Global Variome shared LOVD

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Phenotype #0000231769 Individual ID 00305921 Associated disease NDD Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; ..., no facial dysmorphism; 9m-walk; 10y-regression onset; ataxia; cerebellar dysmetry; 26y-seizures, 35y-myoclonus seizures; EEG spikes and polyspikes; atrophy; periventricular anomalies; EMG normal; muscle biopsy COX-negative fibers Inheritance Isolated (sporadic) Age/Examination 48y (48 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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