Global Variome shared LOVD

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Phenotype #0000210499 Individual ID 00275900 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite SNIBCPS Phenotype details global developmental delay; walk-3y6m; speech 10 words; moderate intellectual disability; normal weight; normal height; macrocephaly; no wide CSF spaces; no epilepsy, no seizures; irregular broad based gait; prominent forehead; widely spaced eyes; no neonatal issues; normal heart;; Inheritance Isolated (sporadic) 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 2020-01-20 21:55:37 +01:00 (CET) Date last edited N/A

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