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Details of RareLED ID 2046

Primary information
ID	2046
Disorder	Niemann-Pick disease(type C1 / chronic neuronopathic formD)
Inheritance	Autosomal recessive
Organ Affected	Hepatosplenomegaly, thrombocytopenia, ataxia, dysarthria, dysphagia, Liver, Spleen
Onset	Early
Genotype-Phenotype Correlation	I1061T typically present with juvenile-onset neurological disease.
Refrences	27026653