/neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination

neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination

Rare Disease

MONDO:0032705

Also Known As

5,10-methenyltetrahydrofolate synthetase deficiencyMTHFS-related developmental delay-microcephaly-short stature-epilepsy syndromeNEDMEHMNEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION

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Associated Genes

MTHFS ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

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neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination

Also Known As

Patient-Friendly Information

Associated Genes

External Resources

OMIM

Orphanet

GARD

Related Diseases