Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000238664 Individual ID 00314906 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Global developmental delay, seizures, right coronal craniosynostosis, strabismus, hearing loss, Chiari I malformation, strong paternal family history of colon cancer. Inheritance Unknown Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset 1d 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 2020-10-20 15:09:17 +02:00 (CEST) Date last edited N/A

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