorism0RYR1 CL E G H626110483ORPHA:324581Benign Samaritan congenital myopathyHP:0040281 - Very frequent1200
HP:0000316HP:0000316Hypertelorism0RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0000316HP:0000316Hypertelorism0SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndromeHP:0040283 - Occasional86
HP:0000316HP:0000316Hypertelorism0SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome.86
HP:0000316HP:0000316Hypertelorism0SCN1A CL E G H632310585OMIM:619317DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B1053
HP:0000316HP:0000316Hypertelorism0SCNM1 CL E G H7900523136OMIM:620107
HP:0000316HP:0000316Hypertelorism0SCYL2 CL E G H5568119286ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional
HP:0000316HP:0000316Hypertelorism0SEC23A CL E G H1048410701ORPHA:50814Craniolenticulosutural dysplasiaHP:0040281 - Very frequent2
HP:0000316HP:0000316Hypertelorism0SEC23A CL E G H1048410701OMIM:607812Craniolenticulosutural dysplasia.2
HP:0000316HP:0000316Hypertelorism0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0000316HP:0000316Hypertelorism0SEC24D CL E G H987110706OMIM:616294Cole-Carpenter syndrome 2.5
HP:0000316HP:0000316Hypertelorism0SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040283 - Occasional16
HP:0000316HP:0000316Hypertelorism0SEMA5A CL E G H903710736ORPHA:281Monosomy 5pHP:0040282 - Frequent6
HP:0000316HP:0000316Hypertelorism0SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 58.1
HP:0000316HP:0000316Hypertelorism0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29.143
HP:0000316HP:0000316Hypertelorism0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0000316HP:0000316Hypertelorism0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040282 - Frequent143
HP:0000316HP:0000316Hypertelorism0SETD1A CL E G H973929010OMIM:619056NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID6
HP:0000316HP:0000316Hypertelorism0SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0000316HP:0000316Hypertelorism0SH3PXD2B CL E G H28559029242ORPHA:137834Frank-Ter Haar syndromeHP:0040281 - Very frequent134
HP:0000316HP:0000316Hypertelorism0SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0000316HP:0000316Hypertelorism0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0000316HP:0000316Hypertelorism0SHOC2 CL E G H803615454ORPHA:2701Noonan syndrome-like disorder with loose anagen hairHP:0040283 - Occasional74
HP:0000316HP:0000316Hypertelorism0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0000316HP:0000316Hypertelorism0SIAH1 CL E G H647710857OMIM:619314BURATTI-HAREL SYNDROME; BURHAS
HP:0000316HP:0000316Hypertelorism0SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type.
HP:0000316HP:0000316Hypertelorism0SIN3A CL E G H2594219353ORPHA:9406515q24 microdeletion syndromeHP:0040283 - Occasional9
HP:0000316HP:0000316Hypertelorism0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000316HP:0000316Hypertelorism0SIX2 CL E G H1073610888ORPHA:488437SIX2-related frontonasal dysplasiaHP:0040282 - Frequent2
HP:0000316HP:0000316Hypertelorism0SKI CL E G H649710896OMIM:182212Shprintzen-Goldberg craniosynostosis syndrome150
HP:0000316HP:0000316Hypertelorism0SKI CL E G H649710896ORPHA:2462Shprintzen-Goldberg syndromeHP:0040281 - Very frequent150
HP:0000316HP:0000316Hypertelorism0SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrheaHP:0040282 - Frequent
HP:0000316HP:0000316Hypertelorism0SKIC2 CL E G H649910898OMIM:614602Trichohepatoenteric syndrome 2.
HP:0000316HP:0000316Hypertelorism0SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrheaHP:0040282 - Frequent
HP:0000316HP:0000316Hypertelorism0SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1
HP:0000316HP:0000316Hypertelorism0SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy.163
HP:0000316HP:0000316Hypertelorism0SLC18A3 CL E G H657210936ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent2
HP:0000316HP:0000316Hypertelorism0SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndromeHP:0040283 - Occasional4
HP:0000316HP:0000316Hypertelorism0SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0000316HP:0000316Hypertelorism0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome.
HP:0000316HP:0000316Hypertelorism0SLC25A24 CL E G H2995720662ORPHA:2095Gorlin-Chaudhry-Moss syndromeHP:0040281 - Very frequent
HP:0000316HP:0000316Hypertelorism0SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040283 - Occasional166
HP:0000316HP:0000316Hypertelorism0SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasiaHP:0040282 - Frequent166
HP:0000316HP:0000316Hypertelorism0SLC29A3 CL E G H5531523096ORPHA:1782DysosteosclerosisHP:0040281 - Very frequent68
HP:0000316HP:0000316Hypertelorism0SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndromeHP:0040282 - Frequent178
HP:0000316HP:0000316Hypertelorism0SLC2A10 CL E G H8103113444OMIM:208050Arterial tortuosity syndrome.178
HP:0000316HP:0000316Hypertelorism0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040283 - Occasional71
HP:0000316HP:0000316Hypertelorism0SLC37A4 CL E G H25424061OMIM:619525CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W110
HP:0000316HP:0000316Hypertelorism0SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 324
HP:0000316HP:0000316Hypertelorism0SLC45A1 CL E G H5065117939OMIM:617532Intellectual developmental disorder with neuropsychiatric features.2
HP:0000316HP:0000316Hypertelorism0SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040283 - Occasional274
HP:0000316HP:0000316Hypertelorism0SMAD2 CL E G H40876768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional7
HP:0000316HP:0000316Hypertelorism0SMAD3 CL E G H40886769ORPHA:284984Aneurysm-osteoarthritis syndromeHP:0040282 - Frequent260
HP:0000316HP:0000316Hypertelorism0SMAD3 CL E G H40886769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional260
HP:0000316HP:0000316Hypertelorism0SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0000316HP:0000316Hypertelorism0SMAD4 CL E G H40896770ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional504
HP:0000316HP:0000316Hypertelorism0SMAD4 CL E G H40896770OMIM:139210Myhre syndrome.504
HP:0000316HP:0000316Hypertelorism0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0000316HP:0000316Hypertelorism0SMARCD1 CL E G H660211106OMIM:618779COFFIN-SIRIS SYNDROME 11; CSS11
HP:0000316HP:0000316Hypertelorism0SMCHD1 CL E G H2334729090OMIM:603457Bosma arhinia microphthalmia syndrome.174
