| Metadata | |
|---|---|
| ID | DOID:0060940 |
| Name | dystonia 33 |
| Definition | A dystonia characterized by a neurologic disorder with onset of focal or generalized dystonia in the first decades of life (from early childhood to adolescence) that has_material_basis_in heterozygous mutation in the EIF2AK2 gene on chromosome 2p22. https://pubmed.ncbi.nlm.nih.gov/33236446/ |
| Xrefs | |
| Parent Relationships |
is_a autosomal dominant disease is_a dystonia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance |