mitochondrial complex IV deficiency, nuclear type 19
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.
MONDO:0033885
mitochondrial complex IV deficiency, nuclear-type
is_a
MC4DN19
exact
mitochondrial complex IV deficiency, nuclear type 19
exact
SPBC1604.25