Global Variome shared LOVD

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Phenotype #0000334593 Individual ID 00445361 Associated disease CMRD Phenotype details see paper; ..., diarrhea, no vomiting; no hepatic signs; tendon reflexes upper limbs decreased, lower limbs absent Diagnosis/Initial Anderson/chylomicron retention disease Inheritance Familial, autosomal recessive Diagnosis/Definite CMRD Age/Examination - Age/Diagnosis 11y 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 12:09:14 +01:00 (CET) Date last edited N/A

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