Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | AARS1 CL E G H | 16 | 20 | OMIM:619691 | TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8 | | | | | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | AASS CL E G H | 10157 | 17366 | ORPHA:2203 | Hyperlysinemia | HP:0040283 - Occasional | | | 15 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:619719 | INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS | | | | 254 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | ACBD5 CL E G H | 91452 | 23338 | OMIM:618863 | RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD | | | | 1 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:219150 | Cutis laxa, autosomal recessive, type IIIA | . | | | 89 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | AP3D1 CL E G H | 8943 | 568 | OMIM:617050 | HERMANSKY-PUDLAK SYNDROME 10; HPS10 | | | | 1 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | ARCN1 CL E G H | 372 | 649 | OMIM:617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | . | | | 3 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | . | | | 219 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | ATP6AP1 CL E G H | 537 | 868 | OMIM:300972 | IMMUNODEFICIENCY 47; IMD47 | | | | 5 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | BLTP1 CL E G H | 84162 | 26953 | OMIM:617822 | Alkuraya-Kucinskas syndrome | . | | | | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | CAMK2A CL E G H | 815 | 1460 | OMIM:617798 | Mental retardation, autosomal dominant 53 | | | | 1 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | CCDC32 CL E G H | 90416 | 28295 | OMIM:619123 | CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS | | | | 1 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | CDK19 CL E G H | 23097 | 19338 | OMIM:618916 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87 | | | | | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 200 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | CDON CL E G H | 50937 | 17104 | OMIM:614226 | Holoprosencephaly 11 | | | | 200 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040281 - Very frequent | | | 200 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 200 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 200 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | CEP57 CL E G H | 9702 | 30794 | OMIM:614114 | Mosaic variegated aneuploidy syndrome 2 | | | | 17 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | | | | | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | CNOT1 CL E G H | 23019 | 7877 | OMIM:618500 | Holoprosencephaly 12 with or without pancreatic agenesis | . | | | 2 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | CNOT1 CL E G H | 23019 | 7877 | ORPHA:556955 | Pancreatic agenesis-holoprosencephaly syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | CNOT3 CL E G H | 4849 | 7879 | OMIM:618672 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF | | | | | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | COX14 CL E G H | 84987 | 28216 | OMIM:619053 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10 | | | | 4 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | DDB1 CL E G H | 1642 | 2717 | OMIM:619426 | WHITE-KERNOHAN SYNDROME; WHIKERS | | | | | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 22 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040281 - Very frequent | | | 22 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 22 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 22 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 3 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040281 - Very frequent | | | 3 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 3 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 3 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | DPM2 CL E G H | 8818 | 3006 | OMIM:615042 | Congenital disorder of glycosylation, type Iu | . | | | 26 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | DPM2 CL E G H | 8818 | 3006 | ORPHA:329178 | Congenital muscular dystrophy with intellectual disability and severe epilepsy | HP:0040283 - Occasional | | | 26 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | DPYSL5 CL E G H | 56896 | 20637 | OMIM:619435 | RITSCHER-SCHINZEL SYNDROME 4; RTSC4 | | | | | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | DYRK1A CL E G H | 1859 | 3091 | OMIM:614104 | Mental retardation, autosomal dominant 7 | | | | 134 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | EPG5 CL E G H | 57724 | 29331 | ORPHA:1493 | Vici syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | EVC CL E G H | 2121 | 3497 | OMIM:193530 | Weyers acrofacial dysostosis | . | | | 209 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | EVC2 CL E G H | 132884 | 19747 | OMIM:193530 | Weyers acrofacial dysostosis | . | | | 137 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | FARSB CL E G H | 10056 | 17800 | OMIM:613658 | Rajab interstitial lung disease with brain calcifications | | | | | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 17 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040281 - Very frequent | | | 17 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 17 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 17 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:615465 | Hartsfield syndrome | . | | | 172 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:3366 | Isolated trigonocephaly | HP:0040282 - Frequent | | | 172 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040281 - Very frequent | | | 172 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 172 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 172 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:190440 | Trigonocephaly 1 | . | | | 172 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | FKBP14 CL E G H | 55033 | 18625 | OMIM:614557 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | | | | 13 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 48 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040281 - Very frequent | | | 48 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 48 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 48 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | FREM1 CL E G H | 158326 | 23399 | ORPHA:3366 | Isolated trigonocephaly | HP:0040282 - Frequent | | | 198 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 2 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040281 - Very frequent | | | 2 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 2 