Global Variome shared LOVD

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Phenotype #0000243368 Individual ID 00324872 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., birth weight -1.6SD; weight -3.9SD, length -3.3SD, OFC -0.6SD; hypotonia; no seizures; motor delay; no at 24m-not walking; speech delay; autistic behaviour; stereotypies with echolalia; no hyperactivity; sleeping disturbance; small nose; hypoplastic teeth, reduced enamel Inheritance Isolated (sporadic) Age/Examination 06y (6 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 2020-12-24 15:03:09 +01:00 (CET) Date last edited 2022-09-30 19:34:08 +02:00 (CEST)

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