Global Variome shared LOVD

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Phenotype #0000284088 Individual ID 00390551 Associated disease MDDG Phenotype details muscle-eye-brain disease; 3y6m-sit; contractures ankle; intellectual disability; seizures; Nystagmus, VEP amplitude decreased with prolonged latency; CK level 5190 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 4y2m (4 years, 2 months) Age/Diagnosis - Age/Onset <0d 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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