Global Variome shared LOVD

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Phenotype #0000070595 Individual ID 00092260 Associated disease MRD7 Phenotype details moderate IDD, intractable absence epilepsy, acquired microcephaly, failure to thrive; GLUT-DS like phenotype (hypoglycorrhagia, low CSF:serum glucose ratio) Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2016-12-16 19:09:22 +01:00 (CET) Date last edited N/A

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