mitochondrial complex IV deficiency nuclear type 16

A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX4I1 gene on chromosome 16q24.1.

Signs and symptoms

• Decreased body weight
• Short stature
• Cerebellar atrophy
• Generalized hypotonia
• Elevated CSF fumarate concentration
• Failure to thrive
• Cerebral atrophy
• Delayed skeletal maturation
• Developmental regression
• Chromosomal breakage induced by crosslinking agents

Also known as: MC4DN16