Features include always present findings: Hypochromic microcytic anemia, Short stature, Seizure, and Global developmental delay and others; and very common findings: Dysplastic corpus callosum, Low muscle tone (hypotonia), Secondary microcephaly, and Recurrent fever and others. 18 total HPO annotations.

C2ORF69 encodes chromosome 2 open reading frame 69 (385 aa). May play a role in the respiratory chain Highest expression in Cells EBV-transformed lymphocytes (23.0 TPM) and Cells Cultured fibroblasts (21.0 TPM).

Combined oxidative phosphorylation deficiency 53 is associated with mutations in the C2ORF69 gene on chromosome 2.

C2ORF69 is classified as a druggable target with score 0.0.

Genetic testing for C2ORF69 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for combined oxidative phosphorylation deficiency 53 has been reported in the published literature.

Phenotype severity distribution: 6 always present features, 5 very common features, 4 common features.

No clinical trials have been registered for combined oxidative phosphorylation deficiency 53.

19 publications have been identified in PubMed for combined oxidative phosphorylation deficiency 53. Research spans Basic Science / Preclinical (42%), Review / Meta-Analysis (26%), and Case Report / Case Series (11%).