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infantile parkinsonism-dystonia 2
Summary
- Synonym
-
- Brain dopamine-serotonin vesicular transport disease
- PKDYS2
- Definition
- A movement disease characterized by parkinsonism, dystonia, poor fine motor skills, and autonomic dysfunction including abnormal sweating, cold extremities, and poor sleep that has_material_basis_in homozygous mutation in the SLC18A2 gene on chromosome 10q25.3.
- Super Class
- autosomal recessive disease movement disease
External Links
- Disease Ontology
- DOID:0070490
- Mondo Disease Ontology
- UMLS
- OMIM
- GARD
Related Genes
