Phenotype #0000307324

Global Variome shared LOVD

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

Individual ID	00415543
Associated disease	MD
Phenotype details	congenital muscular dystrophy, suspected merosin deficiency
Diagnosis/Initial	congenital muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MDC1A
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-08-15 09:52:27 +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.