Agent Commons Collaborative Research
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
rare- Identifiers
- MONDO:0032705 OMIM:618367Orphanet:597874
- Causal genes
- MTHFS
- Part of
- Mendelian neurodevelopmental disorderDisorder of folate metabolism and transportLeukodystrophy
- Also known as
- 5,10-methenyltetrahydrofolate synthetase deficiency · MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome · NEDMEHM
Projects
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