HP:0000316HP:0000316Hypertelorism0SMG9 CL E G H5600625763OMIM:616920Heart and brain malformation syndrome2
HP:0000316HP:0000316Hypertelorism0SMO CL E G H660811119ORPHA:1553Curry-Jones syndromeHP:0040281 - Very frequent22
HP:0000316HP:0000316Hypertelorism0SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type.19
HP:0000316HP:0000316Hypertelorism0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040283 - Occasional19
HP:0000316HP:0000316Hypertelorism0SNAP29 CL E G H934211133ORPHA:66631CEDNIK syndromeHP:0040281 - Very frequent94
HP:0000316HP:0000316Hypertelorism0SNAP29 CL E G H934211133OMIM:609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome94
HP:0000316HP:0000316Hypertelorism0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0000316HP:0000316Hypertelorism0SOS1 CL E G H665411187ORPHA:648Noonan syndromeHP:0040281 - Very frequent315
HP:0000316HP:0000316Hypertelorism0SOS1 CL E G H665411187OMIM:610733Noonan syndrome 4315
HP:0000316HP:0000316Hypertelorism0SOS2 CL E G H665511188ORPHA:648Noonan syndromeHP:0040281 - Very frequent30
HP:0000316HP:0000316Hypertelorism0SOS2 CL E G H665511188OMIM:616559NOONAN SYNDROME 9; NS930
HP:0000316HP:0000316Hypertelorism0SOST CL E G H5096413771OMIM:122860Craniodiaphyseal dysplasia, autosomal dominant.26
HP:0000316HP:0000316Hypertelorism0SOST CL E G H5096413771OMIM:269500Sclerosteosis 1.26
HP:0000316HP:0000316Hypertelorism0SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0000316HP:0000316Hypertelorism0SOX9 CL E G H666211204ORPHA:140Campomelic dysplasiaHP:0040282 - Frequent109
HP:0000316HP:0000316Hypertelorism0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia.109
HP:0000316HP:0000316Hypertelorism0SPART CL E G H2311118514ORPHA:101000Autosomal recessive spastic paraplegia type 20HP:0040282 - Frequent66
HP:0000316HP:0000316Hypertelorism0SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive.66
HP:0000316HP:0000316Hypertelorism0SPECC1L CL E G H2338429022OMIM:145420Hypertelorism, Teebi type.6
HP:0000316HP:0000316Hypertelorism0SPECC1L CL E G H2338429022ORPHA:1519SPECC1L-related hypertelorism syndromeHP:0040281 - Very frequent6
HP:0000316HP:0000316Hypertelorism0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000316HP:0000316Hypertelorism0SPINT2 CL E G H1065311247OMIM:270420Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies.6
HP:0000316HP:0000316Hypertelorism0SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0000316HP:0000316Hypertelorism0SPRED1 CL E G H16174220249OMIM:611431Legius syndrome.136
HP:0000316HP:0000316Hypertelorism0SPRED2 CL E G H20073417722ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0000316HP:0000316Hypertelorism0SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0000316HP:0000316Hypertelorism0SPRY4 CL E G H8184815533ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional5
HP:0000316HP:0000316Hypertelorism0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000316HP:0000316Hypertelorism0SRD5A3 CL E G H7964425812OMIM:612379Congenital disorder of glycosylation, type IQ.80
HP:0000316HP:0000316Hypertelorism0STAMBP CL E G H1061716950OMIM:614261Microcephaly-Capillary malformation syndrome.24
HP:0000316HP:0000316Hypertelorism0STAT3 CL E G H677411364OMIM:147060Hyper-IgE recurrent infection syndrome.110
HP:0000316HP:0000316Hypertelorism0STRADA CL E G H9233530172OMIM:611087Polyhydramnios, megalencephaly, and symptomatic epilepsy6
HP:0000316HP:0000316Hypertelorism0SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0000316HP:0000316Hypertelorism0SUFU CL E G H5168416466ORPHA:377Gorlin syndromeHP:0040283 - Occasional124
HP:0000316HP:0000316Hypertelorism0SUFU CL E G H5168416466OMIM:617757Joubert syndrome 32.124
HP:0000316HP:0000316Hypertelorism0SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000316HP:0000316Hypertelorism0SUZ12 CL E G H2351217101OMIM:618786IMAGAWA-MATSUMOTO SYNDROME; IMMAS1
HP:0000316HP:0000316Hypertelorism0SUZ12 CL E G H2351217101ORPHA:3447Weaver syndromeHP:0040281 - Very frequent1
HP:0000316HP:0000316Hypertelorism0TAC3 CL E G H686611521ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional6
HP:0000316HP:0000316Hypertelorism0TACR3 CL E G H687011528ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional34
HP:0000316HP:0000316Hypertelorism0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0000316HP:0000316Hypertelorism0TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000316HP:0000316Hypertelorism0TAPT1 CL E G H20201826887OMIM:616897Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type2
HP:0000316HP:0000316Hypertelorism0TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000316HP:0000316Hypertelorism0TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000316HP:0000316Hypertelorism0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040282 - Frequent271
HP:0000316HP:0000316Hypertelorism0TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0000316HP:0000316Hypertelorism0TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeHP:0040283 - Occasional16
HP:0000316HP:0000316Hypertelorism0TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0000316HP:0000316Hypertelorism0TBCE CL E G H690511582ORPHA:93324Autosomal recessive Kenny-Caffey syndromeHP:0040282 - Frequent52
HP:0000316HP:0000316Hypertelorism0TBCE CL E G H690511582OMIM:244460Kenny-caffey syndrome, type 1.52
HP:0000316HP:0000316Hypertelorism0TBL1XR1 CL E G H7971829529ORPHA:487825Pierpont syndromeHP:0040282 - Frequent22
HP:0000316HP:0000316Hypertelorism0TBL1XR1 CL E G H7971829529OMIM:602342Pierpont syndrome.22
HP:0000316HP:0000316Hypertelorism0TBR1 CL E G H1071611590ORPHA:16172q24 microdeletion syndromeHP:0040282 - Frequent1
HP:0000316HP:0000316Hypertelorism0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional32
HP:0000316HP:0000316Hypertelorism0TBX1 CL E G H689911592ORPHA:172722q11.2 duplication syndromeHP:0040282 - Frequent32
HP:0000316HP:0000316Hypertelorism0TBX1 CL E G H689911592OMIM:217095Conotruncal heart malformationsHP:0040283 - Occasional32
HP:0000316HP:0000316Hypertelorism0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome.32
HP:0000316HP:0000316Hypertelorism0TBX15 CL E G H691311594ORPHA:93333Pelviscapular dysplasiaHP:0040282 - Frequent5
HP:0000316HP:0000316Hypertelorism0TBX2 CL E G H690911597OMIM:618223VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION.
