Features include always present findings: Progressive neurologic deterioration, Poor head control, Hypothermia, and Decreased liver function and others; and common findings: Generalized hypotonia, Myoclonic seizure, Axial hypotonia, and Secondary microcephaly and others.

MICOS13 encodes mitochondrial contact site and cristae organizing system subunit 13 (118 aa). Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Highest expression in Testis (169.5 TPM) and Cells Cultured fibroblasts (88.7 TPM).

Combined oxidative phosphorylation deficiency 37 is associated with mutations in the MICOS13 gene on chromosome 19.

MICOS13 is classified as a druggable target with score 0.0.

Genetic testing for MICOS13 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for combined oxidative phosphorylation deficiency 37 has been reported in the published literature.

Phenotype severity distribution: 29 always present features, 7 common features.

No clinical trials have been registered for combined oxidative phosphorylation deficiency 37.

47 publications have been identified in PubMed for combined oxidative phosphorylation deficiency 37. Research spans Basic Science / Preclinical (49%), Diagnostic / Biomarker (11%), and Clinical Trial Publication (11%).