Disease #05086

Official abbreviation HL
Name hearing loss (HL)
OMIM ID -
Individuals reported having this disease 14
Phenotype entries for this disease 14
Associated with 3 genes FAM179A, GRAP, MPZL2
Associated tissues -
Disease features -
Remarks -


Individuals

14 entries on 1 page. Showing entries 1 - 14.
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00016188 24729539-Fam PubMed: Azaiez 2014 4-generation family, 13 affecteds (5F, 8M) F;M no United States Caucasian - 0 - - HL - TBC1D24 TBC1D24 1 13 Hela Azaiez
00081324 - - - F no Korea, South (Republic) Korean - 0 - - HL - CDH23 CDH23 2 1 Bong Jik Kim
00081326 - PubMed: Kim 2015 2-generation family, 1 affected, unaffected parents F no Korea - - 0 - - HL - CDH23 CDH23 2 1 Bong Jik Kim
00081425 - - - - - Korea - - 0 - - HL - MYH14 MYH14 2 1 Bong Jik Kim
00107712 - - - - - - - - 0 - - HL Non-syndromic hearing loss LRP5 LRP5 1 1 Wenjun Xia
00181507 26264712-FamSH59-133 PubMed: Kim 2015 4-generation family, 1 affected, unaffected parents F - Korea - - 0 - - HL severe-to-profound autosomal recessive prelingual SNHL (arSNHL) with minimal residual hearing CDH23 CDH23 2 1 Johan den Dunnen
00181508 26264712-FamSH97-211 PubMed: Kim 2015 3-generation family, 1 affected, unaffected parents F - Korea - - 0 - - HL severe-to-profound autosomal recessive prelingual SNHL (arSNHL) with minimal residual hearing CDH23 CDH23 1 1 Johan den Dunnen
00181509 26264712-FamSH164-359 PubMed: Kim 2015 3-generation family, 1 affected, unaffected parents F - Korea - - 0 - - HL severe-to-profound autosomal recessive prelingual SNHL (arSNHL) with minimal residual hearing CDH23 CDH23 1 1 Johan den Dunnen
00183338 29982980-Fam1 PubMed: Bademci 2018 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M yes Turkey - - 0 - - HL see paper; ..., autosomal recessive nonsyndromic moderate hearing loss MPZL2 MPZL2 1 2 Johan den Dunnen
00183339 29982980-Fam2 PubMed: Bademci 2018 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M yes Turkey - - 0 - - HL see paper; ..., autosomal recessive nonsyndromic moderate hearing loss MPZL2 MPZL2 1 2 Johan den Dunnen
00183340 29982980-Fam3 PubMed: Bademci 2018 2-generation family, 4 affected (3F, M), unaffected heterozygous carrier father F;M yes Iran - - 0 - - HL see paper; ..., autosomal recessive nonsyndromic moderate hearing loss MPZL2 MPZL2 1 4 Johan den Dunnen
00183341 ASHG2018-P171 Bademci ASHG2018 P171 2 unrelated families - - Iran - - 0 - - HL autosomal recessive nonsyndromic moderate hearing loss GRAP GRAP 1 2 Johan den Dunnen
00183342 ASHG2018-P171 Bademci ASHG2018 P171 2 unrelated families - - Iran;Turkey - - 0 - - HL autosomal recessive nonsyndromic moderate hearing loss FAM179A FAM179A 1 2 Johan den Dunnen
00217299 - - - F no Korea, South (Republic) Korea 04y 0 - cochlear implant HL without platelet abnormality, so non-syndromic COCH DIAPH1 1 2 Bong Jik Kim
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