Phenotype #0000357038

Individual ID 00472229
Associated disease MDDGC14;LGMD2T
Phenotype details Myopathy, reduced muscle fiber alpha dystroglycan, Intellectual disability mild, elevated serum creatinine kinase
Diagnosis/Initial Alphadystroglycanopathy
Inheritance Unknown
Diagnosis/Definite Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development)
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 2026-01-19 15:27:12 +01:00 (CET)
Date last edited 2026-02-06 10:21:15 +01:00 (CET)

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