Global Variome shared LOVD

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Phenotype #0000284099 Individual ID 00390562 Associated disease MDDG Phenotype details deceased; congenital muscular dystrophy, mental retardation; 4y6m-sit; contractures knee; intellectual disability; no seizures; Poor vision; CK level 6620 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia; EMG myogenic; EGC normal; UCG normal Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 12y (12 years) 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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