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 InternationalCreative Commons License
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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