Global Variome shared LOVD

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Phenotype #0000172157 Individual ID 00228227 Associated disease ? Diagnosis/Initial DD/ID Diagnosis/Definite - Phenotype details see paper; ..., developmental delay, delayed walking (17m), delayed speech (sentences), intellectual disability, no hypotonia, agenesis corpus callosum, macrosomia; MRI 1m complete agenesis corpus callosum; tube feeding during first 2w, no problem after; low hairline, upturned, thick ear lobes, no hearing loss, short hands, slender fingers, no teeth anomalies Inheritance Isolated (sporadic) Age/Examination 11y06m (11 years, 6 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-03-22 09:01:23 +01:00 (CET) Date last edited 2019-03-22 09:13:04 +01:00 (CET)

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