Global Variome shared LOVD

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Phenotype #0000332746 Individual ID 00443405 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., developmental delay; no autistic features; no ADHD; no aggressive behavior; seizure; hypotonia, poor vision, bilateral optic atrophy, abnormal uncoordinated gait; no dysmorphic features; bilateral pachygyria, mild cortical thickening fronto-temporal lobes; MRI brain normal corpus callosum, hydrocephaly Inheritance Familial, autosomal recessive Age/Examination 6y (6 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 2023-11-26 09:10:30 +01:00 (CET) Date last edited N/A

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