Global Variome shared LOVD

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Phenotype #0000210562 Individual ID 00206987 Associated disease SCAR Phenotype details gait, balance and neurocognitive abnormalities; common mutation described as p.(Phe169*) by Dy Diagnosis/Initial spinocerebellar ataxia Inheritance Familial, autosomal recessive Diagnosis/Definite SCAR7 Age/Examination - Age/Diagnosis 10y Age/Onset 04y Phenotype/Onset - Protein - Owner name Sara Mole Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-01-23 14:55:11 +01:00 (CET) Date last edited N/A

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