Global Variome shared LOVD

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Phenotype #0000319653 Individual ID 00428769 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., speech delay, motor delay, no intellectual disability, no autistic traits, behavioral problems, dysmorphism, genitourinary anomalies (vesicoureteral reflux); short stature, microcephaly, myopia, retinopathy, GI dysmotility Inheritance Isolated (sporadic) Age/Examination 16y (16 years) 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 2023-01-10 13:48:10 +01:00 (CET) Date last edited N/A

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