Cerebral Creatine Deficiency Syndrome 3

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the GATM gene, encoding glycine amidinotransferase, mitochondrial. The resulting enzyme deficiency is characterized by developmental delay, intellectual disability, and severe impairment of speech.

**Synonyms:** - CCDS3 - GATM Deficiency