Conditions / Genetic
nuclear type mitochondrial complex I deficiency 31
info · Genetic
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMMDC1 gene on chromosome 3q13.33.
Signs and symptoms
- Global developmental delay
- Hypotonia
- Decreased activity of mitochondrial complex I
- Skeletal muscle atrophy
- Failure to thrive
- Feeding difficulties in infancy
- Progressive neurologic deterioration
- Dysmetria
- Seizure
- Enlarged cisterna magna
Also known as: MC1DN31