Conditions / Genetic
nuclear type mitochondrial complex I deficiency 19
info · Genetic
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FOXRED1 gene on chromosome 11q24.2.
Signs and symptoms
- Inability to walk
- Cerebellar atrophy
- Hypotonia
- Irritability
- Cerebral visual impairment
- Lactic acidosis
- Absent speech
- Global developmental delay
- Secondary microcephaly
- Decreased activity of mitochondrial complex I
Also known as: MC1DN19