" /> Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination - CISMeF





Preferred Label : Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination;

Symbol : NEDMEHM;

CISMeF acronym : NEDMEHM;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 5,10-methenyltetrahydrofolate synthetase gene (MTHFS, 604197.0001);

Laboratory abnormalities : Low-normal CSF levels of 5-methyl-tetrahydrofolate (5-MTHF);

Prefixed ID : #618367;

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31/07/2025


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