Global Variome shared LOVD

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Phenotype #0000296651 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 Creative Commons Attribution-ShareAlike 4.0 International 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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