Phenotype #0000052931

Individual ID 00073260
Associated disease SCAN2;SCAR1;AOA2
Phenotype details late-teenage onset severe cerebellar ataxia with rapid progression, peripheral neuropathy, increased serum AFP, distal muscle atrophy, unclear oculomotor apraxia
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2012-11-07 12:13:41 +01:00 (CET)
Date last edited 2016-06-10 12:36:36 +02:00 (CEST)

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