A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. [ url:https://www.ncbi.nlm.nih.gov/pubmed/12838552 http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/1437405 ]
Synonyms: Gaucher Disease, Collodion Type Fetal Gaucher Disease