Phenotype #0000052837 - Global Variome shared LOVD

Global Variome shared LOVD

KLHL40 (kelch-like family member 40)

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curators: Gianina Ravenscroft, Nigel Laing, Naomichi Matsumoto, and Satoko Miyatake

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Phenotype #0000052837

Individual ID	00073167
Associated disease	?
Diagnosis/Initial	dysferlinopathy
Diagnosis/Definite	-
Phenotype details	Difficulty running (HP:0009046), Limb-girdle muscular dystrophy (HP:0006785), no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)
Inheritance	Familial, autosomal recessive
Age/Examination	41y (41 years)
Age/Diagnosis	-
Age/Onset	26y
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	2016-06-09 11:47:18 +02:00 (CEST)
Date last edited	2017-09-08 13:02:04 +02:00 (CEST)

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