Phenotype #0000122639

Global Variome shared LOVD

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

Individual ID	00150235
Associated disease	TIDAND
Phenotype details	born with complete absence scalp hair /eyebrows / eyelashes; dystrophic nails, no thymic shadow on X-ray; striking impairment T-cell function (1 sister died 12m, other sister received bone marrow transplant)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2018-01-13 14:45:18 +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.