Phenotype #0000203330

Global Variome shared LOVD

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

Individual ID	00265543
Associated disease	MD
Phenotype details	see paper; …, hyper CKemia
Diagnosis/Initial	dysferlinopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MMD1
Age/Examination	-
Age/Diagnosis	24y
Age/Onset	10y-20y
Phenotype/Onset	hyper CKemia
Protein	-
Owner name	Rumiko Izumi
Database submission license
Created by	Johan den Dunnen
Date created	2019-08-23 12:48:12 +02:00 (CEST)
Date last edited	2020-05-02 19:18:19 +02:00 (CEST)

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