Global Variome shared LOVD

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Phenotype #0000284098 Individual ID 00390561 Associated disease MDDG Phenotype details muscle-eye-brain disease; 3y-walk; no contractures; intellectual disability; seizures; esotropia, nystagmus; CK level 2675-6690 IU/L; MRI brain cerebellar abnormalities with or without brainstem hypoplasia; IHC reduced DAG Diagnosis/Initial congenital muscular dystrophy, mental retardation Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 5y6m (5 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 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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