Features include always present findings: Low muscle tone (hypotonia), Widened subarachnoid space, Intellectual disability, and Increased circulating lactate concentration and others; and common findings: Hypertonia, Narrow forehead, Clonus, and Short stature and others.

DTYMK encodes deoxythymidylate kinase (212 aa). Catalyzes the phosphorylation of thymidine monophosphate (dTMP) to thymidine diphosphate (dTDP), the immediate precursor for the DNA building block dTTP, with ATP as the preferred phosphoryl donor in ... Highest expression in Cells EBV-transformed lymphocytes (53.7 TPM) and Cells Cultured fibroblasts (44.4 TPM).

Neurodegeneration, childhood-onset, with progressive microcephaly is associated with mutations in the DTYMK gene on chromosome 2.

The DTYMK protein participates in dUMP or TMP + ATP dUDP or TDP + ADP [DTYMK] and dUDP or TDP + ADP dUMP or TMP + ATP [DTYMK] pathways.

DTYMK is classified as a druggable target (Kinase category) with score 2.2.

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

Phenotype severity distribution: 6 always present features, 34 common features.

No clinical trials have been registered for neurodegeneration, childhood-onset, with progressive microcephaly.

1 publication has been identified in PubMed for neurodegeneration, childhood-onset, with progressive microcephaly. Research spans Case Report / Case Series (100%).

Recent Publications

• Raúl HC (2025). [PMID: 40696808](https://pubmed.ncbi.nlm.nih.gov/40696808/). *American journal of medical genetics. Part A*. [Case Report / Case Series]