nuclear type mitochondrial complex I deficiency 1

info · Genetic

A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS4 gene on chromosome 5q11.2.

Signs and symptoms

Bilateral tonic-clonic seizure
Lethargy
Hypotonia
Undetectable visual evoked potentials
Hyperalaninemia
Decreased activity of mitochondrial complex III
Global developmental delay
Decreased activity of mitochondrial complex I
Cyanosis
Hypospadias

Also known as: MC1DN1