Phenotype #0000124543

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00152200
Associated disease	MEB
Phenotype details	seizures, severe hydrocephaly, brain changes; CPK 1000; onset neonatal; able to sit with support
Diagnosis/Initial	muscle-eye-brain disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MDDGA-3
Age/Examination	02y (2 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Rosário dos Santos
Database submission license
Created by	Johan den Dunnen
Date created	2008-08-14 16:36:26 +02:00 (CEST)
Date last edited	2018-02-03 13:38:02 +01:00 (CET)

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