has material basis in germline mutation in SLC38A8 syndromic disease foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 https://github.com/monarch-initiative/mondo/issues/6752 https://www.malacards.org/card/foveal_hypoplasia_2 MEDGEN:814203 DOID:0070531 GARD:0017632 MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome FVH2 FHONDA syndrome foveal hypoplasia 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis MESH:C563774 Orphanet:397618 foveal hypoplasia 2 foveal hypoplasia type 2 foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218 UMLS:C3807873 inborn disorder of amino acid transport hereditary optic neuropathy foveal hypoplasia