preferred_name: neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
preferred_name_lc: neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
label: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 22
label_lc: glycosylphosphatidylinositol biosynthesis defect 22