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Details of RareLED ID 2047

Primary information
ID	2047
Disorder	Niemann-Pick disease(type C2)
Inheritance	Autosomal recessive
Organ Affected	Hepatosplenomegaly, thrombocytopenia, ataxia, dysarthria, dysphagia, Liver, Spleen
Onset	Early
Genotype-Phenotype Correlation	homozygous pathogenic mutation c.441?+?1G>A
Refrences	29928259