Phenotype #0000284114

Individual ID 00390577
Associated disease MDDG
Phenotype details muscle-eye-brain disease; 3y-sit; no contractures; intellectual disability; seizures; esotropia, optic nerve atrophy; CK level 5003-5403 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia, encephalocele; IHC no DAG; UCG atrial septal defect
Diagnosis/Initial limb-girdle muscular dystrophy
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination 4y2m (4 years, 2 months)
Age/Diagnosis -
Age/Onset <0d
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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