Global Variome shared LOVD

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Phenotype #0000142753 Individual ID 00180359 Associated disease PMD;HLD1 Phenotype details nystagmus from birth; 1m-respiratory difficulty, tracheomalacia, brain stem auditory evoked response showed extremely slow conduction velocity with only waves 1 and 2 present bilaterally; 13m-MRI scan was extremely abnormal with poor myelination white matter, EMG showed no involvement peripheral nervous system; 4y-not able to sit, speak, feed himself. Diagnosis/Initial Pelizaeus-Merzbacher disease Inheritance Familial, X-linked recessive Diagnosis/Definite PMD Age/Examination 04y (4 years) 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 2018-09-05 08:24:39 +02:00 (CEST) Date last edited N/A

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