Global Variome shared LOVD

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Phenotype #0000344483 Individual ID 00455956 Associated disease ? Diagnosis/Initial - Diagnosis/Definite MPS2 Phenotype details see paper; ..., 2m-inguinal hernia, surgically reduced; 9m-macrocephaly, mild facial dysmorphism, slight rigidity upper track, claw hands; 11m-MRI brain white matter lesions, ventricular expansion, perivascular alterations; 1y-normal psychomotor development; progressive severe cognitive degeneration, notable impairment verbal communication Inheritance Unknown Age/Examination 09y (9 years) Age/Diagnosis 00y09m Age/Onset - 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 2024-10-21 18:44:45 +02:00 (CEST) Date last edited N/A

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