Global Variome shared LOVD

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Phenotype #0000231771 Individual ID 00305923 Associated disease NDD Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; ..., no facial dysmorphism; no axial hypotonia; no speech delay; 10y-lost ambulation; 7y-regression onset; dystonia; ataxia; spastic tetraparesis, dysarthria, nystagmus, ophthalmoplegia, dysphagia, myoclonic jerk; no seizure; EEG normal; atrophy Inheritance Isolated (sporadic) Age/Examination 20y (20 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-07-05 16:30:04 +02:00 (CEST) Date last edited 2020-07-05 17:04:51 +02:00 (CEST)

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