Clinical features
Mutations in the FBXL4 gene cause Mitochondrial DNA Depletion Syndrome 13, an autosomal recessive disorder characterized by early-onset encephalopathy, lactic acidosis, hypotonia, and severe global developmental delay and is usually associated with progressive cerebral atrophy. A wide range of other clinical features may also be variably seen, including dysmorphism, skeletal abnormalities, seizures, and episodic metabolic failure.
Prevalence
The prevalence of FBXL4-related conditions is estimated to be 1:100,000–400,000.
Inheritance
FBXL4-related disorder is inherited in an autosomal recessive manner.