infantile parkinsonism-dystonia 2

Term ID

DOID:0070490

Synonyms

• 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. https://pubmed.ncbi.nlm.nih.gov/23363473/

References

• GARD:13594
• OMIM:618049
• SNOMEDCT_US_2023_03_01:717942003
• UMLS_CUI:C4303546
• UMLS_CUI:C4747991

Ontology

Human Disease   ( DOID:0070490 )