Phenotype #0000292321

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00231369
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	NEDLIB
Inheritance	Isolated (sporadic)
Phenotype details	OFC 25th; developmental delay; intellectual disability; focal seizures, tonic-clonic seizures; psychomotor regression; no speech; brain MRI mild cerebellar atrophy; unable to walk
Age/Examination	09y (9 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-01-17 14:37:21 +01:00 (CET)
Date last edited	N/A

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