Phenotype #0000229957

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00302879
Associated disease	NBIA
Phenotype details	see paper; ..., 5m-onset seizures, spasms > tonic seizures; EEG hypsarrhythmia; hypotonia; intellectual disability; bed-ridden, no speech; MRI brain susceptibility-weighted imaging iron deposition, cerebral atrophy, delayed myelination, cerebellar atrophy
Diagnosis/Initial	West syndrome
Inheritance	Isolated (sporadic)
Diagnosis/Definite	NBIA5
Age/Examination	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-06-02 21:08:08 +02:00 (CEST)
Date last edited	N/A

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