ASCT1 transporter deficiency

Synonym(s)
- Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- SLC1A4 / Solute Carrier Family 1 Member 4
  2p14
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Glutamate transporter
Disease group(s)
- 1.11 Disorders of amino acid transport