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 InternationalCreative Commons License
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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