Global Variome shared LOVD

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Phenotype #0000346392 Individual ID 00457942 Associated disease NDD Diagnosis/Initial developmental delay Diagnosis/Definite SPDRS Phenotype details see paper; ..., 9m-developmental delay, unable to sit/roll/crawl; 6y-MRI brain normal; 2y-started pulling to stand, cruising on furniture; no speech, babbling/gestures; EEG multifocal bilateral sharps with seizures; able to self-feed; growthweight/height <1st percentile Inheritance Familial, autosomal recessive Age/Examination 09y (9 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 2024-11-21 15:46:52 +01:00 (CET) Date last edited 2024-11-21 16:04:06 +01:00 (CET)

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