Global Variome shared LOVD

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Phenotype #0000284097 Individual ID 00390560 Associated disease MDDG Phenotype details deceased; Walker-Warburg syndrome; normal motor ability; contractures ankle, knee; intellectual disability; no seizures; Macropthalmia, congenital glaucoma?; CK level 2274-2122 IU/L; MRI brain ventriculomegaly, cerebellar abnormalities with or without brainstem hypoplasia, corpus callosum dysplasia; EGC normal; UCG normal Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 10m 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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