Global Variome shared LOVD

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Phenotype #0000284084 Individual ID 00390547 Associated disease MDDG Phenotype details muscle-eye-brain disease; 5y-turn over; contractures ankle, knee; intellectual disability; no seizures; Microphthalmia, microcornea, right cataract, left severe myopia, left optic nerve atrophy, and left retinal dysplasia; CK level 1514 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia, eptum pellucidum Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 12y5m (12 years, 5 months) Age/Diagnosis - Age/Onset 3m 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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