Phenotype #0000302370

Individual ID 00410265
Associated disease MDDGA3;MEB;WWS
Inheritance Familial, autosomal recessive
Diagnosis/Initial -
Age/Examination 17y (17 years)
Diagnosis/Definite dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Phenotype details creatine kinase units/l (normal values in the range of 24-240): nd; biopsy: yes
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-05-23 11:57:25 +02:00 (CEST)
Date last edited 2022-05-23 14:14:46 +02:00 (CEST)

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