Phenotype #0000269717

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00374507
Associated disease	?
Diagnosis/Initial	neuropathy
Diagnosis/Definite	-
Phenotype details	Global developmental delay, spastic paraparesis, positive cerebellar signs and peeling of skin. Brain MRI showed hypomyelination
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-05-24 20:06:48 +02:00 (CEST)
Date last edited	N/A

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