Gaucher's disease type III

A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.

Signs and symptoms

• Progressive neurologic deterioration
• Decreased body weight
• Strabismus
• Generalized myoclonic seizure
• Abnormal speech pattern
• Short stature
• Horizontal supranuclear gaze palsy
• Ataxia
• Hepatomegaly
• Motor delay

Also known as: GD III; Gaucher Disease, Chronic Neuronopathic Type; Gaucher Disease, Juvenile And Adult, Cerebral; Gaucher Disease, Subacute Neuronopathic Type