HP:0000316HP:0000316Hypertelorism0TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndromeHP:0040283 - Occasional55
HP:0000316HP:0000316Hypertelorism0TCF12 CL E G H693811623ORPHA:35099Isolated brachycephalyHP:0040283 - Occasional28
HP:0000316HP:0000316Hypertelorism0TCF3 CL E G H692911633OMIM:619824AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B2
HP:0000316HP:0000316Hypertelorism0TCF3 CL E G H692911633ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional2
HP:0000316HP:0000316Hypertelorism0TCIRG1 CL E G H1031211647ORPHA:1782DysosteosclerosisHP:0040281 - Very frequent82
HP:0000316HP:0000316Hypertelorism0TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional140
HP:0000316HP:0000316Hypertelorism0TCTN1 CL E G H7960026113ORPHA:564Meckel syndromeHP:0040282 - Frequent45
HP:0000316HP:0000316Hypertelorism0TCTN2 CL E G H7986725774ORPHA:564Meckel syndromeHP:0040282 - Frequent76
HP:0000316HP:0000316Hypertelorism0TCTN3 CL E G H2612324519ORPHA:564Meckel syndromeHP:0040282 - Frequent31
HP:0000316HP:0000316Hypertelorism0TCTN3 CL E G H2612324519OMIM:258860Orofaciodigital syndrome IV.31
HP:0000316HP:0000316Hypertelorism0TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040281 - Very frequent31
HP:0000316HP:0000316Hypertelorism0TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent31
HP:0000316HP:0000316Hypertelorism0TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorderHP:0040283 - Occasional12
HP:0000316HP:0000316Hypertelorism0TENM3 CL E G H5571429944OMIM:615145Microphthalmia, isolated, with coloboma 9.12
HP:0000316HP:0000316Hypertelorism0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0000316HP:0000316Hypertelorism0TFAP2B CL E G H702111743OMIM:169100Char syndrome.104
HP:0000316HP:0000316Hypertelorism0TFAP2B CL E G H702111743ORPHA:46627Char syndromeHP:0040281 - Very frequent104
HP:0000316HP:0000316Hypertelorism0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000316HP:0000316Hypertelorism0TGDS CL E G H2348320324ORPHA:1388Catel-Manzke syndromeHP:0040283 - Occasional6
HP:0000316HP:0000316Hypertelorism0TGFB2 CL E G H704211768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional162
HP:0000316HP:0000316Hypertelorism0TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0000316HP:0000316Hypertelorism0TGFB3 CL E G H704311769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional85
HP:0000316HP:0000316Hypertelorism0TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0000316HP:0000316Hypertelorism0TGFBR1 CL E G H704611772ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional239
HP:0000316HP:0000316Hypertelorism0TGFBR1 CL E G H704611772ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent239
HP:0000316HP:0000316Hypertelorism0TGFBR1 CL E G H704611772OMIM:609192Loeys-Dietz syndrome 1239
HP:0000316HP:0000316Hypertelorism0TGFBR2 CL E G H704811773ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional253
HP:0000316HP:0000316Hypertelorism0TGFBR2 CL E G H704811773ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent253
HP:0000316HP:0000316Hypertelorism0TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2253
HP:0000316HP:0000316Hypertelorism0THOC2 CL E G H5718719073ORPHA:457240X-linked intellectual disability-short stature-overweight syndromeHP:0040283 - Occasional5
HP:0000316HP:0000316Hypertelorism0THRA CL E G H706711796OMIM:614450Hypothyroidism, congenital, nongoitrous, 6.9
HP:0000316HP:0000316Hypertelorism0THSD4 CL E G H7987525835OMIM:619825AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT122
HP:0000316HP:0000316Hypertelorism0THUMPD1 CL E G H5562323807OMIM:619989
HP:0000316HP:0000316Hypertelorism0TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 571
HP:0000316HP:0000316Hypertelorism0TMCO1 CL E G H5449918188ORPHA:1394Cerebrofaciothoracic dysplasiaHP:0040281 - Very frequent6
HP:0000316HP:0000316Hypertelorism0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome.6
HP:0000316HP:0000316Hypertelorism0TMEM107 CL E G H8431428128ORPHA:564Meckel syndromeHP:0040282 - Frequent4
HP:0000316HP:0000316Hypertelorism0TMEM138 CL E G H5152426944OMIM:614465JOUBERT SYNDROME 16; JBTS1639
HP:0000316HP:0000316Hypertelorism0TMEM147 CL E G H1043030414OMIM:620075
HP:0000316HP:0000316Hypertelorism0TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 2.45
HP:0000316HP:0000316Hypertelorism0TMEM216 CL E G H5125925018ORPHA:564Meckel syndromeHP:0040282 - Frequent45
HP:0000316HP:0000316Hypertelorism0TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent45
HP:0000316HP:0000316Hypertelorism0TMEM231 CL E G H7958337234ORPHA:564Meckel syndromeHP:0040282 - Frequent33
HP:0000316HP:0000316Hypertelorism0TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 3HP:0040282 - Frequent33
HP:0000316HP:0000316Hypertelorism0TMEM237 CL E G H6506214432OMIM:614424Joubert syndrome 14.82
HP:0000316HP:0000316Hypertelorism0TMEM237 CL E G H6506214432ORPHA:564Meckel syndromeHP:0040282 - Frequent82
HP:0000316HP:0000316Hypertelorism0TMEM53 CL E G H7963926186OMIM:619727CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000316HP:0000316Hypertelorism0TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1.166
HP:0000316HP:0000316Hypertelorism0TMEM67 CL E G H9114728396ORPHA:564Meckel syndromeHP:0040282 - Frequent166
HP:0000316HP:0000316Hypertelorism0TMEM94 CL E G H977228983OMIM:618316Intellectual developmental disorder with cardiac defects and dysmorphic facies.1
HP:0000316HP:0000316Hypertelorism0TNFRSF11A CL E G H879211908ORPHA:1782DysosteosclerosisHP:0040281 - Very frequent72
HP:0000316HP:0000316Hypertelorism0TOGARAM1 CL E G H2311619959OMIM:619185JOUBERT SYNDROME 37; JBTS37
HP:0000316HP:0000316Hypertelorism0TONSL CL E G H47967801OMIM:271510Spondyloepimetaphyseal dysplasia, Sponastrime type.
HP:0000316HP:0000316Hypertelorism0TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent61
HP:0000316HP:0000316Hypertelorism0TP53RK CL E G H11285816197ORPHA:2065Galloway-Mowat syndromeHP:0040283 - Occasional
HP:0000316HP:0000316Hypertelorism0TP53RK CL E G H11285816197OMIM:617730Galloway-Mowat syndrome 4.
HP:0000316HP:0000316Hypertelorism0TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional54
HP:0000316HP:0000316Hypertelorism0TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional108
HP:0000316HP:0000316Hypertelorism0TPM3 CL E G H717012012ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional108
HP:0000316HP:0000316Hypertelorism0TPRKB CL E G H5100224259ORPHA:2065Galloway-Mowat syndromeHP:0040283 - Occasional
HP:0000316HP:0000316Hypertelorism0TPRKB CL E G H5100224259OMIM:617731Galloway-Mowat syndrome 5.
