Neuronal system A amino acid transporter deficiency

Synonym(s)
- Foveal hypoplasia type 2 with or without optic nerve misrouting and/or anterior segment dysgenesis
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- SLC38A8 / Solute Carrier Family 38 Member 8
  16q23.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Sodium-coupled neutral amino acid transporter 8
Disease group(s)
- 1.11 Disorders of amino acid transport