torsion dystonia 2

Term ID

DOID:0090038

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. (2)

References

• ICD10CM:G24.1
• OMIM:224500
• ORDO:99657

Ontology

Human Disease   ( DOID:0090038 )