Global Variome shared LOVD

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Phenotype #0000042705 Individual ID 00056067 Associated disease sialuria Phenotype details moderate developmental delay, hepatosplenomegaly, slightly coarse facial features, large tongue, macrocephaly, massive urinary excretion free sialic acid; 7y-mild intellectual impairment (attends regular school), fine-motor difficulty, growth 10th percentile, organomegaly persistent Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 2y 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 2011-01-02 15:21:42 +01:00 (CET) Date last edited 2013-02-01 19:44:12 +01:00 (CET)

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