Phenotype #0000230332

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00303248
Associated disease	IFAP
Diagnosis/Initial	IFAP syndrome
Diagnosis/Definite	-
Phenotype details	atrichia; ichthyosis follicularis, nail dystrophy, periorificial hyperkeratosis, hyperkeratotic plaques on Achilles tendon, knee and dorsal hands; photophobia, Meibomian gland dysfunction, cataract
Inheritance	Isolated (sporadic)
Age/Examination	15y (15 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-06-08 19:48:29 +02:00 (CEST)
Date last edited	N/A

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