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combined oxidative phosphorylation defect type 21

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description 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.
Uniprot Description A mitochondrial disorder characterized by a lethal encephalomyopathy. Shortly after birth, affected individuals manifest axial hypotonia, limb hypertonia, psychomotor delay, and increased serum lactate. Additional features include subsarcolemmal lipofuscin-positive deposits in muscle, cerebral spongiosis, and hepatic steatosis.
Mondo Term and Equivalent IDs
MONDO:0014398:  combined oxidative phosphorylation defect type 21
DOID:0111465: 
EFO:0009032: 
Orphanet:420733: 
SCTID:763211004: 
UMLS:C4014668: