Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000288742 Individual ID 00395544 Associated disease MD Phenotype details hyperCKemia; OFC <P3; max. mobility walk; no joint contractures; speech short sentences; intellectual disability; raised CK 3,152-4,347 IU/L; no cardiovascular involvement; no ocular involvement; EMG myogenic change; MRI brain normal Diagnosis/Initial CMD-ID Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2A Age/Examination 4y (4 years) Age/Diagnosis - Age/Onset 5m Phenotype/Onset hyperCKemia Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-12-07 17:31:19 +01:00 (CET) Date last edited N/A

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