Global Variome shared LOVD

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Phenotype #0000210460 Individual ID 00275860 Associated disease ? Diagnosis/Initial - Diagnosis/Definite SNIBCPS Phenotype details dysmorphic features, mild-moderate intelectual disability, PCOS, obesity, diabetes, syncopal episodes, broad hands, short fingers, dysplastic toe nails Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Dong Li Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-01-19 12:31:10 +01:00 (CET) Date last edited N/A

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