Term Name: foveal hypoplasia 1
Synonyms: foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract, foveal hypoplasia-presenile cataract syndrome, FVH1, O'Donnell-Pappas syndrome
Definition: A retinal disease characterized by foveal hypoplasia with decreased visual acuity, nystagmus and lack of aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.
Ontology: Human Disease [DOID:0070530]   ( DOID:0070530 )

Relationships
is a type of: autosomal dominant disease retinal disease