Phenotype #0000041536

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00054872
Associated disease	SPG46
Phenotype details	hereditary spastic paraplegia, ataxia, cataract, neuropathy, mild ID, thin corpus callosum, white matter changes
Diagnosis/Initial	hereditary spastic paraplegia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	SPG46
Age/Examination	-
Age/Diagnosis	-
Age/Onset	03y
Phenotype/Onset	-
Protein	-
Owner name	Erik-Jan Kamsteeg
Database submission license	No license selected
Created by	Erik-Jan Kamsteeg
Date created	2015-11-30 16:10:38 +01:00 (CET)
Date last edited	2022-11-17 09:39:43 +01:00 (CET)

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