Global Variome shared LOVD

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

Phenotype #0000339000 Individual ID 00449853 Associated disease SOTOS Phenotype details facial gestalt, learning disability, optic nerve hypoplasia, phobias; height >99.6 centile, OFC >99.6 centile; overgrowth; moderate intellectual disability Diagnosis/Initial Sotos syndrome Inheritance Isolated (sporadic) Diagnosis/Definite SOTOS1 Age/Examination 04y06m (4 years, 6 months) Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-05-17 18:03:00 +02:00 (CEST) Date last edited 2024-05-19 18:06:58 +02:00 (CEST)

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