Global Variome shared LOVD

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Phenotype #0000125504 Individual ID 00152542 Associated disease MEB Phenotype details failure to thrive, global hypotonia, postural control not achieved, no facial dysmorphisms, severe mental retardation, myopia, cataracts, retinitis pigmentosa, CPK 1215 UI; 17y-sudden death Diagnosis/Initial muscle-eye-brain disease Inheritance Familial, autosomal recessive Diagnosis/Definite MDDGA-3 Age/Examination 17y (17 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 2018-02-02 21:45:33 +01:00 (CET) Date last edited N/A

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