Global Variome shared LOVD

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

Phenotype #0000155672 Individual ID 00207888 Associated disease ? Diagnosis/Initial - Diagnosis/Definite KBGS; ETL-1 Phenotype details Intellectual disability; seizures; generalized hypotonia; abnormal facial shape; short stature Inheritance Familial, autosomal dominant Age/Examination - 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 2018-12-02 17:52:50 +01:00 (CET) Date last edited 2018-12-02 19:51:46 +01:00 (CET)

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