Global Variome shared LOVD

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Phenotype #0000233351 Individual ID 00307928 Associated disease ID Diagnosis/Initial intellectual diability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details see paper; ..., global developmental delay; failure to thrive; central hypotonia; microcephaly; neonatal respiratory distress; recurrent aspiration pneumonia; osteopenia Age/Examination 3y (3 years) 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 2020-08-23 12:07:39 +02:00 (CEST) Date last edited N/A

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