Global Variome shared LOVD

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Phenotype #0000041566 Individual ID 00043750 Associated disease GAMOS1 Phenotype details see paper; cerebellar ataxia with mental retardation, optic atrophy, skin abnormalities, ... 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 International Created by Johan den Dunnen Date created 2015-12-07 06:35:48 +01:00 (CET) Date last edited N/A

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