foveal hypoplasia 2

Term ID

DOID:0070531

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. (3)

References

• OMIM:609218
• ORDO:397618
• SNOMEDCT_US_2023_03_01:782754006
• UMLS_CUI:C5190596

Ontology

Human Disease   ( DOID:0070531 )