Global Variome shared LOVD

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Phenotype #0000342224 Individual ID 00453566 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; ..., extreme macrocephaly; Chiari malformation with hydrocephalus (underwent a intradural Chiari decompression); learning difficulty; speech delay; no hypotonia; no seizures; no motor problems; ventricular septal defect that closed; choanal atresia Inheritance Isolated (sporadic) Age/Examination 7y5m (7 years, 5 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 2024-09-10 17:46:49 +02:00 (CEST) Date last edited N/A

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