Phenotype #0000351961

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00466597
Associated disease	-
Phenotype details	see paper; ..., extra-peripheral nervous system manifestations; distal muscle weakness; kyphosis; walks (unstable); intellectual disability, epilepsy (myoclonic and myoclonis-astatic); MRI brain normal; abnormal teeth
Diagnosis/Initial	peripheral neuropathy
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	01y-10y
Age/Diagnosis	-
Age/Onset	00y-05y
Phenotype/Onset	epilepsy
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-09-17 18:34:31 +02:00 (CEST)
Date last edited	N/A

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