Phenotype #0000052871

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00073200
Associated disease	?
Diagnosis/Initial	proximodistal myopathy
Diagnosis/Definite	-
Phenotype details	no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)
Inheritance	Familial, autosomal recessive
Age/Examination	21y (21 years)
Age/Diagnosis	-
Age/Onset	16y
Phenotype/Onset	Difficulty running (HP:0009046)
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Pieter Klap
Database submission license	No license selected
Created by	Pieter Klap
Date created	2016-06-10 10:01:51 +02:00 (CEST)
Date last edited	2017-09-08 13:02:04 +02:00 (CEST)

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