| Metadata | |
|---|---|
| ID | DOID:0051059 |
| Name | autosomal recessive Segawa syndrome |
| 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. https://pubmed.ncbi.nlm.nih.gov/36568392/, https://pubmed.ncbi.nlm.nih.gov/22815559/ |
| Xrefs | |
| Synonyms |
autosomal recessive DOPA-responsive dystonia [EXACT] |
| Parent Relationships |
is_a dystonia |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |