Global Variome shared LOVD

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Phenotype #0000331110 Individual ID 00441685 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., microcephaly; global developmental delay; 12m-sit; 2y8m-walk; language severely delayed; profound intellectual disability; generalised tonic clonic seizures; no peripheral neuropathy; no ataxia; no dysmorphic features; tone normal; power reduced; sensation normal; normal gait; reflexes reduced; Inheritance Familial, autosomal recessive Age/Examination 23y (23 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 2023-11-09 12:18:41 +01:00 (CET) Date last edited N/A

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