Global Variome shared LOVD

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Phenotype #0000060985 Individual ID 00081422 Associated disease MRT Phenotype details delayed motor milestones, speech delay, hypotonia, lability of attention, intellectual disability, dysmorphic features Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 10y (10 years) Age/Diagnosis 06y Age/Onset 00y11m Phenotype/Onset - Protein - Owner name Thierry Bienvenu Database submission license No license selected Created by Thierry Bienvenu Date created 2016-09-28 16:34:53 +02:00 (CEST) Date last edited 2016-10-09 16:01:42 +02:00 (CEST)

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