Phenotype #0000045703

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00057918
Associated disease	PN
Phenotype details	Poikiloderma, palmoplantar hyperkeratosis, nail toes abnormalities, multiple bone fractures and calcification, neutropenia, chronic haemolysis, recurrent infections since infancy, atrophic polychondritis
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	36y (36 years)
Age/Diagnosis	36y
Age/Onset	<01y
Phenotype/Onset	-
Protein	-
Owner name	Elisa Adele Colombo
Database submission license	No license selected
Created by	Elisa Adele Colombo
Date created	2016-02-23 16:13:57 +01:00 (CET)
Date last edited	N/A

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