Phenotype #0000041386

Global Variome shared LOVD

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

Individual ID	00054707
Associated disease	MDC
Phenotype details	infantile hypotonia, omphalocoele, gross motor delay, walked age 2y, mild facial weakness, distal laxity, contractures; CPK mild elevation (254); IHC COLVI; histology dystrophic
Diagnosis/Initial	-
Diagnosis/Definite	-
Inheritance	Familial, autosomal dominant
Age/Examination	11y (11 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Shireen Lamandé
Database submission license	No license selected
Created by	Shireen Lamandé
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.