Global Variome shared LOVD

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Phenotype #0000230378 Individual ID 00303302 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details height 114 cm (SD −0.22 (5y)), weight 5y-26kg (SD 1.56); language delay; 18m-walk; 3y-first words; no regression; 4y-myoclonic astatic epilepsy; MRI nonspecific FLAIR hyperintensities frontal subcortical area left > right; no behavioral anomalies Inheritance Isolated (sporadic) Age/Examination 6y5m (6 years, 5 months) 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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