HP:0000316HP:0000316Hypertelorism0TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndromeHP:0040281 - Very frequent158
HP:0000316HP:0000316Hypertelorism0TRAPPC9 CL E G H8369630832OMIM:613192Mental retardation, autosomal recessive 13HP:0040283 - Occasional158
HP:0000316HP:0000316Hypertelorism0TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism.78
HP:0000316HP:0000316Hypertelorism0TRIO CL E G H720412303OMIM:618825INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD638
HP:0000316HP:0000316Hypertelorism0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0000316HP:0000316Hypertelorism0TRIP12 CL E G H932012306OMIM:617752Mental retardation, autosomal dominant 49.2
HP:0000316HP:0000316Hypertelorism0TRIP4 CL E G H932512310OMIM:616866Spinal muscular atrophy with congenital bone fractures 14
HP:0000316HP:0000316Hypertelorism0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism.2
HP:0000316HP:0000316Hypertelorism0TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000316HP:0000316Hypertelorism0TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000316HP:0000316Hypertelorism0TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndromeHP:0040284 - Very rare26
HP:0000316HP:0000316Hypertelorism0TUBA1A CL E G H784620766ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent106
HP:0000316HP:0000316Hypertelorism0TUBB CL E G H20306820778OMIM:156610Skin creases, congenital symmetric circumferential, 1.14
HP:0000316HP:0000316Hypertelorism0TWIST1 CL E G H729112428ORPHA:35099Isolated brachycephalyHP:0040283 - Occasional18
HP:0000316HP:0000316Hypertelorism0TWIST1 CL E G H729112428OMIM:180750Robinow-Sorauf syndrome.18
HP:0000316HP:0000316Hypertelorism0TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent18
HP:0000316HP:0000316Hypertelorism0TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome.18
HP:0000316HP:0000316Hypertelorism0TWIST1 CL E G H729112428OMIM:617746Sweeney-Cox syndrome.18
HP:0000316HP:0000316Hypertelorism0TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome.7
HP:0000316HP:0000316Hypertelorism0TWIST2 CL E G H11758120670ORPHA:1231Barber-Say syndromeHP:0040281 - Very frequent7
HP:0000316HP:0000316Hypertelorism0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome.7
HP:0000316HP:0000316Hypertelorism0TXNDC15 CL E G H7977020652OMIM:6198792
HP:0000316HP:0000316Hypertelorism0TXNDC15 CL E G H7977020652ORPHA:564Meckel syndromeHP:0040282 - Frequent2
HP:0000316HP:0000316Hypertelorism0TXNL4A CL E G H1090730551OMIM:608572Burn-Mckeown syndrome.19
HP:0000316HP:0000316Hypertelorism0TXNL4A CL E G H1090730551ORPHA:1200Burn-McKeown syndromeHP:0040281 - Very frequent19
HP:0000316HP:0000316Hypertelorism0UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0000316HP:0000316Hypertelorism0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040282 - Frequent7
HP:0000316HP:0000316Hypertelorism0UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040283 - Occasional2
HP:0000316HP:0000316Hypertelorism0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0000316HP:0000316Hypertelorism0UBR7 CL E G H5514820344OMIM:619189LI-CAMPEAU SYNDROME; LICAS1
HP:0000316HP:0000316Hypertelorism0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0000316HP:0000316Hypertelorism0UMPS CL E G H737212563ORPHA:30Hereditary orotic aciduriaHP:0040282 - Frequent135
HP:0000316HP:0000316Hypertelorism0USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropeniaHP:0040283 - Occasional8
HP:0000316HP:0000316Hypertelorism0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent6
HP:0000316HP:0000316Hypertelorism0VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0000316HP:0000316Hypertelorism0VPS51 CL E G H7381172OMIM:618606PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000316HP:0000316Hypertelorism0VSX1 CL E G H3081312723OMIM:614195Craniofacial anomalies and anterior segment dysgenesis syndrome.47
HP:0000316HP:0000316Hypertelorism0WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome.20
HP:0000316HP:0000316Hypertelorism0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040283 - Occasional20
HP:0000316HP:0000316Hypertelorism0WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040283 - Occasional2
HP:0000316HP:0000316Hypertelorism0WASHC5 CL E G H989728984ORPHA:73C syndromeHP:0040281 - Very frequent83
HP:0000316HP:0000316Hypertelorism0WASHC5 CL E G H989728984OMIM:220210Ritscher-Schinzel syndrome 1.83
HP:0000316HP:0000316Hypertelorism0WDPCP CL E G H5105728027OMIM:217085Congenital heart defects, hamartomas of tongue, and polysyndactylyHP:0040283 - Occasional60
