Conditions / Genetic
atypical Gaucher's disease due to saposin c deficiency
info · Genetic · ICD-10: E75.2
A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1.
Signs and symptoms
- Elevated serum acid phosphatase
- Bone pain
- Status epilepticus
- Developmental regression
- Hepatomegaly
- Intention tremor
- Chronic fatigue
- Supranuclear gaze palsy
- Anemia
- Ptosis