Global Variome shared LOVD

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Phenotype #0000233345 Individual ID 00307922 Associated disease ID Diagnosis/Initial intellectual diability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details see paper; ..., intellectual disability; short stature; abnormal facial shape; abnormal heart morphology; abnormality of the genitourinary system Age/Examination 6y (6 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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