Features include always present findings: Lactic acidosis and Increased circulating lactate concentration; and very common findings: Global developmental delay. 31 total HPO annotations.

MRPS34 encodes mitochondrial ribosomal protein S34 (218 aa). Required for mitochondrial translation, plays a role in maintaining the stability of the small ribosomal subunit and the 12S rRNA that are required for mitoribosome formation Highest expression in Cells EBV-transformed lymphocytes (155.2 TPM) and Cells Cultured fibroblasts (140.7 TPM).

Combined oxidative phosphorylation deficiency 32 is associated with mutations in the MRPS34 gene on chromosome 16.

MRPS34 is classified as a druggable target with score 0.0.

Genetic testing for MRPS34 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for combined oxidative phosphorylation deficiency 32 has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 1 very common feature, 14 common features.

No clinical trials have been registered for combined oxidative phosphorylation deficiency 32.

34 publications have been identified in PubMed for combined oxidative phosphorylation deficiency 32. Research spans Basic Science / Preclinical (65%), Review / Meta-Analysis (18%), and Diagnostic / Biomarker (6%).