Phenotype #0000351723

Individual ID 00466359
Associated disease LGMD
Phenotype details Highly elevated creatine kinase
Limb-girdle muscle weakness
Diagnosis/Initial Limb Girdle Muscular Dystrophy
Inheritance Familial, autosomal recessive
Diagnosis/Definite Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Camille Verebi
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Camille Verebi
Date created 2025-08-22 17:36:40 +02:00 (CEST)
Date last edited 2025-08-25 15:35:47 +02:00 (CEST)

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