Vesicular neutral amino acid transporter 3 deficiency

Synonym(s)
- Autosomal recessive intellectual disability type 48
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- SLC6A17 / solute carrier family 6 member 17
  1p13.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Sodium- and chloride-dependent neurotransmitter transporter
Disease group(s)
- 1.11 Disorders of amino acid transport