Phenotype #0000124541

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00152198
Associated disease	MEB
Phenotype details	spastic tetraparesis, no seizures, hydrocephaly, polymicrogyria; CPK increased; able to sit with support
Diagnosis/Initial	muscle-eye-brain disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MDDGA-3
Age/Examination	04y06m (4 years, 6 months)
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 13:13:17 +01:00 (CET)

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