Global Variome shared LOVD

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Phenotype #0000252692 Individual ID 00334943 Associated disease KLEFS1 Diagnosis/Initial - Diagnosis/Definite - Phenotype details Clinical suspicion of Sotos syndrome, tall, overweight, facial dysmorphia (large long head, large forehead, epicanthus, puffy tent-like lips, small teeth with gaps). Rather clumsy large hands, no weakness in drinking as a baby, Inheritance Unknown Age/Examination 04y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2021-03-02 14:17:38 +01:00 (CET) Date last edited 2021-03-03 09:28:22 +01:00 (CET)

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