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Human Disease

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
  • MIM:618049
  • SNOMEDCT_US_2023_03_01:717942003
  • UMLS_CUI:C4303546
  • UMLS_CUI:C4747991
Ontology
Human Disease   ( DOID:0070490 )
Relationships
is a type of
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Genes Involved
Zebrafish Models