Global Variome shared LOVD

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

Phenotype #0000002860 Individual ID 00004066 Associated disease MDDGA7 Phenotype details muscle-eye-brain disease (MEB); death >5.5y; pachygyria and polymicrogyria; no hydrocephalus; hypoplasia; no encephalocele; cerebellar abnormalities; no brainstem kinking; right microphthalmia, retinal detachment, optic atrophy; no congenital cataract; glaucoma; muscular dystrophy, hypotonia Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - CK-level 9,366 Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2012-05-20 10:48:47 +02:00 (CEST) Date last edited N/A

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