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Disease Ontology Browser
dystonia 28, childhood-onset (DOID:0060936)
Alliance: disease page
Synonyms: DYSTONIA 28, CHILDHOOD-ONSET; DYT28
Alt IDs: OMIM:617284, ICD10CM:G24.8, ORDO:589618, UMLS_CUI:C4310633
Definition: 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.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory