Phenotype #0000284102

Individual ID 00390565
Associated disease MDDG
Phenotype details congenital muscular dystrophy, mental retardation; 1y10m-walk, 2y5m-run; no contractures; intellectual disability; no seizures; no eye involvement; CK level 1674-13053 IU/L; MRI brain cerebellar abnormalities with or without brainstem hypoplasia; UCG normal
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination 6y6m (6 years, 6 months)
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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