Global Variome shared LOVD

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Phenotype #0000105569 Individual ID 00132806 Associated disease NPC1 Phenotype details see paper; ..., progressive impairment of fine movements, dysarthria; 28y-vertical gaze paralysis, severe dysarthria, dysphagia, ataxia, tremor, intellectual impairment; sister 25y-gait ataxia, 20y-dysarthria, 24y-vertical gaze paralysis Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 33y (33 years) Age/Diagnosis - Age/Onset 10y 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 2017-11-09 18:15:38 +01:00 (CET) Date last edited N/A

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