Phenotype #0000332046

Global Variome shared LOVD

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

Individual ID	00442699
Associated disease	NMD
Diagnosis/Initial	Congenital fiber type disproportion
Diagnosis/Definite	-
Phenotype details	Proximal myopathy with intermittent ptosis; increase in fiber size variation
Inheritance	Familial, autosomal dominant
Age/Examination	25y (25 years)
Age/Diagnosis	-
Age/Onset	1y
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-11-23 18:48:51 +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.