autosomal recessive Segawa syndrome

Term ID

DOID:0051059

Synonyms

• autosomal recessive DOPA-responsive dystonia

Definition

A dystonia that is characterized by onset in infancy of dopa-responsive dystonia and that has_material_basis_in homozygous or compound heterozygous mutation in the tyrosine hydroxylase gene (TH) on chromosome 11p15. (2)

References

• MIM:605407
• ORDO:101150

Ontology

Human Disease   ( DOID:0051059 )