Phenotype #0000284162

Individual ID 00390625
Associated disease MDDG
Phenotype details congenital muscular dystrophy, no mental retardation; 2y-walk, 5y-run; no contractures; no intellectual disability; no seizures; no eye involvement; CK level 2113 IU/L; MRI brain left ventricle enlargement; EMG myogenic; muscle biopsy muscular dystrophy
Diagnosis/Initial congenital muscular dystrophy, no mental retardation
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination 5y (5 years)
Age/Diagnosis -
Age/Onset 6m
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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