creatine transporter deficiency

Findings

No curated finding names creatine transporter deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

X-linked recessive inheritance

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• cerebral creatine deficiency syndrome
• developmental anomaly of metabolic origin
• multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Resolves to: creatine transporter deficiency

Also called

cerebral creatine deficiency syndrome 1cerebral creatine deficiency syndrome 1, X-linked recessivecerebral creatine deficiency syndrome type 1SLC6A8 deficiency