Details of Disease | DrugMAP

General Information of Disease (ID: DISTL979)

Disease Name	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
Synonyms	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION; MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome; NEDMEHM
Disease Hierarchy	DISVY1TT: Leukodystrophy DISYOKTG: Mendelian neurodevelopmental disorder DISSPA57: Disorder of folate metabolism and transport DISTL979: Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
Disease Identifiers	MONDO ID MONDO_0032705 UMLS CUI C5193057 OMIM ID 618367 MedGen ID 1684142 Orphanet ID 597874

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MTHFS	OTZ39JNR	Strong	Autosomal recessive	[1]
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References

1	5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. Mol Genet Metab. 2018 Sep;125(1-2):118-126. doi: 10.1016/j.ymgme.2018.06.006. Epub 2018 Jun 15.