Phenotype #0000352069

Individual ID	00466706
Associated disease	IFAP
Diagnosis/Initial	IFAP syndrome
Diagnosis/Definite	IFAP1
Phenotype details	see paper; ..., ichthyotic skin, Hirschsprung disease, atrial septal defects,syrinx at cervicomedullary junction; hyperkeratotic eyelids, madarosis, lagophthalmos,otherwise clear corneas; bilateral central corneal epithelial defects; bilateral limbal thickening, peripheral corneal pannus with underlying stromal scarring, late fluorescein staining corneal surface; abnormal hyperreflective epithelial surface overlying thinned corneal stroma
Inheritance	Familial, X-linked recessive
Age/Examination	06y (6 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-09-23 15:11:03 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD