Global Variome shared LOVD

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Phenotype #0000284089 Individual ID 00390552 Associated disease MDDG Phenotype details muscle-eye-brain disease; 1y6m-walk; no contractures; intellectual disability; seizures; esotropia, myopia, nystagmus; CK level 948-1973 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 12y2m (12 years, 2 months) Age/Diagnosis - Age/Onset 5m 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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