Global Variome shared LOVD

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Phenotype #0000297240 Individual ID 00404665 Associated disease SPG83 Diagnosis/Initial HSP Diagnosis/Definite SPG83 Phenotype details 22-y male with progressive weakness and spasticity of both lower limbs, lower limbs' hyperreflexia, sustained clonus, intact abdominal reflex and Babinski sign. He intelligence was borderline/mild mental subnormality (IQ:70). Inheritance Familial, autosomal recessive Age/Examination 17y (17 years) Age/Diagnosis - Age/Onset 14y Phenotype/Onset - Owner name Sherifa Ahmed Hamed Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Sherifa Ahmed Hamed Date created 2022-03-06 00:22:12 +01:00 (CET) Date last edited 2022-03-07 15:36:53 +01:00 (CET)

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