Phenotype #0000092160

Individual ID	00116640
Associated disease	IFAP1
Phenotype details	IFAP triad and follicular hyperkeratosis present from infancy; no hair or eyelashes; corneal ulceration; poor teeth (? caries), poor nails (? chronic fungal infection); mild global developmental delay, generalised seizures, strabismus, macrocephaly (>90th centile) and frontal bossing; IFAP syndrome
Diagnosis/Initial	-
Inheritance	Familial, X-linked dominant, male sparing
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 12:03:26 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD