Global Variome shared LOVD

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Phenotype #0000284127 Individual ID 00390590 Associated disease MDDG Phenotype details muscle-eye-brain disease; 3y3m-sit; contractures knee; intellectual disability; no seizures; esotropia; CK level 3656-4602 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia; UCG normal Diagnosis/Initial muscle-eye-brain disease Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 4y5m (4 years, 5 months) Age/Diagnosis - Age/Onset 3m 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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