Global Variome shared LOVD

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Phenotype #0000325797 Individual ID 00435612 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details developmental delay; no intellectual disability; no microcephaly; MRI brain normal; neuropsychiatric disorders; seizures; drug-resistant epilepsy; axial hypotonia; no appendicular hypertonia; normal reflexes; no ataxia; no dysmorphic features; heart disease; no short statur; no failure to thrive; no recurrent infections Inheritance Isolated (sporadic) Age/Examination 19y (19 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 2023-08-06 10:54:39 +02:00 (CEST) Date last edited N/A

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