Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000284087 Individual ID 00390550 Associated disease MDDG Phenotype details muscle-eye-brain disease; 3y6m-walk supported; no contractures; intellectual disability; no seizures; Optic nerve atrophy, retinal atrophy, macular dysplasia; CK level 569 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia; EGC normal; UCG normal Diagnosis/Initial congenital muscular dystrophy, no mental retardation Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 4y3m (4 years, 3 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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