Global Variome shared LOVD

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Phenotype #0000296641 Individual ID 00404048 Associated disease SPG11 Phenotype details 16-y male with progressive cerebellar ataxia and peripheral neuropathy. Neurological examination revealed intention tremors, staccato speech, pes cavus, stocking and glove hypesthesia, exaggerated knee reflex and Babinski sign Diagnosis/Initial SCA Inheritance Familial, autosomal recessive Diagnosis/Definite SPG11 Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset 12y Phenotype/Onset SCA 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 15:14:51 +01:00 (CET) Date last edited 2022-03-03 11:44:25 +01:00 (CET)

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