Phenotype #0000288736

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00395538
Associated disease	MD
Phenotype details	developmental delay; OFC <P3; max. mobility sit without support; joint contractures; speech single word; intellectual disability; raised CK Not detectedIU/L; no cardiovascular involvement; no ocular involvement;
Diagnosis/Initial	MEB-like
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMD1E
Age/Examination	6y (6 years)
Age/Diagnosis	-
Age/Onset	8m
Phenotype/Onset	developmental delay
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-12-07 17:31:19 +01:00 (CET)
Date last edited	N/A

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