multiple mitochondrial dysfunctions syndrome 5 (DOID:0080274)
Alliance: disease page
Alt IDs: OMIM:617613
Definition: A multiple mitochondrial dysfunctions syndrome that is characterized by progressive neurologic deterioration beginning in early infancy, with affected individuals having no psychomotor development and early-onset seizures with neurologic decline and spasticity, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly 1 gene on chromosome 9q21.