Global Variome shared LOVD

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Phenotype #0000024950 Individual ID 00028881 Associated disease MNS Phenotype details see paper; 6y 5m history of severe sleep apnoea, weight loss, failure to thrive; developed severe respiratory distress, required an emergency tracheostomy remaining in situ; decreased hearing bilaterally, tinnitus; 26y height 144 cm, prominent supra-orbital ridge, exorbitism, mild hypertelorism, full cheeks, micrognathia; 19y new onset weakness, incoordination her right upper limb, abdomen typical bony features of MNS, MRI brain enhancing lesion left centrum semiovale, cerebrospinal fluid analysis elevated IgG index (0.960) with oligoclonal bands Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Examination 23y (23 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 2015-01-03 10:37:52 +01:00 (CET) Date last edited N/A

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