ORPHA:565624
Combined oxidative phosphorylation defect type 39
Also called COXPD39, GFM2-related combined oxidative phosphorylation defect
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Antenatal, Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:565624 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Abnormal corpus callosum morphology
- Abnormal cerebellum morphology
- Cerebellar hypoplasia
- Absent speech
- Bradycardia
- Poor head control