HP:0000316HP:0000316Hypertelorism0WDR11 CL E G H5571713831ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional10
HP:0000316HP:0000316Hypertelorism0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0000316HP:0000316Hypertelorism0WDR37 CL E G H2288431406OMIM:618652NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000316HP:0000316Hypertelorism0WDR4 CL E G H1078512756ORPHA:2065Galloway-Mowat syndromeHP:0040283 - Occasional
HP:0000316HP:0000316Hypertelorism0WDR73 CL E G H8494225928ORPHA:2065Galloway-Mowat syndromeHP:0040283 - Occasional14
HP:0000316HP:0000316Hypertelorism0WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 1.14
HP:0000316HP:0000316Hypertelorism0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040281 - Very frequent98
HP:0000316HP:0000316Hypertelorism0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 1.98
HP:0000316HP:0000316Hypertelorism0WNT9B CL E G H748412779ORPHA:1848Renal agenesis, bilateralHP:0040281 - Very frequent
HP:0000316HP:0000316Hypertelorism0XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040283 - Occasional125
HP:0000316HP:0000316Hypertelorism0XYLT2 CL E G H6413215517ORPHA:85194Spondylo-ocular syndromeHP:0040281 - Very frequent5
HP:0000316HP:0000316Hypertelorism0YWHAE CL E G H753112851ORPHA:21738517p13.3 microduplication syndromeHP:0040281 - Very frequent14
HP:0000316HP:0000316Hypertelorism0ZBTB18 CL E G H1047213030ORPHA:36367Distal monosomy 1qHP:0040281 - Very frequent16
HP:0000316HP:0000316Hypertelorism0ZBTB18 CL E G H1047213030OMIM:612337Mental retardation, autosomal dominant 22.16
HP:0000316HP:0000316Hypertelorism0ZBTB24 CL E G H984121143ORPHA:2268ICF syndromeHP:0040283 - Occasional9
HP:0000316HP:0000316Hypertelorism0ZBTB24 CL E G H984121143OMIM:614069Immunodeficiency-Centromeric instability-facial anomalies syndrome2.9
HP:0000316HP:0000316Hypertelorism0ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome.362
HP:0000316HP:0000316Hypertelorism0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040283 - Occasional362
HP:0000316HP:0000316Hypertelorism0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040283 - Occasional362
HP:0000316HP:0000316Hypertelorism0ZIC1 CL E G H754512872OMIM:616602Craniosynostosis 6.5
HP:0000316HP:0000316Hypertelorism0ZIC1 CL E G H754512872ORPHA:35099Isolated brachycephalyHP:0040283 - Occasional5
HP:0000316HP:0000316Hypertelorism0ZIC2 CL E G H754612873OMIM:609637Holoprosencephaly 534
HP:0000316HP:0000316Hypertelorism0ZIC3 CL E G H754712874OMIM:306955Heterotaxy, visceral, 1, X-linked.39
HP:0000316HP:0000316Hypertelorism0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000316HP:0000316Hypertelorism0ZMPSTE24 CL E G H1026912877ORPHA:1662Restrictive dermopathyHP:0040281 - Very frequent83
HP:0000316HP:0000316Hypertelorism0ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal.83
HP:0000316HP:0000316Hypertelorism0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000316HP:0000316Hypertelorism0ZMYND11 CL E G H1077116966OMIM:616083Mental retardation, autosomal dominant 30.24
HP:0000316HP:0000316Hypertelorism0ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0000316HP:0000316Hypertelorism0ZNF526 CL E G H11611529415OMIM:61987724
HP:0000316HP:0000316Hypertelorism0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0000316HP:0000316Hypertelorism0ZSWIM6 CL E G H5768829316OMIM:603671Acromelic frontonasal dysostosis.5
HP:0000316HP:0000316Hypertelorism0ZSWIM6 CL E G H5768829316ORPHA:1827Acromelic frontonasal dysplasiaHP:0040281 - Very frequent5


Genes (751) :ABCD4 ACOX1 ACTA1 ACTA2 ACTB ACTG1 ACTL6B ACY1 ADA2 ADAMTS3 ADAT3 ADGRG6 ADK AFF3 AFF4 AGA AHDC1 AIFM1 AKT1 AKT3 ALDH18A1 ALDH6A1 ALG1 ALG13 ALG6 ALG8 ALG9 ALX1 ALX3 ALX4 AMER1 ANAPC7 ANK1 ANKH ANKRD11 ANTXR1 AP1G1 AP4S1 APC ARID1B ARVCF ASH1L ASXL1 ASXL2 ASXL3 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATRX AUTS2 AVP B3GALT6 B3GAT3 B3GLCT B4GALT1 B4GALT7 B9D1 B9D2 BBS7 BCAS3 BCL11B BCORL1 BGN BICRA BLNK BLTP1 BMP2 BMPER BMPR1A BNC2 BPTF BRAF BRCA1 BRCA2 BRCC3 BRIP1 BRPF1 BUB1B C12ORF57 CACNA1G CAMTA1 CARS1 CASK CBL CC2D2A CCBE1 CCDC22 CCDC32 CCDC47 CCND2 CCNK CD79A CD79B CDC42 CDC42BPB CDCA7 CDH1 CDH11 CDH2 CDK10 CDK13 CDK19 CENPF CENPJ CEP120 CEP290 CHD3 CHD4 CHD7 CHD8 CHRNA1 CHRNA7 CHRND CHRNG CHST14 CHST3 CHSY1 CIT CLCN3 CLCN6 CLCN7 CNOT3 CNTN1 CNTNAP2 COG1 COL11A1 COL11A2 COL1A1 COL1A2 COL25A1 COL27A1 COL2A1 COL3A1 COLEC10 COLEC11 COMT COX7B CPLANE1 CPLX1 CREBBP CSNK2A1 CSPP1 CTBP1 CTCF CTNND1 CTNND2 CTU2 DCHS1 DDR2 DDX3X DDX59 DDX6 DEAF1 DEF6 