Phenotype #0000207414

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00269610
Associated disease	DFNB32
Diagnosis/Initial	Non-syndromic hearing loss
Diagnosis/Definite	Non-syndromic hearing loss
Phenotype details	CDC14A has been recognized to cause hearing impairment and infertile male syndrome (HIIMS). We currently do not know the potential impact of the variant on the fertility of the two males in this family.
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Barbara Vona
Database submission license
Created by	Barbara Vona
Date created	2019-12-03 11:45:51 +01:00 (CET)
Date last edited	2019-12-04 11:10:03 +01:00 (CET)