Global Variome shared LOVD

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Phenotype #0000331114 Individual ID 00441689 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., microcephaly; global developmental delay; 3y-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; no dysmorphic features; power reduced; reflexes reduced; Inheritance Familial, autosomal recessive Age/Examination 6y6m (6 years, 6 months) 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 2023-11-09 12:18:41 +01:00 (CET) Date last edited N/A

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