Global Variome shared LOVD

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Phenotype #0000036613 Individual ID 00049839 Associated disease BAIDCS Phenotype details brachycephaly, delayed closure, anterior fontanelle, atrophy rostral part cerebellum and pons, no strabismus/ptosis, mild learning disability Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2015-09-12 21:11:07 +02:00 (CEST) Date last edited N/A

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