Search Ontology:
Human Disease

Waisman syndrome

Term ID
DOID:0111781
Synonyms
  • early-onset parkinsonism-intellectual disability syndrome
  • Laxova-Opitz syndrome
Definition
A syndrome characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease that has_material_basis_in hemizygous or homozygous mutation in the RAB39B gene on chromosome Xq28. https://www.ncbi.nlm.nih.gov/pubmed/25434005
References
Ontology
Human Disease   ( DOID:0111781 )
Relationships
is a type of
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Genes Involved
Zebrafish Models