Global Variome shared LOVD

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Phenotype #0000342228 Individual ID 00453570 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; ..., no brain phneotype; no intellectual disability; no developmental delay; no hypotonia; no seizures; no motor problems; 5m-5y-slight cardiac ectasia; adrenal insufficiency; no neurodevelopmental findings, recurrent infections, low serum-carnitine that normalized spontaneously at 5y Inheritance Unknown Age/Examination 35y (35 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 2024-09-10 17:46:49 +02:00 (CEST) Date last edited N/A

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