Version: 8.0.0
Date: Tue Jan 28 2025
dystonia 28, childhood-onset
DOID:0060936
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
  • DYSTONIA 28, CHILDHOOD-ONSET
  • DYT28
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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