Features include always present findings: Exaggerated startle response, Delayed CNS myelination, Short stature, and Seizure and others; and common findings: Hypertonia, Shrinkage of the cerebellum (cerebellar atrophy), Short femur, and Short humerus and others. 32 total HPO annotations.

MTHFS encodes methenyltetrahydrofolate synthetase (203 aa). Contributes to tetrahydrofolate metabolism. Highest expression in Liver (99.9 TPM) and Whole Blood (36.5 TPM).

Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination is associated with mutations in the MTHFS gene on chromosome 15.

The MTHFS protein participates in MTHFS transforms 5-formyl-THFPG to 5,10-methenyl-THFPG and Defective MTR does not transfer CH3 group from MTHF to cob(I)alamin pathways.

MTHFS is classified as a druggable target (Enzyme category) with score 0.0.

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

Biomarker and diagnostic research for neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination has been reported in the published literature.

Phenotype severity distribution: 10 always present features, 21 common features.

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

No clinical trials have been registered for neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination.

48 publications have been identified in PubMed for neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination. Research spans Review / Meta-Analysis (50%), Basic Science / Preclinical (25%), and Case Report / Case Series (13%).