combined oxidative phosphorylation deficiency 11

A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has_material_basis_in homozygous or compound heterozygous mut

A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has_material_basis_in homozygous or compound heterozygous mutation in the RMND1 gene on chromosome 6q25.1.

Signs and symptoms

• Renal insufficiency
• Respiratory failure
• Lactic acidosis
• Increased circulating lactate concentration
• Generalized hypotonia
• Hepatic steatosis
• Hearing impairment
• Decreased liver function
• Renal hypoplasia
• Seizure

Also known as: COXPD11; infantile encephaloneuromyopathy due to mitochondrial translation defect