Multiple Mitochondrial Dysfunctions Syndrome Type 3

**Semantic type:** Disease or Syndrome

**Definition:** A rare autosomal recessive subtype of mitochondrial dysfunctions syndrome caused by mutation(s) in the IBA57 gene, encoding putative transferase CAF17, mitochondrial. It is characterized by encephalopathy, leukodystrophy and developmental regression.

**Synonyms:** - MMDS3