Global Variome shared LOVD

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Phenotype #0000338849 Individual ID 00449675 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., hypotonia and/or muscle weakness; no history of poor height growth; endocrine features; respiratory features; cardiac features Inheritance Isolated (sporadic) Age/Examination 2d 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 2024-04-29 17:32:11 +02:00 (CEST) Date last edited N/A

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