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General Information
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| Term |
dystonia 28, childhood-onset |
ID (Ontology) |
DOID:0060936 (Human Disease) |
| 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. |
| Also Known As |
"DYSTONIA 28, CHILDHOOD-ONSET" ; "DYT28" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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dystonia 28, childhood-onset | 1 | for disease ribbon | dystonia 28, childhood-onset | 1 | model of | dystonia 28, childhood-onset | 1 |
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Relationships