DHCR7 DHX37 DICER1 DLX4 DNAJC21 DNMT3A DNMT3B DOCK6 DOK7 DPF2 DPH1 DPM1 DPYD DPYSL5 DSE DUSP6 DVL1 DVL3 EBF3 EBP EDEM3 EED EFEMP2 EFNB1 EHMT1 EIF2AK3 EIF5A ELN EMC1 EP300 EPB41L1 EPG5 ERCC2 ERCC3 ERCC4 ERF ERGIC1 ERMARD ESCO2 EXOC2 EXOSC9 EXT2 EXTL3 EZH2 FAM111A FAM149B1 FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FAT4 FBN1 FBXO11 FBXO31 FGD1 FGF10 FGF17 FGF20 FGF3 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FH FIBP FIG4 FLCN FLI1 FLII FLNA FLNB FOXC1 FOXE3 FOXF1 FOXP1 FRAS1 FREM1 FREM2 FUCA1 FZD2 GAD1 GALNT2 GATA1 GATA6 GATAD2B GBA1 GFRA1 GJA1 GJA5 GJA8 GK GLB1 GLE1 GLI3 GNE GNPTAB GNRH1 GNRHR GNS GON7 GP1BB GPAA1 GPC3 GPC4 GREB1L GRIP1 GTF2E2 GTF2H5 H3-3A H4C11 H4C3 H4C9 HACE1 HBA1 HBA2 HDAC4 HDAC8 HEATR3 HELLS HERC1 HEY2 HID1 HIRA HIVEP2 HMGA2 HNRNPH2 HNRNPU HPDL HRAS HS2ST1 HS6ST1 HSD17B4 HSPG2 HUWE1 IDUA IFT140 IFT43 IGHM IGLL1 IL11RA IL1RAPL1 IL6ST INPPL1 INSR INTS1 INTS8 INTU IPO8 IQSEC2 IRX5 ITCH ITGA3 ITGA8 JAG1 JMJD1C KAT6B KATNB1 KATNIP KBTBD13 KCNH1 KCNJ2 KCNJ5 KCNMA1 KCNN3 KDM1A KIAA0586 KIAA0753 KIF15 KIF7 KIFBP KISS1 KISS1R KLF13 KLHL41 KMT2A KNL1 KNSTRN KPTN KRAS KREMEN1 LAGE3 LBR LEMD3 LETM1 LIG4 LMBR1 LMNA LMNB1 LOX LRP2 LRP4 LRP5 LRPPRC LRRC8A LTBP4 LZTR1 MACF1 MAD2L2 MAF MAN1B1 MAN2B1 MAN2C1 MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPK8IP3 MAPRE2 MARS2 MASP1 MAT2A MBD5 MCTP2 MED12 MED12L MED13 MED13L MED25 MED27 MEF2C MEGF8 MFAP5 MGAT2 MICU1 MID1 MKS1 MMP2 MN1 MOCS1 MOCS2 MPLKIP MRAS MRPS14 MTOR MUSK MYH11 MYH3 MYLK MYOD1 MYPN NAA10 NALCN NARS1 NBAS NCDN NDE1 NEB NELFA NF1 NFASC NFIX NGLY1 NKX2-5 NKX2-6 NKX3-2 NONO NOTCH2 NOTCH3 NRAS NRCAM NSD1 NSD2 NSMCE3 NSMF NSRP1 NSUN2 NUP107 NUP133 NUP88 NXN ODC1 OFD1 OGT OSGEP OTUD5 PACS1 PACS2 PAFAH1B1 PAICS PALB2 PARS2 PAX3 PDE4D PDE6D PDHX PDZD8 PEPD PEX1 PEX2 PEX3 PEX5 PEX6 PGAP2 PGAP3 PHACTR1 PHGDH PHIP PIEZO2 PIGA PIGB PIGG PIGL PIGN PIGO PIGV PIGW PIGY PIK3CA PIK3CD PIK3R1 PIK3R2 PITX1 PITX2 PLCB3 PLP1 PMM2 POC1A POGZ POLR1A POLR1B POLR1C POLR1D POLR2A POLR3A POR PPP1CB PPP1R12A PPP1R21 PPP2CA PPP2R1A PPP2R5D PPP3CA PRDM13 PRKACB PRKAR1A PRKG1 PRMT7 PROK2 PROKR2 PRORP PRPS1 PSAT1 PSMD12 PTCH1 PTCH2 PTDSS1 PTEN PTH1R PTPN11 PTRH2 PYCR1 PYCR2 QRICH1 RAC3 RAD21 RAD51 RAD51C RAF1 RAI1 RAPSN RASA2 RB1 RBL2 RBM10 RECQL4 RELN RERE RET RFWD3 RIPK4 RIT1 RLIM RMRP RNF113A RNF2 RNU4ATAC ROR2 RPGRIP1 RPGRIP1L RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RRAS RRAS2 RREB1 RSPO2 RSPRY1 RSRC1 RUNX2 RUSC2 RYR1 SALL4 SCN1A SCNM1 SCYL2 SEC23A SEC24C SEC24D SEMA3E SEMA5A SET SETBP1 SETD1A SH2B1 SH3PXD2B SHANK3 SHOC2 SIAH1 SIK3 SIN3A SIX2 SKI SKIC2 SKIC3 SLC12A6 SLC18A3 SLC1A4 SLC25A12 SLC25A24 SLC26A2 SLC29A3 SLC2A10 SLC35C1 SLC37A4 SLC39A13 SLC45A1 SLX4 SMAD2 SMAD3 SMAD4 SMARCA2 SMARCD1 SMCHD1 SMG9 SMO SMS SNAP29 SNRPN SOS1 SOS2 SOST SOX6 SOX9 SPART SPECC1L SPEN SPINT2 SPOP SPRED1 SPRED2 SPRY4 SPTBN1 SRD5A3 STAMBP STAT3 STRADA SUFU SUPT16H SUZ12 TAC3 TACR3 TAF1 TAOK1 TAPT1 TARS1 TASP1 TBC1D24 TBCD TBCE TBL1XR1 TBR1 TBX1 TBX15 TBX2 TBX4 TCF12 TCF3 TCIRG1 TCOF1 TCTN1 TCTN2 TCTN3 TELO2 TENM3 TFAP2A TFAP2B TFE3 TGDS TGFB2 TGFB3 TGFBR1 TGFBR2 THOC2 THRA THSD4 THUMPD1 TLK2 TMCO1 TMEM107 TMEM138 TMEM147 TMEM216 TMEM231 TMEM237 TMEM53 TMEM67 TMEM94 TNFRSF11A TOGARAM1 TONSL TOPORS TP53RK TPM2 TPM3 TPRKB TRAPPC9 TRIM37 TRIO TRIP12 TRIP4 TRRAP TSR2 TTC26 TTC7A TUBA1A TUBB TWIST1 TWIST2 TXNDC15 TXNL4A UBE2A UBE2T UBE3B UBR7 UFD1 UMPS USB1 VAC14 VPS35L VPS51 VSX1 WAC WARS2 WASHC5 WDPCP WDR11 WDR35 WDR37 WDR4 WDR73 WNT5A WNT9B XRCC2 XYLT2 YWHAE ZBTB18 ZBTB24 ZEB2 ZIC1 ZIC2 ZIC3 ZMIZ1 ZMPSTE24 ZMYM2 ZMYND11 ZNF292 ZNF526 ZNF699 ZSWIM6

Diseases (832) :OMIM:614857 OMIM:264470 ORPHA:2971 ORPHA:171439 ORPHA:171433 ORPHA:91387 ORPHA:2995 OMIM:243310 ORPHA:79107 OMIM:614583 OMIM:618470 OMIM:609924 ORPHA:137754 ORPHA:124 OMIM:618154 ORPHA:2136 ORPHA:363528 OMIM:616503 OMIM:614300 OMIM:619297 OMIM:616368 ORPHA:93 ORPHA:412069 OMIM:615829 OMIM:300232 ORPHA:744 ORPHA:83473 OMIM:219150 OMIM:614105 OMIM:608540 ORPHA:324422 OMIM:300884 ORPHA:79320 ORPHA:79325 OMIM:608104 ORPHA:79328 OMIM:608776 OMIM:263210 OMIM:613456 ORPHA:306542 OMIM:136760 ORPHA:391474 OMIM:613451 ORPHA:228390 OMIM:609597 OMIM:300373 OMIM:619699 ORPHA:251066 ORPHA:1522 OMIM:123000 OMIM:148050 ORPHA:2332 ORPHA:2067 OMIM:230740 OMIM:619548 OMIM:614067 ORPHA:3258 ORPHA:261584 ORPHA:251056 OMIM:135900 ORPHA:567 OMIM:617796 ORPHA:97297 OMIM:605039 OMIM:617190 ORPHA:352577 OMIM:615485 ORPHA:357074 OMIM:278250 ORPHA:2834 OMIM:617403 ORPHA:79500 ORPHA:3473 OMIM:617402 ORPHA:847 OMIM:301040 OMIM:309580 