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Metadata
ID DOID:0090038
Name torsion dystonia 2
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.
https://www.ncbi.nlm.nih.gov/pubmed/25799108, https://www.omim.org/entry/224500
Xrefs

ICD10CM:G24.1

OMIM:224500

ORDO:99657

Parent Relationships

is_a dystonia

is_a autosomal recessive disease

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