Global Variome shared LOVD

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Phenotype #0000324669 Individual ID 00434312 Associated disease NP Diagnosis/Initial Niemann-Pick disease Diagnosis/Definite NPC2 Phenotype details see paper; ..., normal birth weight; 3m-failure to thrive, cough, loose stools; 5m-delay in motor development, could not hold neck or roll over Inheritance Familial, autosomal recessive Age/Examination 00y05m (5 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-03-23 11:15:32 +01:00 (CET) Date last edited N/A

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