Phenotype #0000044506

Individual ID 00057855
Associated disease MEB
Phenotype details less severe, clinical/radiological features dystroglycanopathy, brain MRI abnormal white matter signal T2-weighted, severe hyptonia, did not attain any motor milestones; CPK: 1740 U/L
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2013-03-07 22:36:27 +01:00 (CET)
Date last edited N/A

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