Phenotype #0000053571

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00073755
Associated disease	LGMDR2;LGMD2B
Phenotype details	Difficulty running (HP:0009046), Waddling gait (HP:0002515), Pelvic girdle muscle weakness (HP:0003749), Muscular dystrophy (HP:0003560), Absent muscle fiber dysferlin (HP:0030114)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	25y
Phenotype/Onset	Difficulty running (HP:0009046)
Protein	-
Owner name	Pieter Klap
Database submission license	No license selected
Created by	Pieter Klap
Date created	2016-06-23 12:26:35 +02:00 (CEST)
Date last edited	2016-10-11 12:31:54 +02:00 (CEST)

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