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 2 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | GATA2 CL E G H | 2624 | 4171 | OMIM:614038 | Lymphedema, primary, with myelodysplasia | HP:0040283 - Occasional | | | 137 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040282 - Frequent | | | 68 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 173 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | GLI2 CL E G H | 2736 | 4318 | OMIM:615849 | Culler-Jones syndrome | HP:0040283 - Occasional | | | 173 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | | | | 173 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040281 - Very frequent | | | 173 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 173 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 173 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | GON7 CL E G H | 84520 | 20356 | OMIM:619603 | GALLOWAY-MOWAT SYNDROME 9; GAMOS9 | | | | | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | GPT2 CL E G H | 84706 | 18062 | OMIM:616281 | Mental retardation, autosomal recessive 49 | | | | 4 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | GPT2 CL E G H | 84706 | 18062 | ORPHA:477673 | Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | GSC CL E G H | 145258 | 4612 | OMIM:602471 | Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities | . | | | 3 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | GTF2H5 CL E G H | 404672 | 21157 | OMIM:616395 | Trichothiodystrophy 3, photosensitive | | | | 3 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | HNRNPH2 CL E G H | 3188 | 5042 | OMIM:300986 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB | | | | 3 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | HUWE1 CL E G H | 10075 | 30892 | OMIM:309590 | Mental retardation, x-linked syndromic, Turner type | | | | 98 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | IFT122 CL E G H | 55764 | 13556 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040282 - Frequent | | | 93 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | . | | | 93 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | IFT43 CL E G H | 112752 | 29669 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040282 - Frequent | | | 11 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | IFT52 CL E G H | 51098 | 15901 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040282 - Frequent | | | 4 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | | | | 283 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | KAT8 CL E G H | 84148 | 17933 | OMIM:618974 | LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS | | | | | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | KCTD1 CL E G H | 284252 | 18249 | OMIM:181270 | Scalp-Ear-Nipple syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | LAGE3 CL E G H | 8270 | 26058 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040283 - Occasional | | | | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | LIG4 CL E G H | 3981 | 6601 | OMIM:606593 | Lig4 syndrome | . | | | 88 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | . | | | 127 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | MSTO1 CL E G H | 55154 | 29678 | ORPHA:502423 | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | HP:0040282 - Frequent | | | | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | MSX2 CL E G H | 4488 | 7392 | OMIM:604757 | Craniosynostosis 2 | HP:0040283 - Occasional | | | 45 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | NARS1 CL E G H | 4677 | 7643 | OMIM:619091 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG | | | | | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | NDE1 CL E G H | 54820 | 17619 | ORPHA:2177 | Hydranencephaly | HP:0040282 - Frequent | | | 96 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:649 | Norrie disease | HP:0040281 - Very frequent | | | 39 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | HP:0040283 - Occasional | | | 1952 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | NIN CL E G H | 51199 | 14906 | ORPHA:319675 | Microcephalic primordial dwarfism, Dauber type | HP:0040282 - Frequent | | | 55 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | NIN CL E G H | 51199 | 14906 | OMIM:614851 | Seckel syndrome 7 | . | | | 55 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 45 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040281 - Very frequent | | | 45 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 45 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 45 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | NSUN2 CL E G H | 54888 | 25994 | OMIM:611091 | Mental retardation, autosomal recessive 5 | . | | | 84 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | NTNG2 CL E G H | 84628 | 14288 | OMIM:618718 | NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH | | | | | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | NUP107 CL E G H | 57122 | 29914 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | NUP133 CL E G H | 55746 | 18016 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | OPHN1 CL E G H | 4983 | 8148 | OMIM:300486 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | . | | | 55 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | OSGEP CL E G H | 55644 | 18028 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040283 - Occasional | | | | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | PAH CL E G H | 5053 | 8582 | ORPHA:2209 | Maternal phenylketonuria | HP:0040284 - Very rare | | | 641 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:439822 | PDE4D haploinsufficiency syndrome | HP:0040283 - Occasional | | | 113 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | PLCH1 CL E G H | 23007 | 29185 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | PPP1R15B CL E G H | 84919 | 14951 | OMIM:616817 | Microcephaly, short stature, and impaired glucose metabolism 2 | HP:0040283 - Occasional | | | 2 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | PPP1R15B CL E G H | 84919 | 14951 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | PRKAR1B CL E G H | 5575 | 9390 | OMIM:619680 | MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS | | | | 2 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | PROKR2 CL E G H | 128674 | 15836 | OMIM:244200 | Hypogonadotropic hypogonadism 3 with or without anosmia | . | | | 34 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | PRPS1 CL E G H | 5631 | 9462 | OMIM:300661 | Phosphoribosylpyrophosphate synthetase superactivity | | | | 49 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 