Global Variome shared LOVD

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Phenotype #0000310247 Individual ID 00418960 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., motor delay; developmental delay; seizures; ataxia; no hypotonia; spasticity; strabismus; MRI brain normal; feeding difficulties Inheritance Isolated (sporadic) Age/Examination 3y (3 years) Age/Diagnosis - Age/Onset 6m 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 2022-10-13 21:36:14 +02:00 (CEST) Date last edited N/A

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