Global Variome shared LOVD

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Phenotype #0000243382 Individual ID 00324886 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., birth 39w, weight +0.5SD, length -0.9SD, OFC +0.6SD; weight -1.8SD, length -2.5SD, OFC +0.1SD; severe intellectual disability/developemental delay; no hypotonia; no seizures; motor delay; 30m-walk; speech delay; 16m-first words; autistic behaviour; no hyperactivity; no aggressiveness; no feeding difficulties; no sleeping disturbance; thin upper lip; glabellar hemangioma, 2 café au lait spots Inheritance Isolated (sporadic) Age/Examination 04y (4 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 19:18:36 +02:00 (CEST)

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