Disease #05399 (DFNB32 (deafness, autosomal recessive, type 32 (DFNB-32)), OMIM:608653)

Official abbreviation DFNB32
Name deafness, autosomal recessive, type 32 (DFNB-32)
OMIM ID 608653
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene CDC14A
Associated tissues -
Disease features autosomal recessive, deafness (female/male), male infertility
Remarks -
Date created 2018-02-24 17:17:28 +01:00 (CET)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00269609 ?;Fam9PatIV8 PubMed: Doll 2020, PubMed: Lin 2023, Journal: Lin 2023 sister F yes Iran - - - - - DFNB32 Congenital onset, severe-to-profound hearing loss CDC14A CDC14A, OGDHL 2 1 Barbara Vona
00269610 - PubMed: Doll 2020 family, two affected males M yes Pakistan - - - - - DFNB32 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. CDC14A CDC14A 1 2 Barbara Vona
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.