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 InternationalCreative Commons License
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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