Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the PET117 gene. It is characterized by the onset of symptoms in infancy or early childhood. Affected individuals show global developmental delay and developmental regression with a loss of acquired motor and language skills. Additional features include motor dysfunction, such as hypokinesia and pyramidal signs. More variable features may include recurrent infections with immunodeficiency and possibly protein-losing enteropathy.
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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 7
MONDO:0033637
mitochondrial complex IV deficiency, nuclear type 8
MONDO:0033638
mitochondrial complex IV deficiency, nuclear type 10
MONDO:0033639