Mondo Description Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD).
Uniprot Description Distinct form of Gaucher disease type 2, characterized by fetal onset. Hydrops fetalis, in utero fetal death and neonatal distress are prominent features. When hydrops is absent, neurologic involvement begins in the first week and leads to death within 3 months. Hepatosplenomegaly is a major sign, and is associated with ichthyosis, arthrogryposis, and facial dysmorphism.
Mondo Term and Equivalent IDs
MONDO:0011945: Gaucher disease perinatal lethal