Phenotype #0000284104

Individual ID 00390567
Associated disease MDDG
Phenotype details limb-girdle muscular dystrophy, mental retardation; 1y6m-walk; no contractures; intellectual disability; no seizures; CK level 6742-8000 IU/L; MRI brain normal; EMG myogenic; muscle biopsy muscular dystrophy; ECG-sinus arrhythmia; UCG-normal
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination 9y9m (9 years, 9 months)
Age/Diagnosis -
Age/Onset 1y6m
Phenotype/Onset fall down frequently
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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