Global Variome shared LOVD

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Phenotype #0000334405 Individual ID 00445151 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ...; no epilepsy; no autism, no autistic features; global delayed development, intellectual disability, hyperreflexia, microcephaly (-3 SD), strabismus, facial features Inheritance Familial, autosomal dominant Age/Examination 5y (5 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 2024-01-05 10:36:32 +01:00 (CET) Date last edited N/A

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