Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000232952 Individual ID 00307147 Associated disease ataxia Diagnosis/Initial ataxia Diagnosis/Definite - Phenotype details failure to thrive, developmental delay, hypersalivation, dysphagia, mild pyramidal features, MRI brain cerebellar atrophy Inheritance Familial, autosomal recessive Age/Examination 07y (7 years) Age/Onset 00y05m Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-08-05 09:22:27 +02:00 (CEST) Date last edited N/A

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