label: Multiple Mitochondrial Dysfunctions Syndrome Type 3
label_lc: multiple mitochondrial dysfunctions syndrome type 3
description: "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."