Phenotype #0000296640

Individual ID 00404047
Associated disease SPG11
Phenotype details 22-y with progressive spastic paraparesis, cerebellar ataxia, peripheral neuropathy and pes cavus. Nerve conduction velocity study showed demyelinating peripheral neuropathy
Diagnosis/Initial Cerebellar and sensory ataxia, spastic paraparesis and peripheral neuropathy
Inheritance Familial, autosomal recessive
Diagnosis/Definite SPG11
Age/Examination 22y (22 years)
Age/Diagnosis -
Age/Onset 13y
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 2022-02-25 15:02:10 +01:00 (CET)
Date last edited 2022-03-03 11:44:52 +01:00 (CET)

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