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Metadata
ID DOID:0090041
Name torsion dystonia 4
Definition A dystonia that is characterized by progressive laryngeal and cervical dystonia (onset in the second to third decade of life) followed by involvement of other muscles, such as the neck or limbs that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 4A class IVa (TUBB4A) gene on chromosome 19p13.
https://www.ncbi.nlm.nih.gov/pubmed/29127012, https://www.omim.org/entry/128101
Xrefs

ICD10CM:G24.1

OMIM:128101

ORDO:98805

Subsets

DO_rare_slim

Parent Relationships

is_a dystonia

is_a autosomal dominant disease

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