nuclear type mitochondrial complex I deficiency 2

info · Genetic

A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS8 gene on chromosome 11q13.2.

Signs and symptoms

Dystonia
Hypotonia
Vertical nystagmus
Apneic episodes in infancy
Ventriculomegaly
Brisk reflexes
Primitive reflex
Increased circulating pyruvate concentration
Feeding difficulties
Dysarthria

Also known as: MC1DN2