Global Variome shared LOVD

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Phenotype #0000274239 Individual ID 00380388 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details global developmental delay; not ambulatory; truncal hypotonia; hypertonia limbs; cortical visual impairment; 8m seizures; abnormal myelination Inheritance Isolated (sporadic) Age/Examination 2y (2 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 2021-08-13 20:56:20 +02:00 (CEST) Date last edited N/A

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