Phenotype #0000002857

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00004063
Associated disease	MDDGA7
Phenotype details	muscle-eye-brain disease (MEB); cobblestone lissencephaly; hydrocephalus; no encephalocele; cerebellar abnormalities; no microphthalmia, retinal detachment; bilateral congenital cataract; synechiae; muscular dystrophy, hypotonia
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
CK-level	1,929
Protein	DAG1 reduced
Owner name	Johan den Dunnen
Database submission 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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