Global Variome shared LOVD

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Phenotype #0000337469 Individual ID 00448260 Associated disease NDD Diagnosis/Initial developmental delay, intellectual disability Diagnosis/Definite - Phenotype details see paper; ..., mild global developmental delay, mild-moderate intellectual disability, hypotonia, behavioural challenges, short stature Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-02-25 15:25:04 +01:00 (CET) Date last edited N/A

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