nuclear type mitochondrial complex I deficiency 3

info · Genetic

A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS7 gene on chromosome 19p13.3.

Signs and symptoms

Encephalopathy
Lethargy
Developmental regression
Dystonia
Seizure
Feeding difficulties
Dysarthria
Episodic vomiting
Ataxia
Hepatomegaly

Also known as: MC1DN3