Disease association ontology term - MONDO:0033654 - mitochondrial complex IV deficiency, nuclear type 19
Term summary
- ID
- MONDO:0033654
- Name
- mitochondrial complex IV deficiency, nuclear type 19
- Ontology or CV name
- Disease association
- Definition
- 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.
