Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination

MONDO:0032705

Also known as: 5,10-methenyltetrahydrofolate synthetase deficiency, MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome, NEDMEHM, NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION

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Broader categories

Disease (717) Nervous system disorder (243) Metabolic disease (241) Hereditary disease (188) Neurodegenerative disease (182) Neurodevelopmental disorder (154) Central nervous system disorder (115) Inborn errors of metabolism (47) Human disease (15) Inherited neurodegenerative disorder (10)

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