DO_rare_slim has material basis in autosomal dominant disease dystonia 28, childhood-onset DOID:0060936 UMLS_CUI:C4310633 DYT28 MIM:617284 ORDO:589618 SNOMEDCT_US_2025_09_01:1281844004 disease_ontology A dystonia characterized by onset of progressive dystonia in the first decade of life resulting in gait upper limbs, neck, and orofacial region difficulties, elongated face with bulbous nose, some have abnormal eye movements and potential delayed motor and/or cognitive development with mild intellectual disability that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19p13. DYSTONIA 28, CHILDHOOD-ONSET dystonia autosomal dominant inheritance