Human genes for torsion dystonia 2
Torsion dystonia 2 [DOID:0090038]
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.
Synonyms: torsion dystonia 2, DOID:0090038