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Summary
Disease
GAUCHER DISEASE, PERINATAL LETHAL
OMIM
608013
OMIM = Online Medalian Inheritance of Men
Orphanet
85212
Gene locus
1q22
Summary
rare (<1:1000000)
under construction
symptoms
onset, fetus
onset, neonatal
laboratory finding
Metabolite
min
max
Norm. min
Norm. max
unit
specimen
agegroup
Literature
Author
Co-Author
Title
society
book
volume
number
pages
Year