665 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:610828 | Holoprosencephaly 7 | | | | 665 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040281 - Very frequent | | | 665 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 665 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 665 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | PYCR1 CL E G H | 5831 | 9721 | OMIM:612940 | Cutis laxa, autosomal recessive, type IIB | HP:0040283 - Occasional | | | 53 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | QARS1 CL E G H | 5859 | 9751 | OMIM:615760 | Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy | . | | | | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:1387 | Cataract-intellectual disability-hypogonadism syndrome | HP:0040282 - Frequent | | | 90 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:1387 | Cataract-intellectual disability-hypogonadism syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | RAD21 CL E G H | 5885 | 9811 | OMIM:614701 | Cornelia de Lange syndrome 4 | | | | 25 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:1225 | Baller-Gerold syndrome | HP:0040283 - Occasional | | | 445 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | RERE CL E G H | 473 | 9965 | OMIM:616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | | | | 16 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | RLIM CL E G H | 51132 | 13429 | OMIM:300978 | Tonne-Kalscheuer syndrome | . | | | 7 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | HP:0040283 - Occasional | | | 113 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | SEPTIN9 CL E G H | 10801 | 7323 | OMIM:162100 | Amyotrophy, hereditary neuralgic | . | | | | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 67 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | SHH CL E G H | 6469 | 10848 | OMIM:142945 | Holoprosencephaly 3 | . | | | 67 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040281 - Very frequent | | | 67 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 67 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 67 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | SHH CL E G H | 6469 | 10848 | OMIM:147250 | Solitary median maxillary central incisor | | | | 67 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | SHPK CL E G H | 23729 | 1492 | ORPHA:440713 | Isolated sedoheptulokinase deficiency | HP:0040282 - Frequent | | | 2 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 32 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | SIX3 CL E G H | 6496 | 10889 | OMIM:157170 | Holoprosencephaly 2 | . | | | 32 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040281 - Very frequent | | | 32 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 32 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 32 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | SLC35A1 CL E G H | 10559 | 11021 | OMIM:603585 | Congenital disorder of glycosylation, type IIf | . | | | 24 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | SMC1A CL E G H | 8243 | 11111 | OMIM:301044 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85 | | | | 135 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 135 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040283 - Occasional | | | 37 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | SRC CL E G H | 6714 | 11283 | OMIM:616937 | Thrombocytopenia 6 | | | | 15 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 1 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 1 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 99 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040281 - Very frequent | | | 99 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 99 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 99 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:185070 | Stormorken syndrome | . | | | 31 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 124 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 1 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040281 - Very frequent | | | 1 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 1 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 1 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 32 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | TGIF1 CL E G H | 7050 | 11776 | OMIM:142946 | Holoprosencephaly 4 | . | | | 32 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040281 - Very frequent | | | 32 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 32 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 32 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | TP53RK CL E G H | 112858 | 16197 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040283 - Occasional | | | | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | TPRKB CL E G H | 51002 | 24259 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040283 - Occasional | | | | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | TRAPPC9 CL E G H | 83696 | 30832 | OMIM:613192 | Mental retardation, autosomal recessive 13 | HP:0040283 - Occasional | | | 158 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | TRMT10A CL E G H | 93587 | 28403 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | . | | | 2 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | TWIST1 CL E G H | 7291 | 12428 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040283 - Occasional | | | 18 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | USP9X CL E G H | 8239 | 12632 | OMIM:300968 | Mental retardation, X-linked 99, syndromic, female-restricted | | | | 27 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040282 - Frequent | | | 95 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040282 - Frequent | | | 136 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | WDR4 CL E G H | 10785 | 12756 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040283 - Occasional | | | | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | WDR73 CL E G H | 84942 | 25928 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | | | | 9 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 34 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | ZIC2 CL E G H | 7546 | 12873 | OMIM:609637 | Holoprosencephaly 5 | | | | 34 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040281 - Very frequent | | | 34 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 34 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 34 | | |
HP:0000601 | HP:0000601 | Hypotelorism | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |