Global Variome shared LOVD

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Phenotype #0000179839 Individual ID 00239625 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite BBIS Inheritance Familial, autosomal recessive Phenotype details see paper; ..., low occipital frontal circumference, growth failure, short stature, distinctive facial features, mild-moderate intellectual disability, no renal anomalies, language delay, cardiac anomalies Age/Examination - 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 2019-06-07 16:58:06 +02:00 (CEST) Date last edited N/A

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