Phenotype #0000043162

Global Variome shared LOVD

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

Individual ID	00056474
Associated disease	LGMD2
Phenotype details	no prenatal findings; mild intellectual delay; epilepsy; no ophthalmologic findings; no cardiorespiratory findings; brain MRI no structural abnormality; max motor ability run
Diagnosis/Initial	-
Diagnosis/Definite	-
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Onset	0d
Phenotype/Onset	hypotonia; microcephaly
Age/Diagnosis	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2013-07-23 22:58:32 +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.