Phenotype #0000036640

Global Variome shared LOVD

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

Individual ID	00049865
Associated disease	RTS2
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	-
Age/Examination	29y (29 years)
Diagnosis/Definite	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Phenotype details	poikiloderma, telangiectatic lesions, punctate atrophy, alopecia, saddle nose, short ulnae, osteopenia, short stature, squamous cell carcinoma, basal cell carcinoma
Protein	-
Owner name	Sabina Gallati, Prof.
Database submission license	No license selected
Created by	Sabina Gallati, Prof.
Date created	2015-09-13 15:45:18 +02:00 (CEST)
Date last edited	2016-01-26 02:44:19 +01:00 (CET)

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