Cerebral Creatine Deficiency Syndrome 3 (GATM)
Cerebral creatine deficiency syndrome 3 (CCDS3) is an autosomal recessive disorder caused by pathogenic variants in the gene GATM. Symptoms include developmental delay, mental retardation, language impairment, autistic behavior, and intellectual disability, as well as the development of myopathy characterized by muscle weakness and atrophy later in life. This disorder can also be associated with seizures, ataxia, and behavioral problems such as hyperactivity and self-mutilation. Although the life expectancy for this disorder is normal, several of the associated symptoms can have an impact on life span.
For information about carrier frequency and residual risk, please see the residual risk table.