Global Variome shared LOVD

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Phenotype #0000346414 Individual ID 00457964 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite NEDFSAB Phenotype details see paper; ..., 37w-birth weight 4.0 kg (90th), length 54 cm (90th), OFC 36 cm (50th); 2y-weight 13.4 kg (70th), hight 95 cm (70th), OFC 47.5 cm (30th); facial dysmorphisms; EEG 2y6m-normal, 4y-no epileptiform discharges; EEG background slowing, 4y-continuous theta-delta slowing; no seizures; MRI brain cortical atrophy, optic nerve atrophy, cerebral hypomyelination, thin corpus callosum; severe global developmental delay; severe intellectual disability; <1m-first neurodevelopmental symptoms/delay; 5y-not able to communicate with words, not able to walk independently, not able to grasp small objects, not able to use spoon/fork, not able to drink from cup, not able to dress Inheritance Isolated (sporadic) Age/Examination 05y (5 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 2024-11-22 19:59:19 +01:00 (CET) Date last edited 2024-11-22 20:37:11 +01:00 (CET)

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