preferred_name: neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
preferred_name_lc: neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
label: MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome
label_lc: mthfs-related developmental delay-microcephaly-short stature-epilepsy syndrome