Cerebral Creatine Deficiency Syndrome 1

**Semantic type:** Disease or Syndrome

**Definition:** A rare X-linked inherited disorder. It is caused by mutations in the SLC6A8 gene resulting in the absence of a compound needed to transport creatine into cells. It manifests with intellectual disability, seizures, short stature, and midface hypoplasia.

**Synonyms:** - CCDS1 - X-Linked Creatine Transporter Deficiency