Global Variome shared LOVD

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Phenotype #0000344861 Individual ID 00456346 Associated disease ? Diagnosis/Initial mucopolysaccharidosis Diagnosis/Definite MPS2 Phenotype details see paper; ..., 19y- contractures small joints upper limbs, hoarseness of voice (insidious in onset, gradually progressive); no developmental delay, short stature, coarse facial features, mild scoliosis, genu valgum, short stubby fingers with distal joint contractures, hepatosplenomegaly, umbilical hernia, average intelligence Inheritance Unknown Age/Examination 24y (24 years) Age/Diagnosis - Age/Onset 19y Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-10-25 09:44:52 +02:00 (CEST) Date last edited N/A

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