Global Variome shared LOVD

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Phenotype #0000284090 Individual ID 00390553 Associated disease MDDG Phenotype details muscle-eye-brain disease; 3y-walk and run; contractures ankle; intellectual disability; no seizures; macular dysplasia; CK level 1542 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia; UGC tricuspid regurgitation Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 4y7m (4 years, 7 months) Age/Diagnosis - Age/Onset 6m Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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