Phenotype #0000086889

Global Variome shared LOVD

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

Individual ID	00109416
Associated disease	UCMD
Phenotype details	progressive weakness, distal finger hyperlaxity, contractures of elbows, knees/ankles, mild scoliosis, mild keratosis pilaris; wheelchair-bound teens; FVC 0.31
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	24y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Sandra Donkervoort
Database submission license	No license selected
Created by	Sandra Donkervoort
Date created	2014-07-10 10:03:03 +02:00 (CEST)
Date last edited	2014-07-11 16:10:10 +02:00 (CEST)

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