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Details of RareLED ID 2045

Primary information
ID	2045
Disorder	Niemann-Pick disease(type B)
Inheritance	Autosomal recessive
Organ Affected	hepatosplenomegaly and pathologic alterations of their lungs, but there are usually no CNS signs, Liver, Spleen, Lungs
Onset	Adult
Genotype-Phenotype Correlation	deltaR608, only occurs in type B NPD patients and is found in 15% to 20% of NPD type B individuals in Western Europe and North America. Q292K, is associated with the intermediate neurological phenotype. DeltaR608 developed a later onset, non-neurological type B phenotype
Refrences	28164782