Phenotype #0000023256

Global Variome shared LOVD

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

Individual ID	00027185
Associated disease	CNM
Phenotype details	severe hypotonia since birth; needed tracheostomy; 24 hr mechanical ventilation; gastrostomy; dilated cardiomyopathy; congestive cardiac failure in neonatal age was treated with digoxin and captopril; hypotrophic myofibers, marked increase in central nuclei
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	06y (6 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2014-12-24 13:23:32 +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.