Global Variome shared LOVD

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Phenotype #0000334604 Individual ID 00445352 Associated disease MSS Phenotype details see paper; ..., cataracts, ataxia, delayed growth, mental retardation Diagnosis/Initial chylomicron retention disease - Marinesco-Sjogren syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite MSS Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-01-10 12:21:48 +01:00 (CET) Date last edited N/A

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