dystonia 33

Term ID

DOID:0060940

Synonyms

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/

References

MIM:619687

Ontology

Human Disease ( DOID:0060940 )

Relationships

is a type of: autosomal dominant disease autosomal recessive disease dystonia

autosomal dominant disease autosomal recessive disease dystonia Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models