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dystonia 28 childhood-onset
Summary
- Synonym
-
- DYSTONIA 28, CHILDHOOD-ONSET
- DYT28
- 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.
- Super Class
- autosomal dominant disease dystonia
External Links
- Disease Ontology
- DOID:0060936
- Mondo Disease Ontology
- ORDO
- OMIM
