Conditions / Genetic
Niemann-Pick disease type C2
info · Genetic · ICD-10: E75.2
A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3.
Signs and symptoms
- Low cholesterol esterification rate
- Pulmonary fibrosis
- Respiratory insufficiency
- Hepatomegaly
- Splenomegaly
- Jaundice
- Foam cells
- Dystonia
- Seizure
- Fetal ascites
Also known as: NPC2