Phenotype #0000167734

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00219191
Associated disease	DBA
Diagnosis/Initial	Diamond-Blackfan anemia
Diagnosis/Definite	DBA10
Phenotype details	inguinal hernia, missing vas deferens (unilateral), slightly abnormal epidymis, pronounced boney prominence of a cervical spinous process; unresponsive to steroid therapy, red blood cell transfusion
Inheritance	Familial, autosomal dominant
Age/Examination	-
Age/Diagnosis	00y08m
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Jacopo Celli
Date created	2010-07-22 11:45:08 +02:00 (CEST)
Date last edited	2021-04-20 16:26:06 +02:00 (CEST)

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