Phenotype #0000201928

Global Variome shared LOVD

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

Individual ID	00073166
Associated disease	LGMDR2;LGMD2B
Phenotype details	muscular dystrophy (HP:0003560), elevated serum creatine phosphokinase (HP:0003236), lower limb muscle weakness (HP:0007340)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMD-2B
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2019-09-10 11:31:11 +02:00 (CEST)
Date last edited	N/A

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