Global Variome shared LOVD

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Phenotype #0000296690 Individual ID 00404101 Associated disease SPG11 Phenotype details 18-y male with progressive weakness and spasticity of both lower limbs, cognitive deterioration, limb ataxia, peripheral neuropathy and bilateral pes cavus. He had history of delayed mental and motor development. Diagnosis/Initial SCA; HSP Inheritance Familial, autosomal recessive Diagnosis/Definite SPG11 Age/Examination 18y (18 years) Age/Diagnosis - Age/Onset 11y 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 2022-02-27 13:16:01 +01:00 (CET) Date last edited 2022-03-03 11:42:50 +01:00 (CET)

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