Conditions / Genetic
mitochondrial complex III deficiency nuclear type 8
info · Genetic
A mitochondrial complex III deficiency characterized by childhood onset of progressive neurodegeneration that has_material_basis_in homozygous mutation in the LYRM7 gene on chromosome 5q23.
Signs and symptoms
- Global brain atrophy
- Generalized hypotonia
- Thin corpus callosum
- Anemia
- Abnormal periventricular white matter morphology
- Respiratory failure
- Brisk reflexes
- Intellectual disability
- Lactic acidosis
- Babinski sign