mitochondrial complex III deficiency nuclear type 4

A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRQ gene on chromosome 5q31.

Signs and symptoms

• Axial hypotonia
• Inability to walk
• Dystonia
• Decreased activity of mitochondrial complex III
• Global developmental delay
• Increased circulating lactate concentration
• Ataxia
• Abnormality of extrapyramidal motor function
• Severe intellectual disability
• Restlessness