Term Name: foveal hypoplasia 2
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 )

Relationships
is a type of: autosomal recessive disease retinal disease