Phenotype #0000338999

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00449852
Associated disease	SOTOS
Phenotype details	facial gestalt, learning disability, craniostenosis; height >99.6 centile, OFC >99.6 centile; overgrowth head, overgrowth height; mild intellectual disability
Diagnosis/Initial	Sotos syndrome
Inheritance	Isolated (sporadic)
Diagnosis/Definite	SOTOS1
Age/Examination	01y04m (1 year, 4 months)
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-05-17 18:03:00 +02:00 (CEST)
Date last edited	2024-05-19 17:46:28 +02:00 (CEST)

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