Term Name: torsion dystonia 2
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 )

Relationships
is a type of: autosomal recessive disease dystonia