Global Variome shared LOVD

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Phenotype #0000243365 Individual ID 00324869 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., birth 37w, weight -1.8SD; 2y-weight +0.3SD, 2y-length 0SD, 2y-OFC +1SD; moderate intellectual disability/developemental delay; hypotonia; no seizures; motor delay; 24m-walk; speech delay; 24m-no speech; autistic behaviour; no prominent forehead; no prominent forehead; no flat nasal bridge; no thin upper lip; plagiocephaly, brachycephaly Inheritance Isolated (sporadic) Age/Examination 03y (3 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 19:36:18 +02:00 (CEST)

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