Disease #05086

Official abbreviation HL
Name hearing loss (HL)
OMIM ID -
Inheritance -
Individuals reported having this disease 59
Phenotype entries for this disease 18
Associated with 3 genes FAM179A, GRAP, MPZL2
Associated tissues -
Disease features -
Remarks -


Individuals

59 entries on 1 page. Showing entries 1 - 59.
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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
00248370 - Tabatabaei 2019, submitted frequency marker D13S046 - - Iran - - 0 - - HL - GJB2 - 1 1 Zahra Tabatabaei
00261206 Fam1 PubMed: Morgan 2019 3-generation family, 3 affected (2F, M) F;M - - Europe - 0 - - HL see paper; … PLS1 PLS1 1 3 Johan den Dunnen
00261207 Fam2 PubMed: Morgan 2019 4-generation family, 16 affected (6F, 10M) F;M - - Europe - 0 - - HL see paper; … PLS1 PLS1, PPP2R2A, TEX15 3 16 Johan den Dunnen
00261208 Fam3 PubMed: Morgan 2019 3-generation family, 3 affected (F, 2M) F;M - - Europe - 0 - - HL see paper; … PLS1 PLS1 1 3 Johan den Dunnen
00263437 - Tabatabaei 2019, submitted frequency marker D13S046 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00263438 - Tabatabaei 2019, submitted frequency marker D13S046 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00263439 - Tabatabaei 2019, submitted frequency marker D13S046 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00263440 - Tabatabaei 2019, submitted frequency marker D13S046 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00263441 - Tabatabaei 2019, submitted frequency marker D13S046 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00263442 - Tabatabaei 2019, submitted frequency marker D13S046 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00263443 - Tabatabaei 2019, submitted frequency marker D13S046 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00263444 - Tabatabaei 2019, submitted frequency marker D13S046 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00263445 - Tabatabaei 2019, submitted frequency marker D13S046 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00263446 - Tabatabaei 2019, submitted frequency marker D13S046 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00263447 - Tabatabaei 2019, submitted frequency marker D13S046 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00263448 - Tabatabaei 2019, submitted frequency marker D13S1366 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00263449 - Tabatabaei 2019, submitted frequency marker D13S1366 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00263450 - Tabatabaei 2019, submitted frequency marker D13S1366 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00263451 - Tabatabaei 2019, submitted frequency marker D13S1366 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00263452 - Tabatabaei 2019, submitted frequency marker D13S1366 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00263453 - Tabatabaei 2019, submitted frequency marker D13S1366 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00263454 - Tabatabaei 2019, submitted frequency marker D13S1366 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00263455 - Tabatabaei 2019, submitted frequency marker D13S1366 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00263456 - Tabatabaei 2019, submitted frequency marker D13S1366 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00263457 - Tabatabaei 2019, submitted frequency marker D13S1366 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00263458 - Tabatabaei 2019, submitted frequency marker D13S1366 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00265182 - Tabatabaei 2019, submitted frequency marker D13S870 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00265183 - Tabatabaei 2019, submitted frequency marker D13S870 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00265184 - Tabatabaei 2019, submitted frequency marker D13S870 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00265185 - Tabatabaei 2019, submitted frequency marker D13S870 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00265186 - Tabatabaei 2019, submitted frequency marker D13S870 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00265187 - Tabatabaei 2019, submitted frequency marker D13S870 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00265188 - Tabatabaei 2019, submitted frequency marker D13S870 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00265189 - Tabatabaei 2019, submitted frequency marker D13S1368 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00265190 - Tabatabaei 2019, submitted frequency marker D13S1368 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00265191 - Tabatabaei 2019, submitted frequency marker D13S1368 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00265192 - Tabatabaei 2019, submitted frequency marker D13S1368 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00265193 - Tabatabaei 2019, submitted frequency marker D13S1368 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00265194 - Tabatabaei 2019, submitted frequency marker D13S1368 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00265195 - Tabatabaei 2019, submitted frequency marker D13S1368 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00265196 - Tabatabaei 2019, submitted frequency marker D13S1368 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00265197 - Tabatabaei 2019, submitted frequency marker D13S1368 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00265198 - Tabatabaei 2019, submitted frequency marker D13S1368 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00265199 - Tabatabaei 2019, submitted frequency marker D13S1368 - - Iran - - 0 - - HL - - - 1 1 Zahra Tabatabaei
00265280 NSHLF1 PubMed - F yes Iran - 09y? 0 no none HL the patient was a seven-year-old female presenting with microcephaly, intellectual disability (mild mental retardation), bilateral sensorineural hearing loss and speech difficulty. TMC1 TMC1 1 1 Ehsan Razmara
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