Phenotype #0000303952

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00411925
Associated disease	myotonia
Phenotype details	myotonia; EMG myotonia; warm-up phenomenon; myopathy hands, myopathy masseter, myopathy orbicularis oculi-oris; muscle weakness axial, hands>proximal up and lower limbs; no muscle hypertrophy; myopathy not painful; no episodic paralysis
Diagnosis/Initial	non-dystrophic myotonia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Onset	2y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-06-20 13:19:24 +02:00 (CEST)
Date last edited	N/A

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