Global Variome shared LOVD

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Phenotype #0000142756 Individual ID 00180363 Associated disease PMD;HLD1 Phenotype details severity score 2; 7m-head control; 4y-sitting; 4y-walking; nystagmus; no muscular hypotonia; pyramidal signs; ataxia; dysarthria; disease deteriorating, now only sitting; auditory brain response only I-III waves; MRI incomplete myelination Diagnosis/Initial classic Pelizaeus-Merzbacher disease Inheritance Isolated (sporadic) Diagnosis/Definite PMD Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset 1d Phenotype/Onset nystagmus Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2018-09-05 09:32:48 +02:00 (CEST) Date last edited N/A

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