foveal hypoplasia 2 (DOID:0070531)
Alliance: disease page
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
Alt IDs: OMIM:609218, ORDO:397618, UMLS_CUI:C5190596
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.