Phenotype #0000288734

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00395536
Associated disease	MD
Phenotype details	abnormal gait; OFC <P3; max. mobility run, jump (slightly poor); no joint contractures; normal speech; intellectual disability; raised CK 3,200-5,193IU/L; no cardiovascular involvement; no ocular involvement; MRI brain normal
Diagnosis/Initial	LGMD
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMD1B
Age/Examination	11y (11 years)
Age/Diagnosis	-
Age/Onset	4y
Phenotype/Onset	abnormal gait
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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