Human genes for Gaucher's disease type II
Gaucher's disease type II [DOID:0110958]
A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in an autosomal recessive mutation of GBA on chromosome 1q22.
Synonyms: Gaucher's disease type II, DOID:0110958, Gauchers disease type II, Gaucher Disease, Acute Neuronopathic Type, GD2 ...