Phenotype #0000092159

Global Variome shared LOVD

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

Individual ID	00116639
Associated disease	IFAP1
Phenotype details	Dry skin at birth. Follicular keratosis (inflamed) and hair-loss from 3 mo. of age. Alopecia totalis. Photophobia. Psychomotor development normal. The boyÂ´s maternal uncle reportedly has a similar phenotype but did not wish to be investigated; IFAP syndrome
Diagnosis/Initial	-
Inheritance	Familial
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Karl-Heinz Grzeschik
Database submission license	No license selected
Created by	Karl-Heinz Grzeschik
Date created	2012-11-27 11:39:15 +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.