Global Variome shared LOVD

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Phenotype #0000243375 Individual ID 00324879 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., birth 42w, weight +2.9SD, length +2.2SD, OFC +3.3SD; weight -0.9SD, length -1.6SD, OFC +0.2SD; moderate intellectual disability/developemental delay; hypotonia; seizures; motor delay; 36m-walk; speech delay; 18; no autistic behaviour ; no stereotypies; no hyperactivity; no anxiety; no aggressiveness; no feeding difficulties; sleeping disturbance; prominent forehead; almond eyes; no flat nasal bridge; thin upper lip Inheritance Isolated (sporadic) Age/Examination 10y (10 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 19:28:56 +02:00 (CEST)

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