Global Variome shared LOVD

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Phenotype #0000284091 Individual ID 00390554 Associated disease MDDG Phenotype details muscle-eye-brain disease; 1y6m-sit; contractures ankle, knee; intellectual disability; no seizures; esotropia; CK level 2375-6333 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia, hydrocephalus; EMG myogenic; IHC reduced DAG; EGC normal; UCG normal Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 2y5m (2 years, 5 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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