Global Variome shared LOVD

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Phenotype #0000284083 Individual ID 00390546 Associated disease MDDG Phenotype details deceased; muscle-eye-brain disease; 8m-lift head; contractures elbow, knee; intellectual disability; no seizures; Optic nerve atrophy, retinal atrophy, macular dysplasia; VEP ab waves disappear in both eyes; CK level 1022-3893 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia; EGC normal; UCG normal Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 5y7m (5 years, 7 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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