Phenotype #0000314379

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

	Curator: Global Variome, with Curator vacancy

Individual ID	00423175
Associated disease	myotonia
Phenotype details	lid-lag phenomenon, lower limbs muscles hypertrophy
Diagnosis/Initial	myotonia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	myotonia congenita, recessive
Age/Examination	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-11-11 15:22:50 +01:00 (CET)
Date last edited	N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.