Terminology Service for NFDI4Health
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X-Linked Creatine Transporter Deficiency

Go to external page http://purl.obolibrary.org/obo/NCIT_C125665

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. [ ]

Term info

Label

X-Linked Creatine Transporter Deficiency

Synonyms
  • X-Linked Creatine Transporter Deficiency
Preferred Name

X-Linked Creatine Transporter Deficiency

Semantic Type

Disease or Syndrome

UMLS CUI

C1845862

code

C125665