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Human Disease

dystonia 27

Term ID
DOID:0090050
Synonyms
Definition
A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37. (2)
References
Ontology
Human Disease   ( DOID:0090050 )
Relationships
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Genes Involved
Zebrafish Models