Phenotype #0000053387

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00073653
Associated disease	MMD
Phenotype details	Lower limb amyotrophy (HP:0007210), inability to walk on tip-toes (HP:0004302), Gowers sign (HP:0003391), Areflexia of lower limbs (HP:0002522), Elevated serum creatine phosphokinase (HP:0003236),
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	32y (32 years)
Age/Diagnosis	-
Age/Onset	18y
Phenotype/Onset	-
Protein	-
Owner name	Pieter Klap
Database submission license	No license selected
Created by	Pieter Klap
Date created	2016-06-15 12:59:19 +02:00 (CEST)
Date last edited	2016-10-11 12:31:54 +02:00 (CEST)

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