Phenotype #0000337077

Individual ID 00447885
Associated disease SCA
Phenotype details see paper; ..., acute episodes of ataxia; 2y-onset febrile seizures (2-7d); vertigo, ataxia, nausea, vomiting, occacional confusion; permanent symptoms; no tremor; 2y-nystagmus; no permanent ataxia; no learning difficulties; normal psychomotor development
Diagnosis/Initial ataxia
Inheritance Familial, autosomal dominant
Diagnosis/Definite SCA27A
Age/Examination 5y (5 years)
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 2024-01-31 10:24:49 +01:00 (CET)
Date last edited N/A

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