Global Variome shared LOVD

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Phenotype #0000284022 Individual ID 00390485 Associated disease MDDG Phenotype details congenital muscular dystrophy, mental retardation; 2y-walk; contractures knee; intellectual disability; seizures; no eye involvement; CK level 5270 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 3y4m (3 years, 4 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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