Disease #00864

Official abbreviation DFNB-4
Name deafness, autosomal recessive, type 4 (DFNB-4), with enlarged vestibular aqueduct
OMIM ID 600791
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 19
Phenotype entries for this disease 19
Associated with 3 genes FOXI1, KCNJ10, SLC26A4
Associated tissues -
Disease features -
Remarks -


Individuals

19 entries on 1 page. Showing entries 1 - 19.
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00080733 - PubMed: Yang 2007, Journal: Yang 2007 2-generation family, 1 affcted, unaffected heterozygous carrier parents and brother F - United States - - 0 - - DFNB-4 - FOXI1, SLC26A4 FOXI1, SLC26A4 2 1 Johan den Dunnen
00080735 - PubMed: Yang 2007, Journal: Yang 2007 - - - United States - - 0 - - DFNB-4 enlargement vestibular aqueduct with/without cochlear dysplasia FOXI1, SLC26A4 FOXI1 1 1 Johan den Dunnen
00080736 - PubMed: Yang 2007, Journal: Yang 2007 - - - United States - - 0 - - DFNB-4 enlargement vestibular aqueduct with/without cochlear dysplasia FOXI1, SLC26A4 FOXI1 1 1 Johan den Dunnen
00080737 - PubMed: Yang 2007, Journal: Yang 2007 - - - United States - - 0 - - DFNB-4 enlargement vestibular aqueduct with/without cochlear dysplasia FOXI1, SLC26A4 FOXI1 1 1 Johan den Dunnen
00080738 - PubMed: Yang 2007, Journal: Yang 2007 - - - United States - - 0 - - DFNB-4 enlargement vestibular aqueduct with/without cochlear dysplasia FOXI1, SLC26A4 FOXI1 1 1 Johan den Dunnen
00080739 - PubMed: Yang 2007, Journal: Yang 2007 - - - United States - - 0 - - DFNB-4 enlargement vestibular aqueduct with/without cochlear dysplasia FOXI1, SLC26A4 FOXI1 1 1 Johan den Dunnen
00080743 - PubMed: Yang 2007, Journal: Yang 2007 - - - United States - - 0 - - DFNB-4 enlargement vestibular aqueduct with/without cochlear dysplasia SLC26A4 SLC26A4 1 1 Johan den Dunnen
00080744 - PubMed: Yang 2007, Journal: Yang 2007 - - - United States - - 0 - - DFNB-4 enlargement vestibular aqueduct with/without cochlear dysplasia SLC26A4 SLC26A4 1 1 Johan den Dunnen
00080745 - PubMed: Yang 2007, Journal: Yang 2007 - - - United States - - 0 - - DFNB-4 enlargement vestibular aqueduct with/without cochlear dysplasia SLC26A4 SLC26A4 1 1 Johan den Dunnen
00080746 - PubMed: Yang 2007, Journal: Yang 2007 - - - United States - - 0 - - DFNB-4 enlargement vestibular aqueduct with/without cochlear dysplasia SLC26A4 SLC26A4 1 1 Johan den Dunnen
00080747 - PubMed: Yang 2007, Journal: Yang 2007 - - - United States - - 0 - - DFNB-4 enlargement vestibular aqueduct with/without cochlear dysplasia SLC26A4 SLC26A4 1 1 Johan den Dunnen
00080748 - PubMed: Yang 2007, Journal: Yang 2007 - - - United States - - 0 - - DFNB-4 enlargement vestibular aqueduct with/without cochlear dysplasia SLC26A4 SLC26A4 1 1 Johan den Dunnen
00080749 - PubMed: Yang 2007, Journal: Yang 2007 - - - United States - - 0 - - DFNB-4 enlargement vestibular aqueduct with/without cochlear dysplasia SLC26A4 SLC26A4 1 1 Johan den Dunnen
00080750 - PubMed: Yang 2007, Journal: Yang 2007 - - - United States - - 0 - - DFNB-4 enlargement vestibular aqueduct with/without cochlear dysplasia SLC26A4 SLC26A4 1 1 Johan den Dunnen
00080751 - PubMed: Yang 2007, Journal: Yang 2007 - - - United States - - 0 - - DFNB-4 enlargement vestibular aqueduct with/without cochlear dysplasia SLC26A4 SLC26A4 1 1 Johan den Dunnen
00087237 - - - M no - Chinese - 0 - - DFNB-4 HP:0011387,HP:0000399,HP:0011476 FOXI1, KCNJ10, SLC26A4 SLC26A4 2 1 Yalan Liu
00087238 - - - M no - Chinese - 0 - - DFNB-4 HP:0011387,HP:0000399,HP:0011476 FOXI1, KCNJ10, SLC26A4 FOXI1 1 1 Yalan Liu
00087239 - - - M no - Chinese - 0 - - DFNB-4 HP:0011387,HP:0000399,HP:0011476 FOXI1, KCNJ10, SLC26A4 - 0 1 Yalan Liu
00163814 - - - M yes - - - 0 - - DFNB-4 - - SLC26A4 1 1 Nada Danial-Farran
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