Global Variome shared LOVD

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Phenotype #0000110006 Individual ID 00137258 Associated disease MD Phenotype details born at term, 3.4 Kg, 50.8 cm; significant hypotonia, joint laxity, severe tracheomalacia and reflux (tracheotomy, G-tube), pyloric stenosis; 14m-small size (weight/length 20th centile), head circumference 15th centile, flattened nasal bridge, hyperterlorism, persistent micrognathia, decreased head control, decreased muscle mass (upper/lower extremities), hypotonia (central/distal hypotonia); 16m-extreme hypotonia, hyperflexible joints, tracheostomy assisted breathing, not ambulant, could not sit unsupported; elevated serum CPK (HP:0003236) 1,306 U/L Diagnosis/Initial dystrophy, muscular, atypical Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 8d Phenotype/Onset intractable vomiting, lethargy, micrognathia, dysmorphic features Protein WB DMD reduced size Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2010-09-10 19:31:01 +02:00 (CEST) Date last edited 2012-03-09 19:08:25 +01:00 (CET)

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