Phenotype #0000041352

Global Variome shared LOVD

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

Individual ID	00054673
Associated disease	MDC
Phenotype details	infantile hypotonia, eventration of diaphragm, gross motor delay, mild facial weakness, ptosis, ophthalmoplegia, contractures, gastrostomy fed; CPK normal; IHC alphaDG; histology dystrophic
Diagnosis/Initial	-
Diagnosis/Definite	-
Inheritance	Familial, autosomal dominant
Age/Examination	22y (22 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Sandra Cooper
Database submission license	No license selected
Created by	Sandra Cooper
Date created	2015-11-08 12:06:11 +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.