Phenotype #0000346123

Individual ID 00457664
Associated disease LGMD
Phenotype details abnormality calf musculature; muscular dystrophy; respiratory insufficiency; abnormality eye; progressive muscle weaknes; marked deficiency of GAA enzymatic activity
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Familial, autosomal recessive
Diagnosis/Definite GDS2
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 2024-11-15 16:56:36 +01:00 (CET)
Date last edited N/A

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