Phenotype #0000153591

Individual ID 00205407
Associated disease LGMD
Phenotype details mild dystrophy, calf hypertrophy, Achilles tendon contractures; cognitive impairment; elevated serum creatine phosphokinase (HP:0003236) 20x; walk 3y, still walking >16y
Diagnosis/Initial limb-girdle muscular dystrophy; mental retardation
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 3y
Phenotype/Onset -
Protein DAG1 hypoglycosylated
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 2011-03-25 18:07:54 +01:00 (CET)
Date last edited 2012-03-09 19:02:28 +01:00 (CET)

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