combined oxidative phosphorylation defect type 23
Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the GTPBP3 gene.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0000732
combined oxidative phosphorylation deficiency
is_a
COXPD23
exact
GTPBP3 combined oxidative phosphorylation deficiency
exact
combined oxidative phosphorylation deficiency 23
related
combined oxidative phosphorylation deficiency caused by mutation in GTPBP3
exact
combined oxidative phosphorylation deficiency type 23
exact
SPAC222.05c