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 )

Relationships
is a type of: autosomal recessive disease dystonia