Conditions / Genetic
nuclear type mitochondrial complex I deficiency 7
info · Genetic
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV2 gene on chromosome 18p11.22.
Signs and symptoms
- Encephalopathy
- Axial hypotonia
- Feeding difficulties
- Decreased activity of mitochondrial complex I
- Failure to thrive
- Hypertrophic cardiomyopathy
- Lactic acidosis
- Microcephaly
- Developmental regression
- Generalized hypotonia
Also known as: MC1DN7