Term Name: | foveal hypoplasia 2 |
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Synonyms: | FHONDA, FHONDA syndrome, foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis, foveal hypoplasia, optic nerve decussation defects, and anterior segment dysgenesis, FVH2 |
Definition: | A retinal disease characterized by foveal hypoplasia with decreased visual acuity and nystagmus that has_material_basis_in homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23.3. Optic nerve decussation defects and anterior segment dysgenesis are also frequently seen. |
Ontology: | Human Disease [DOID:0070531] ( DOID:0070531 ) |