Phenotype #0000284116

Individual ID 00390579
Associated disease MDDG
Phenotype details deceased; congenital muscular dystrophy, no mental retardation; 1y6m-sit; no intellectual disability; no seizures; no eye involvement; CK level 1694-28850 IU/L; MRI brain normal; EMG-myogenic, neurogenic; IHC reduced DAG; ECG sinoatrial block
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination 12y1m (12 years, 1 month)
Age/Diagnosis -
Age/Onset 1d
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 2021-11-10 16:44:31 +01:00 (CET)
Date last edited N/A

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