Lysosomal cationic amino acid transporter deficiency

(RP68)

Synonym(s)
- Retinitis pigmentosa type 68
Type

Disease
External link(s)
- IEMbase
Gene
- SLC7A14 / solute carrier family 7 member 14
  3q26.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Amino acid transporter
Disease group(s)
- 1.11 Disorders of amino acid transport