" /> Foveal hypoplasia 1 - CISMeF





Preferred Label : Foveal hypoplasia 1;

Symbol : FVH1;

CISMeF acronym : FVH1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract;

Description : Foveal hypoplasia, with its sequelae of subnormal visual acuity and congenital nystagmus, is usually a feature of a recognized ocular disorder such as albinism (203100) or aniridia (106210).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the paired box homeotic gene 6 (PAX6, 607108.0012);

Prefixed ID : #136520;

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27/07/2025


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