Global Variome shared LOVD

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Phenotype #0000325815 Individual ID 00435631 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., motor delay; no speech; intellectual disability; seizures; mild myopia; hypotonia; MRI brain abnormal white matter signal (hypomyelination); no; prominent maxilla/upper lip; micrognathia; long ears Inheritance Isolated (sporadic) Age/Examination 10y (10 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 22:51:48 +02:00 (CEST) Date last edited N/A

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