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GENATLAS PHENOTYPE

last update : 02 /07/2008

Symbol	COX6B1D
Location	19p13.1
Name	COX6B1 deficiency
Corresponding gene	COX6B1
Main clinical features	early-onset leukodystrophic encephhalopathy, myopathy , growth retardation, muscle weakness, pain, cognitive dterioration, and visual loss . absent VEP, abnormal EMG, on MRI, progressive diffuse leukodystrophic changes in the cerebellum, and supratentorial white matter . death in infancy . deficiency of complex IV
Genetic determination
Function/system disorder
Type	disease