Phenotype #0000045723

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00059215
Associated disease	PN
Phenotype details	diagnosed as affected with Rothmund-Thomson syndrome; poikiloderma (<2y), nail dystrophy, low neutrophil count, hypo-cellular bone marrow
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	?
Age/Diagnosis	-
Age/Onset	<02y
Phenotype/Onset	-
Protein	-
Owner name	Elisa Adele Colombo
Database submission license	No license selected
Created by	Elisa Adele Colombo
Date created	2016-03-03 12:56:29 +01:00 (CET)
Date last edited	2016-03-18 15:46:59 +01:00 (CET)

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