Global Variome shared LOVD

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Phenotype #0000274240 Individual ID 00380389 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details global developmental delay; limited function (standing only); truncal hypotonia; no hypertonia; cortical visual impairment; 27m seizures; abnormal myelination Inheritance Isolated (sporadic) Age/Examination 4y (4 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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