Global Variome shared LOVD

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Phenotype #0000070609 Individual ID 00092273 Associated disease KLEFS Intellectual_dis - Diagnosis/Initial - Phenotype details severe IDD with regression, autism, hypotonia, dysmorphic facial features (incl. bilateral megalocornea); neurodegeneration with loss of skills Diagnosis/Definite - Inheritance Familial, autosomal dominant 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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