Phenotype #0000288733

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00395535
Associated disease	MD
Phenotype details	developmental delay; OFC <P25; max. mobility sit without support; joint contractures; speech single word; intellectual disability; raised CK 2,000-4,683IU/L; no cardiovascular involvement; esotropia; EMG myogenic change; MRI brain slightly enlarged bilateral ventricles
Diagnosis/Initial	CMD-ID
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMD1B
Age/Examination	5y (5 years)
Age/Diagnosis	-
Age/Onset	>1d
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