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GENATLAS PHENOTYPE
last update : 26-02-2015
Symbol COQ10D3
Location 6q21
Name coenzyme Q10 deficiency 3
Corresponding gene PDSS2
Main clinical features progressive muscle weakness, abnormal fatigability, and central nervous system dysfunction since early childhood, nephropathy, learning disability and epileptiform abnormalities on EEG, with a learning disability and epileptiform abnormalities on EEG, progressive cerebellar symptoms, and episodic myoglobinuria; measurement of skeletal muscle mitochondria coenzyme Q10 (CoQ10) severely reduced
Genetic determination autosomal recessive
Function/system disorder neurology
neuromuscular
multisystem/generalized
Type disease
Remark(s)