Global Variome shared LOVD

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Phenotype #0000049871 Individual ID 00063300 Associated disease BCNS Phenotype details multiple jaw cysts and BCCs, broad nasal root, hypertelorism, frontal bossing, palmoplantar pits, bifid rib, calcification of the falx cerebri and enlargement of the cerebral ventricles. Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Michel van Geel Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2016-03-08 13:18:23 +01:00 (CET) Date last edited 2017-01-17 07:59:31 +01:00 (CET)

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