Phenotype #0000069482

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00090109
Associated disease	PN
Phenotype details	poikiloderma; neutropenia since Birth; recurrent sinopulmonary infections; hyperkeratosis; calcinosis cutis; nail dystrophy
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	02y? (approximately 2 years)
Age/Diagnosis	-
Age/Onset	00y02m
Phenotype/Onset	-
Protein	-
Owner name	Elisa Adele Colombo
Database submission license	No license selected
Created by	Elisa Adele Colombo
Date created	2016-12-05 16:26:16 +01:00 (CET)
Date last edited	N/A

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