Term Name: | torsion dystonia 2 |
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Synonyms: | |
Definition: | A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35. |
Ontology: | Human Disease [DOID:0090038] ( DOID:0090038 ) |