Global Variome shared LOVD

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Phenotype #0000343436 Individual ID 00454826 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite POBINDS Phenotype details see paper; ..., intellectual disability, epilepsy, hypotonia, hypermobile joints; bushy eyebrows, short philtrum, large nose, broad nasal tip, large incisors, clinodactyly digits 1-4-4 Inheritance Familial, autosomal dominant Age/Examination 1y1m (1 year, 1 month) 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 2024-09-28 10:13:26 +02:00 (CEST) Date last edited N/A

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