Disease #00472

Official abbreviation OAS
Name oculo-auricular syndrome (OAS)
OMIM ID 612109
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene HMX1
Associated tissues -
Disease features -
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Individuals

1 entry on 1 page. Showing entry 1.
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00018566 - - 2 patients (cousins) M yes (Pakistan) Asian - 0 - - OAS microphthalmia, microcornea, sclerocornea, posterior embryotoxon, congenital cataract, iris coloboma, uveoretinal coloboma, early-onset retinal dystrophy, dysplastic optic discs, low-set ears, malformation of the external ear cartilage HMX1 HMX1 1 2 Rachel Gillespie
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