ORPHA:352490 OMIM:615834 OMIM:125700 ORPHA:2725 OMIM:245600 ORPHA:709 OMIM:261540 ORPHA:79332 OMIM:130070 ORPHA:564 OMIM:615984 OMIM:619641 OMIM:617237 OMIM:618092 OMIM:301029 OMIM:300989 OMIM:619325 ORPHA:33110 OMIM:617822 ORPHA:261295 OMIM:608022 ORPHA:79076 ORPHA:93110 ORPHA:529962 OMIM:617755 ORPHA:1340 OMIM:115150 OMIM:613707 OMIM:163950 OMIM:613706 ORPHA:500 ORPHA:84 OMIM:617883 ORPHA:280679 OMIM:617333 OMIM:257300 OMIM:218340 ORPHA:1777 OMIM:618087 OMIM:614756 ORPHA:33364 OMIM:300422 OMIM:300749 ORPHA:163937 ORPHA:648 OMIM:613563 OMIM:235510 ORPHA:7 OMIM:300963 OMIM:619123 OMIM:618268 OMIM:618147 ORPHA:487796 OMIM:616737 OMIM:619841 ORPHA:2268 OMIM:616910 ORPHA:1997 OMIM:119580 ORPHA:1299 OMIM:211380 OMIM:619736 OMIM:618929 OMIM:617694 OMIM:617360 OMIM:618916 OMIM:243605 OMIM:608393 OMIM:616300 OMIM:618205 OMIM:617159 OMIM:214800 ORPHA:138 ORPHA:432 OMIM:615032 OMIM:253290 OMIM:612001 ORPHA:2990 OMIM:265000 OMIM:601776 ORPHA:2953 ORPHA:263463 OMIM:143095 OMIM:605282 OMIM:617090 OMIM:619512 OMIM:619173 OMIM:618541 OMIM:618672 OMIM:612540 ORPHA:163681 ORPHA:263508 OMIM:611209 ORPHA:2021 OMIM:154780 ORPHA:560 ORPHA:1899 ORPHA:1143 OMIM:615155 ORPHA:93346 ORPHA:94068 ORPHA:286 ORPHA:293843 OMIM:248340 OMIM:265050 OMIM:300887 ORPHA:2754 OMIM:277170 OMIM:617976 ORPHA:280 OMIM:194190 OMIM:180849 ORPHA:353277 OMIM:617062 ORPHA:397715 ORPHA:363611 OMIM:615502 OMIM:617681 ORPHA:281 OMIM:618142 ORPHA:314679 OMIM:601390 OMIM:271665 OMIM:300958 ORPHA:2919 OMIM:174300 OMIM:618653 ORPHA:819 OMIM:619573 ORPHA:818 OMIM:270400 OMIM:618731 OMIM:618272 OMIM:616788 OMIM:617052 OMIM:615879 ORPHA:404443 OMIM:242860 OMIM:614219 ORPHA:994 OMIM:618027 ORPHA:459061 OMIM:616901 OMIM:608799 ORPHA:79322 ORPHA:1675 OMIM:619435 OMIM:615539 ORPHA:3107 OMIM:180700 OMIM:616331 OMIM:616894 OMIM:617330 ORPHA:401973 ORPHA:35173 OMIM:619493 OMIM:617561 ORPHA:3447 OMIM:614437 ORPHA:1520 OMIM:304110 OMIM:610253 ORPHA:96147 OMIM:226980 OMIM:619376 OMIM:616875 ORPHA:353284 OMIM:614257 ORPHA:1493 OMIM:242840 OMIM:617180 OMIM:600775 ORPHA:207 ORPHA:75857 OMIM:216100 ORPHA:2319 ORPHA:3103 OMIM:268300 OMIM:619306 OMIM:618065 OMIM:616682 ORPHA:466926 OMIM:617425 OMIM:277590 ORPHA:93325 OMIM:259775 OMIM:227646 OMIM:614083 ORPHA:438178 OMIM:616154 OMIM:616006 OMIM:615546 OMIM:614185 ORPHA:2462 OMIM:618089 OMIM:615979 OMIM:305400 ORPHA:915 OMIM:149730 ORPHA:1848 ORPHA:90024 OMIM:615465 ORPHA:2117 OMIM:166250 ORPHA:2645 OMIM:101600 ORPHA:93258 OMIM:101200 ORPHA:87 OMIM:123790 OMIM:614592 OMIM:123500 ORPHA:1555 ORPHA:168624 ORPHA:313855 ORPHA:1540 ORPHA:93259 ORPHA:93260 OMIM:101400 ORPHA:794 OMIM:612247 ORPHA:93262 ORPHA:35099 ORPHA:53271 OMIM:602849 OMIM:606812 ORPHA:500095 OMIM:617107 OMIM:216340 ORPHA:3472 OMIM:610883 ORPHA:2308 OMIM:314400 ORPHA:555877 OMIM:305620 ORPHA:1826 OMIM:300048 ORPHA:2484 OMIM:309350 ORPHA:90650 ORPHA:90652 OMIM:311300 OMIM:304120 OMIM:300244 ORPHA:88630 ORPHA:1190 OMIM:108720 ORPHA:503 OMIM:150250 OMIM:272460 ORPHA:782 OMIM:602482 OMIM:265380 ORPHA:391372 OMIM:613670 OMIM:219000 ORPHA:2052 OMIM:248450 ORPHA:2717 OMIM:614485 OMIM:230000 ORPHA:93328 OMIM:619124 OMIM:618885 OMIM:217095 OMIM:615074 ORPHA:363686 OMIM:608013 OMIM:218400 ORPHA:2710 OMIM:612474 OMIM:307030 OMIM:230500 ORPHA:1486 ORPHA:36 ORPHA:380 OMIM:175700 ORPHA:672 ORPHA:3166 OMIM:269921 OMIM:252500 OMIM:252940 OMIM:619603 ORPHA:529665 ORPHA:373 OMIM:312870 ORPHA:2662 OMIM:301026 OMIM:619720 OMIM:619759 OMIM:619758 OMIM:619951 ORPHA:464282 ORPHA:98791 OMIM:619797 OMIM:300882 OMIM:620072 OMIM:616911 OMIM:617011 ORPHA:457359 OMIM:619983 OMIM:616977 ORPHA:94063 OMIM:300986 ORPHA:238769 OMIM:619026 OMIM:218040 OMIM:137550 OMIM:619194 OMIM:261515 ORPHA:800 OMIM:255800 OMIM:309590 OMIM:607014 OMIM:266920 OMIM:617866 OMIM:614188 OMIM:300143 OMIM:619750 OMIM:258480 ORPHA:508 OMIM:618571 OMIM:618572 OMIM:617925 ORPHA:60030 OMIM:619472 OMIM:611174 OMIM:613385 OMIM:614748 OMIM:191830 OMIM:118450 ORPHA:85201 ORPHA:89844 OMIM:616784 ORPHA:420561 OMIM:611816 OMIM:170390 ORPHA:37553 OMIM:618729 ORPHA:477993 OMIM:617127 ORPHA:261323 OMIM:200990 OMIM:607131 ORPHA:166024 ORPHA:66629 OMIM:605130 ORPHA:319182 OMIM:604321 ORPHA:221139 OMIM:613328 OMIM:615637 OMIM:609942 OMIM:617392 ORPHA:2065 OMIM:215140 OMIM:169400 ORPHA:235 ORPHA:2378 ORPHA:1662 OMIM:619179 OMIM:222448 ORPHA:2143 OMIM:212780 OMIM:614305 ORPHA:178377 OMIM:220111 OMIM:613506 OMIM:613177 OMIM:616564 OMIM:605275 OMIM:618325 ORPHA:1272 OMIM:601088 ORPHA:397941 OMIM:614202 ORPHA:309282 OMIM:619775 ORPHA:638 OMIM:157800 OMIM:617137 