Phenotype #0000245270

Individual ID 00326804
Associated disease LGMDR2;LGMD2B
Phenotype details Absent muscle fiber dysferlin HP:0030114,
Elevated serum creatine kinase HP:0003236
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Svetlana Gorokhova
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Svetlana Gorokhova
Date created 2021-01-14 19:39:36 +01:00 (CET)
Date last edited 2021-01-15 09:27:16 +01:00 (CET)

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