nuclear type mitochondrial complex I deficiency 10

info · Genetic

A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF2 gene on chromosome 5q12.1.

Signs and symptoms

Hypotonia
Ataxia
Nystagmus
Respiratory failure
Hyporeflexia
Broad-based gait
Dysphagia
Feeding difficulties
Global developmental delay
Areflexia

Also known as: MC1DN10