| Metadata | |
|---|---|
| ID | DOID:0060936 |
| Name | dystonia 28, childhood-onset |
| 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. https://pubmed.ncbi.nlm.nih.gov/27992417/, https://pubmed.ncbi.nlm.nih.gov/27839873/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
DYSTONIA 28, CHILDHOOD-ONSET [EXACT] DYT28 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a dystonia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |