Phenotype #0000043058

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00056433
Associated disease	SPG
Phenotype details	clinical diagnosis of "pure hereditary spastic paraplegia"; knowing that SPAST is the mutated gene, the corresponding OMIM is 182601 (SPG-4)
Diagnosis/Initial	-
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	N/A
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2016-01-08 07:55:27 +01:00 (CET)
Date last edited	2016-01-08 07:56:41 +01:00 (CET)

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