Phenotype #0000351172

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00465629
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	IDDSADF
Inheritance	Isolated (sporadic)
Phenotype details	see paper; ..., developmental delay, ankylosing spondylitis; 15y-seizures, crying followed by bilateral tonic-clonic seizures, MRI normal; EEG regional intermittent rhythmic slowing, with background slowing
Age/Examination	15y (15 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-06-02 10:12:00 +02:00 (CEST)
Date last edited	N/A

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