OBO ID: DOID:0090041
Term Name: torsion dystonia 4 Search Ontology:
Synonyms:
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. (2)
References:
Ontology: Human Disease   (DOID:0090041)
OTHER torsion dystonia 4 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TUBB4A Dystonia 4, torsion, autosomal dominant 128101
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None