All individuals with variants in gene EYA4

48 entries on 1 page. Showing entries 1 - 48.
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00002993 - PubMed: Neveling 2013 - - - - - - - - - ? progressive hearing loss 2 1 Marcel Nelen
00019908 - PubMed: Gilissen 2014, PubMed: Stessman 2016, Journal: Stessman 2016 - M ? Netherlands - - - - - ID microcephaly (HP:0000252), feeding difficulties (HP:0011968), abnormality of vision (HP:0000252), no obesity (-HP:0001513); severe intellectual disability (HP:0010864); motor delay (HP:0001270); severe speech delay (HP:0000750) 1 1 Marianne Vos (LOVD-team)
00059025 - Karen Avraham laboratory, Tel Aviv university, Israel, unpublished - - no Israel Lybia;Jewish-Ashkenazi - - - - DFNA10 postlingual, onset 5-12y, progresses to severe-profound hearing loss 1 3 Zippi Brownstein
00059143 - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - DFNB;ARNSHL - 1 1 Manou Sommen
00283252 - PubMed: Ng 2013 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00283253 - PubMed: Sloan-Heggen 2016 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00283254 - PubMed: Ng 2013 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00283255 - PubMed: Ng 2013 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00283256 - PubMed: Duzkale 2013 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00283257 - PubMed: Duzkale 2013 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00283258 - PubMed: Neveling 2013 - - - - - - - - - HL - 1 1 Global Variome, with Curator vacancy
00283259 - PubMed: Ng 2013 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00283260 - PubMed: Frykholm 2015 - - - - - - - - - HL - 1 1 Global Variome, with Curator vacancy
00283261 - PubMed: Maron 2003, PubMed: Cirino 1993, PubMed: Elliott 2014 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00283262 - PubMed: Hershberger 1993, PubMed: Duzkale 2013 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00283263 - PubMed: Duzkale 2013 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00283264 - PubMed: Baek 2012 - - - - - - - - - HL - 1 1 Global Variome, with Curator vacancy
00283265 - PubMed: Duzkale 2013, PubMed: Ng 2013 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00283266 - PubMed: Ng 2013 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00283267 - PubMed: Duzkale 2013 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00283268 SH20-47 PubMed: Choi 2013 family, 5 affected - - Korea - - - - - HL see paper; ... 1 5 Global Variome, with Curator vacancy
00283269 - PubMed: Ng 2013 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00283270 - PubMed: Wayne 2001 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00283271 - PubMed: Makishima 2007 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00283272 - PubMed: Duzkale 2013 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00283273 - PubMed: Duzkale 2013 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00283274 - PubMed: Pfister 2002 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00283275 - PubMed: Kim 2015 - - - - - - - - - HL - 1 1 Global Variome, with Curator vacancy
00283276 - PubMed: Hildebrand 2007 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00283277 - PubMed: Duzkale 2013 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00283278 - PubMed: Tan 2014 - - - - - - - - - HL - 1 1 Global Variome, with Curator vacancy
00283279 - PubMed: Vona 2014 - - - - - - - - - HL - 1 1 Global Variome, with Curator vacancy
00283280 - PubMed: Duzkale 2013, PubMed: Ng 2013 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00283281 - PubMed: Ng 2013 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00283282 - PubMed: Ng 2013 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00283283 - PubMed: Wayne 2001, PubMed: Duzkale 2013 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00283284 - PubMed: Wayne 2001, PubMed: Shearer 1993, PubMed: Duzkale 2013 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00283285 - PubMed: Wayne 2001, PubMed: Xiong 2015 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00283286 - PubMed: Neveling 2013 - - - - - - - - - HL - 1 1 Global Variome, with Curator vacancy
00320009 - PubMed: Mi 2021, Journal: Mi 2021 - M no China chinese - - - - deafness postlingual onset, progressive hearing loss 1 5 Hong-En Xu
00326996 SB302-604 PubMed: Kim 2022, Journal: Kim 2022 - - - Korea, South (Republic) - - - - - DFNA1 - 1 1 So Young Kim
00361730 - - - F yes China Han - - - - HL non‐syndromic hearing loss 1 5 Juanmei Yang
00377113 175355 - - F no Germany - - - - - DFNA10 Abnormality of the inner ear, Sensorineural hearing impairment, Functional abnormality of the inner ear 1 1 Andreas Laner
00441477 FamA PubMed: Chen 2021 3-generation family, 5 affected (3F, 2M) F;M - China - - - - - HL see paper; ... 1 5 Johan den Dunnen
00441478 FamB PubMed: Chen 2021 3-generation family, 13 affected (*F, 5M) F;M - China - - - - - HL see paper; ... 1 13 Johan den Dunnen
00441486 PAR057 PubMed: Boucher 2020 - - - France - - - - - HL - 1 1 Johan den Dunnen
00446839 Pat137 PubMed: Miszalski-Jamka 2017 case solved - - - - - - - - LVNC - 1 1 Johan den Dunnen
00446871 Pat183 PubMed: Miszalski-Jamka 2017 case solved - - - - - - - - LVNC - 1 1 Johan den Dunnen
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