combined oxidative phosphorylation deficiency 17

A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ELAC2 gene on chromosome 17p12.

Signs and symptoms

• Decreased activity of mitochondrial complex I
• Hypertrophic cardiomyopathy
• Global developmental delay
• Hypotonia
• Congestive heart failure
• Lactic acidosis
• Intrauterine growth retardation
• Microcephaly
• Failure to thrive
• Sensorineural hearing impairment

Also known as: COXPD17