Phenotype #0000068450

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00089040
Associated disease	PN
Phenotype details	poikiloderma, nail dystrophy, abnormal ear, short stature, developmental delay, low white blood cells, MDS changes
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Elisa Adele Colombo
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2016-11-28 16:58:22 +01:00 (CET)
Date last edited	N/A

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