Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX6B1 gene.
Comprehensive, easy-to-understand information about this condition
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pancreatic insufficiency-anemia-hyperostosis syndrome
MONDO:0012992
mitochondrial complex IV deficiency, nuclear type 3
MONDO:0033635
mitochondrial complex IV deficiency, nuclear type 4
MONDO:0033636
mitochondrial complex IV deficiency, nuclear type 8
MONDO:0033638
mitochondrial complex IV deficiency, nuclear type 10
MONDO:0033639
mitochondrial complex IV deficiency, nuclear type 11
MONDO:0033645