Phenotype #0000340328

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00451667
Associated disease	MDDGB14
Phenotype details	Myopathy, Motor delay, Gait disturbance, Lower limb muscle weakness, Elevated circulating creatine kinase concentration, CK elevation ~2300 U/l, known consanguinity of the parents (1st cousin), three siblings of the mother died at 6-12 months of age
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	07y (7 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Andreas Laner
Database submission license
Created by	Andreas Laner
Date created	2024-06-25 16:53:14 +02:00 (CEST)
Date last edited	2024-06-27 12:23:55 +02:00 (CEST)