Phenotype #0000044574

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00057924
Associated disease	PN
Phenotype details	Poikiloderma, neutropenia, plantar hyperkeratosis with desquamation, pachyonychia, caries tendency, saddle nose, widening of femoral metaphysis, recurrent pulmonary infections, low stature (<3rd centile)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	10y
Age/Onset	00y06m
Phenotype/Onset	-
Protein	-
Owner name	Ludovica Volpi
Database submission license	No license selected
Created by	Ludovica Volpi
Date created	2011-09-14 16:56:03 +02:00 (CEST)
Date last edited	2016-02-23 17:17:29 +01:00 (CET)

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