Phenotype #0000296651

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00404058
Associated disease	SPG11
Phenotype details	36-y man with progressive spastic paraparesis. Neurological examination showed spastic lower limbs, pes cavus and peripheral neuropathy. Nerve conduction velocity study showed demyelinating peripheral Neuropathy
Diagnosis/Initial	HSP
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	SPG11
Age/Examination	36y (36 years)
Age/Diagnosis	-
Age/Onset	16y
Phenotype/Onset	-
Protein	-
Owner name	Sherifa Ahmed Hamed
Database submission license
Created by	Sherifa Ahmed Hamed
Date created	2022-02-25 16:10:18 +01:00 (CET)
Date last edited	2022-03-03 11:44:00 +01:00 (CET)

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