Conditions / Syndrome
Waisman syndrome
info · Syndrome
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.
Signs and symptoms
- Bradykinesia
- Parkinsonism
- Rigidity
- Parkinsonism with favorable response to dopaminergic medication
- Resting tremor
- Postural instability
- Poor speech
- Megalencephaly
- Seizure
- Shuffling gait
Also known as: Laxova-Opitz syndrome; early-onset parkinsonism-intellectual disability syndrome