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foveal hypoplasia 1 | RareConnect | RareConnect.io

/foveal hypoplasia

/PAX6-related ocular dysgenesis

/foveal hypoplasia 1

foveal hypoplasia 1

Rare Disease

MONDO:0007628

Also Known As

PAX6 foveal hypoplasiafoveal hypoplasia 1foveal hypoplasia caused by mutation in PAX6foveal hypoplasia type 1FVH1O Donnell Pappas syndromefoveal hypoplasia 1 with or without anterior segment anomalies and/or cataractfoveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataractsfoveal hypoplasia, presenile cataract

Definition

Any foveal hypoplasia in which the cause of the disease is a mutation in the PAX6 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:136520 ↗

Related Diseases

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GPR143-related foveal hypoplasia

MONDO:0700230

foveal hypoplasia 3

MONDO:0975805

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