Global Variome shared LOVD
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Phenotype #0000337682
Individual ID
00448496
Associated disease
SOTOS
Phenotype details
Tall stature, Macrocephaly, Obesity, Neurodevelopmental delay, Generalized non-motor (absence) seizure, Short attention span, Intellectual disability, borderline, EEG with polyspike wave complexes
Diagnosis/Initial
-
Inheritance
Isolated (sporadic)
Diagnosis/Definite
-
Age/Examination
10y (10 years)
Age/Onset
-
Phenotype/Onset
-
Protein
-
Owner name
Andreas Laner
Database submission
license
Creative Commons Attribution 4.0 International
Created by
Andreas Laner
Date created
2024-03-15 13:41:45 +01:00 (CET)
Date last edited
2024-03-16 12:36:20 +01:00 (CET)
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