neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
MONDO:0017313
disorder of folate metabolism and transport
is_a
MONDO:0019046
leukodystrophy
is_a
MONDO:0100500
Mendelian neurodevelopmental disorder
is_a
5,10-methenyltetrahydrofolate synthetase deficiency
exact
MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome
exact
NEDMEHM
exact
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION
exact
SPBC1703.08c