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dystonia 28, childhood-onset

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene.
Uniprot Description A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT28 is an autosomal dominant, progressive form characterized by onset in the first decade of life and variable severity. Dystonia begins focally in the lower limbs, resulting in gait difficulties, with later progression to other body regions, including the upper limbs, neck, and orofacial region.
Mondo Term and Equivalent IDs
MONDO:0015004:  dystonia 28, childhood-onset
Orphanet:589618: 
UMLS:C4310633: