Phenotype #0000052844

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00073174
Associated disease	?
Diagnosis/Initial	dysferlinopathy
Diagnosis/Definite	-
Phenotype details	Difficulty climbing stairs (HP:0003551), Limb-girdle muscular dystrophy (HP:0006785), no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)
Inheritance	Familial, autosomal recessive
Age/Examination	43y (43 years)
Age/Diagnosis	-
Age/Onset	36y
Phenotype/Onset	Difficulty climbing stairs (HP:0003551)
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Pieter Klap
Database submission license	No license selected
Created by	Pieter Klap
Date created	2016-06-09 13:06:11 +02:00 (CEST)
Date last edited	2017-09-08 13:02:04 +02:00 (CEST)