Phenotype #0000288831

Global Variome shared LOVD

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

Individual ID	00395632
Associated disease	LGMD
Phenotype details	lower limbs proximal MRC 2-3, lower limbs distal MRC 5, upper limbs proximal MRC 3-4, upper limbs distal MRC 5, CK level raised x3, scapular winging, FVC 0.85, not wheelchair bound
Diagnosis/Initial	LGMD, adult onset
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMDR21
Age/Examination	59y (59 years)
Age/Diagnosis	-
Age/Onset	30y-40y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-12-08 15:59:29 +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.