Features include always present findings: Shrinkage of the cerebellum (cerebellar atrophy), Elevated brain lactate level by MRS, Reduced brain N-acetyl aspartate level by MRS, and Type I diabetes mellitus and others; and common findings: Brain shrinkage (cerebral atrophy), Sideways curvature of the spine (scoliosis), Babinski sign, and Ankle clonus and others. 35 total HPO annotations.

GFM2 encodes GTP dependent ribosome recycling factor mitochondrial 2 (779 aa). Mitochondrial GTPase that mediates the disassembly of ribosomes from messenger RNA at the termination of mitochondrial protein biosynthesis. Acts in collaboration with MRRF. Highest expression in Cells Cultured fibroblasts (34.3 TPM) and Cells EBV-transformed lymphocytes (33.5 TPM).

Combined oxidative phosphorylation deficiency 39 is associated with mutations in the GFM2 gene on chromosome 5.

The GFM2 protein participates in Hydrolysis of GTP and dissociation of 28S and 39S subunits, Mitochondrial translation termination, and Mitochondrial translation pathways.

GFM2 is classified as a druggable target (Druggable Genome category) with score 0.0.

Genetic testing for GFM2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for combined oxidative phosphorylation deficiency 39 has been reported in the published literature.

Phenotype severity distribution: 13 always present features, 6 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for combined oxidative phosphorylation deficiency 39.

31 publications have been identified in PubMed for combined oxidative phosphorylation deficiency 39. Research spans Basic Science / Preclinical (48%), Diagnostic / Biomarker (19%), and Case Report / Case Series (13%).