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

• MIM:311510

Ontology

Human Disease   ( DOID:0111781 )