Global Variome shared LOVD

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Phenotype #0000355927 Individual ID 00471094 Associated disease SOTOS Phenotype details see paper; ..., 6y-macrocephaly, OFC 97th percentile,tall stature (above 97th), frontal bossing, arched eyebrows, all characteristic craniofacial features/gestalt of Sotos syndrome, systolic murmur, seizures, developmental delay, shyness, selfishness, specific phobias (particularly to loud noises) Diagnosis/Initial SOTOS syndrome Inheritance Isolated (sporadic) Diagnosis/Definite SOTOS1 Age/Examination 22y (22 years) Age/Onset - Phenotype/Onset - Protein - Owner name Lucía Miranda-Alcaraz Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-12-16 09:54:26 +01:00 (CET) Date last edited N/A

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