Phenotype #0000125514

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00152552
Associated disease	MEB
Phenotype details	see paper; ..., infatile spasms, hydrocephaly, brain MRI changes; CPK 550; onset neonatal
Diagnosis/Initial	muscle-eye-brain disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MDDGA-3
Age/Examination	02y07m (2 years, 7 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2018-02-03 13:02:43 +01:00 (CET)
Date last edited	2018-02-03 13:09:22 +01:00 (CET)

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