Phenotype #0000352073

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00466710
Associated disease	IFAP
Diagnosis/Initial	IFAP syndrome
Diagnosis/Definite	IFAP1
Phenotype details	see paper; ..., 2y-congenital alopecia, follicular keratosis, photophobia; global developmental delay; absence seizures; diffuse non-scarring alopecia scalp/eyebrows, normal eyelashes
Inheritance	Familial, X-linked recessive
Age/Examination	02y (2 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 18:55:31 +02:00 (CEST)
Date last edited	N/A

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