Phenotype #0000359874

Individual ID 00475160
Associated disease LGMD
Phenotype details see paper; ..., 5m-deceased; pregnancy complicated by gestational diabetes; birth hypotonic, elevated serum CK level (9253 U/L); 5m-respiratory failure, respiratory tract infection, hypotonia, muscle atrophy, diminished deep tendon reflexes; no calf hypertrophy, no organomegaly
Diagnosis/Initial LGMD
Inheritance Familial, autosomal recessive
Diagnosis/Definite LGMDR28
Age/Examination 00y05m (5 months)
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 2026-04-02 19:24:29 +02:00 (CEST)
Date last edited N/A

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