OBO ID: DOID:0111781
Term Name: Waisman syndrome Search Ontology:
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 )
OTHER Waisman syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RAB39B Waisman syndrome 311510
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None