Creatine transporter deficiency

Synonym(s)
- Cerebral creatine deficiency syndrome type 1
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- SLC6A8 / creatine transporter
  Xq28
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Creatine transporter
Pathway
- Creatin metabolism
Disease group(s)
- 5.3 Disorders of creatine metabolism