Global Variome shared LOVD

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Phenotype #0000230382 Individual ID 00303306 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details height 142 cm (SD −0.25), weight 62.7kg (SD 2.39), OFC 57.6 cm (SD 2.77); developmental delay/intellectual disability; 15m-walk; 3y-4y-first words; possible regression; 2y-seizures; hypoplasia corpus callosum; muscular hypotonia; disruptive behavior, autism; scoliosis, pronation feet 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 2020-06-09 19:07:12 +02:00 (CEST) Date last edited 2020-08-08 22:55:54 +02:00 (CEST)

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