OMIM:619087 OMIM:618443 OMIM:616734 OMIM:616430 OMIM:257920 OMIM:156200 ORPHA:1596 ORPHA:93932 OMIM:300895 OMIM:305450 OMIM:618872 OMIM:618009 ORPHA:369891 OMIM:616789 ORPHA:464738 OMIM:616449 OMIM:619286 OMIM:613443 OMIM:614976 ORPHA:79329 OMIM:615673 ORPHA:2745 OMIM:300000 OMIM:617121 OMIM:249000 OMIM:259600 OMIM:618774 OMIM:252150 OMIM:252160 OMIM:618499 OMIM:618378 ORPHA:457485 OMIM:616638 OMIM:208150 ORPHA:2053 OMIM:300855 OMIM:619092 OMIM:614800 OMIM:619373 OMIM:256030 ORPHA:97685 ORPHA:363700 OMIM:162200 OMIM:601321 OMIM:193520 OMIM:618356 ORPHA:561 OMIM:615273 OMIM:613330 ORPHA:466791 ORPHA:955 ORPHA:2789 OMIM:130720 OMIM:613224 OMIM:619833 OMIM:117550 OMIM:619695 OMIM:617241 OMIM:620001 OMIM:611091 ORPHA:1507 OMIM:618529 OMIM:619075 ORPHA:544488 OMIM:311200 ORPHA:2750 OMIM:300209 OMIM:300997 OMIM:617729 OMIM:301056 ORPHA:329224 OMIM:615009 OMIM:618067 ORPHA:217385 OMIM:619859 OMIM:610832 OMIM:618437 OMIM:122880 ORPHA:1529 OMIM:193500 ORPHA:950 ORPHA:439822 OMIM:245349 OMIM:620021 OMIM:170100 ORPHA:742 OMIM:214100 OMIM:614866 OMIM:614882 OMIM:214110 OMIM:614862 OMIM:614863 ORPHA:247262 OMIM:615716 OMIM:618298 OMIM:256520 OMIM:617991 ORPHA:589905 OMIM:248700 OMIM:300868 OMIM:618580 ORPHA:488635 ORPHA:3474 OMIM:280000 ORPHA:2059 ORPHA:280633 OMIM:614080 OMIM:614749 OMIM:239300 OMIM:602501 ORPHA:3163 OMIM:119800 OMIM:618961 ORPHA:280229 ORPHA:79318 OMIM:614813 ORPHA:468678 OMIM:616364 ORPHA:1200 ORPHA:861 OMIM:618603 ORPHA:3455 OMIM:264090 OMIM:201750 ORPHA:2701 OMIM:617506 OMIM:618820 OMIM:619383 OMIM:618354 OMIM:616362 ORPHA:457284 OMIM:616355 OMIM:617711 OMIM:619909 OMIM:619143 OMIM:101800 ORPHA:464288 OMIM:619737 ORPHA:423479 OMIM:616038 ORPHA:284417 OMIM:617516 OMIM:109400 ORPHA:377 ORPHA:2658 OMIM:151050 OMIM:600002 OMIM:156400 OMIM:151100 ORPHA:456312 OMIM:616263 OMIM:612940 OMIM:614438 ORPHA:481152 OMIM:617982 OMIM:618577 OMIM:614701 OMIM:611554 OMIM:611553 ORPHA:1713 OMIM:618388 ORPHA:1587 OMIM:619690 ORPHA:2886 OMIM:311900 ORPHA:1225 OMIM:218600 OMIM:268400 OMIM:616975 ORPHA:1401 OMIM:263650 OMIM:615355 OMIM:300978 OMIM:607095 OMIM:619460 ORPHA:353298 OMIM:268310 OMIM:612528 OMIM:612561 OMIM:105650 ORPHA:192 OMIM:303600 ORPHA:276630 OMIM:612563 OMIM:618021 ORPHA:457395 OMIM:616723 OMIM:618402 OMIM:119600 ORPHA:1452 OMIM:617773 ORPHA:324581 OMIM:619542 ORPHA:959 OMIM:607323 OMIM:619317 OMIM:620107 ORPHA:50814 OMIM:607812 OMIM:616294 OMIM:618106 OMIM:616078 OMIM:269150 ORPHA:798 OMIM:619056 ORPHA:261197 ORPHA:137834 OMIM:249420 OMIM:606232 OMIM:607721 OMIM:619314 OMIM:618162 ORPHA:94065 OMIM:613406 ORPHA:488437 OMIM:182212 ORPHA:84064 OMIM:614602 OMIM:222470 OMIM:218000 ORPHA:447997 OMIM:612949 OMIM:612289 ORPHA:2095 ORPHA:56304 ORPHA:628 ORPHA:1782 ORPHA:3342 OMIM:208050 ORPHA:99843 OMIM:619525 OMIM:612350 OMIM:617532 ORPHA:284984 OMIM:613795 OMIM:139210 OMIM:619293 OMIM:618779 OMIM:603457 OMIM:616920 ORPHA:1553 OMIM:309583 ORPHA:3063 ORPHA:66631 OMIM:609528 ORPHA:177907 OMIM:610733 OMIM:616559 OMIM:122860 OMIM:269500 OMIM:618971 ORPHA:140 OMIM:114290 ORPHA:101000 OMIM:275900 OMIM:145420 ORPHA:1519 OMIM:619312 OMIM:270420 OMIM:618829 OMIM:611431 OMIM:619745 OMIM:619475 OMIM:612379 OMIM:614261 OMIM:147060 OMIM:611087 OMIM:617757 OMIM:619480 OMIM:618786 OMIM:300966 OMIM:619575 OMIM:616897 OMIM:618950 OMIM:220500 ORPHA:496641 OMIM:617193 ORPHA:93324 OMIM:244460 ORPHA:487825 OMIM:602342 ORPHA:1617 ORPHA:1727 OMIM:188400 ORPHA:93333 OMIM:618223 ORPHA:261279 OMIM:619824 OMIM:258860 ORPHA:2753 ORPHA:488642 OMIM:615145 OMIM:113620 OMIM:169100 ORPHA:46627 OMIM:301066 ORPHA:1388 OMIM:614816 OMIM:615582 OMIM:609192 OMIM:610168 ORPHA:457240 OMIM:614450 OMIM:619825 OMIM:619989 OMIM:618050 ORPHA:1394 OMIM:213980 OMIM:614465 OMIM:620075 OMIM:608091 ORPHA:2752 OMIM:614424 OMIM:619727 OMIM:216360 OMIM:618316 OMIM:619185 OMIM:271510 OMIM:617730 OMIM:617731 ORPHA:352530 OMIM:613192 OMIM:253250 OMIM:618825 OMIM:617061 OMIM:617752 OMIM:616866 OMIM:618454 OMIM:619534 OMIM:243150 OMIM:156610 OMIM:180750 OMIM:617746 OMIM:200110 ORPHA:1231 OMIM:209885 OMIM:619879 OMIM:608572 OMIM:300860 ORPHA:163956 OMIM:244450 OMIM:619189 ORPHA:30 OMIM:604173 OMIM:619135 OMIM:618606 OMIM:614195 OMIM:616708 ORPHA:466950 ORPHA:572798 OMIM:220210 OMIM:217085 OMIM:613610 OMIM:618652 OMIM:251300 ORPHA:85194 ORPHA:36367 OMIM:612337 OMIM:614069 OMIM:235730 ORPHA:261552 ORPHA:261537 OMIM:616602 OMIM:609637 OMIM:306955 OMIM:618659 OMIM:275210 OMIM:619522 OMIM:616083 OMIM:619188 OMIM:619877 OMIM:619488 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.