Cerebral Creatine Deficiency Syndrome 1 (SLC6A8)

Cerebral creatine deficiency syndrome 1 is an X-linked, pan-ethnic disease that is caused by pathogenic variants in the gene SLC6A8. Males are predominantly affected, but some females may display mild symptoms, including learning disabilities. Onset is during infancy, and clinical features include developmental delay and intellectual disability with behavioral abnormalities, including autistic and hyperactive behaviors. Patients may have seizures, facial dysmorphism and severe gastrointestinal and cardiac problems, particularly in adulthood. Life expectancy is not decreased, and no genotype-phenotype correlation has been noted.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):