Phenotype #0000092142

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00116697
Associated disease	IFAP1
Phenotype details	congenital alopecia. photophobia. seizures. bilateral cryptorchidism. generalized skin dryness. thickened nails. delayed bone age. growth retardation. psychomotor retardation; IFAP syndrome; intellectual disability
Diagnosis/Initial	-
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	05y (5 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Emmelien Aten
Database submission license	No license selected
Created by	Emmelien Aten
Date created	2011-01-16 20:37:22 +01:00 (CET)
Date last edited	2017-08-08 19:45:17 +02:00 (CEST)

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