combined oxidative phosphorylation defect type 21
Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.
MONDO:0000732
combined oxidative phosphorylation deficiency
is_a
COXPD21
exact
TARS2 combined oxidative phosphorylation deficiency
exact
combined oxidative phosphorylation deficiency 21
related
combined oxidative phosphorylation deficiency caused by mutation in TARS2
exact
combined oxidative phosphorylation deficiency type 21
exact
SPAC24C9.09