Phenotype #0000017782

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00020019
Associated disease	FANCQ
Phenotype details	such as perinatal growth retardation, short stature, pronounced microcephaly, cafe¥-au-lait spots, an ostium-primum defect, biliary atresia with fibrosis of the liver, BMF;no spontaneous or UV-light-induced skin lesions
Diagnosis/Initial	-
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Arleen D. Auerbach
Database submission license	No license selected
Created by	Arleen D. Auerbach
Date created	2013-06-19 04:23:32 +02:00 (CEST)
Date last edited	2013-06-19 04:30:25 +02:00 (CEST)

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