Global Variome shared LOVD

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

Phenotype #0000083739 Individual ID 00105836 Associated disease DKCX;HHS Phenotype details X-linked recessive dyskeratosis congenita and Hoyeraal Hreidarsson syndrome Diagnosis/Initial - Inheritance Familial, X-linked recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name SIB - Livia Famiglietti Database submission license No license selected Created by SIB - Livia Famiglietti Date created 2012-03-01 16:08:42 +01:00 (CET) Date last edited 2018-01-04 16:18:58 +01:00 (CET)

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