| Term Name: | autosomal recessive Segawa syndrome |
|---|---|
| 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. |
| Ontology: | Human Disease [DOID:0051059] ( DOID:0051059 ) |