nuclear type mitochondrial complex I deficiency 9

info · Genetic

A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS6 gene on chromosome 5p15.33.

Signs and symptoms

Decreased activity of mitochondrial complex I
Lactic acidosis
Encephalopathy
Lethargy
Feeding difficulties
Hypoventilation
Severe muscular hypotonia
Nystagmus
Breathing dysregulation
Seizure

Also known as: MC1DN9