All individuals with variants in gene SMPX

20 entries on 1 page. Showing entries 1 - 20.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 2 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 2 1 Yu Sun
00003003 - PubMed: Neveling 2013 - - - - - - - - - ? sensorineuralprogressive hearing loss with flat audiogram 1 1 Marcel Nelen
00059184 - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - DFNB;ARNSHL - 1 1 Manou Sommen
00080147 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - deafness - 1 1 Mieke Wesdorp
00100508 - - - - - China - - - - - SNHL - 1 1 Zhijie Niu
00112384 02200 - - M no United States North American - - - - deafness X-linked nonsyndromic progressive hearing loss 1 3 N Cobbler
00117281 S1617 PubMed: Baux 2017, Journal: Baux 2017 Proband M no France - - - - - deafness - 1 1 David Baux
00285756 - PubMed: Neveling 2013 - - - - - - - - - HL - 1 1 Global Variome, with Curator vacancy
00309890 - - - M - - - - - - - ? Hearing impairment (HP:0000365) 1 1 IMGAG
00373707 family PubMed: Huebner 2011 5-generation family, 15 affected (9F, 6M) F;M - Germany - - - - - HL postlingual nonsyndromic hearing loss age onset 3y–7y males, initially, moderate hearing loss, especially high frequencies, progresses with age, affects all frequencies later; age onset second-third decade female carriers, patients present with severe hearing loss after 10–15 years; vestibular function was normal, and tinnitus was not reported by the affected individuals. No signs of a conductive hearing loss-component (no air-bone gaps) in pure-tone audiometry indicates normal middle-ear function; computed tomography, magnetic resonance imaging and digital volume tomography show normal middle-ear cavity with regular ossicles, normal mastoid, no signs of malformation; regular inner-ear structures had fluid-filled, normally shaped cochlea allowing later treatment by cochlear implantation 1 15 Johan den Dunnen
00373708 family PubMed: Huebner 2011, 4-generation family, affected (7F, 12M) F;M - Spain - - - - - HL postlingual nonsyndromic hearing loss, bilateral, symmetric, sensorineural, postlingual, progressive; affected males, high-frequency hearing loss onset 5y–7y, by adulthood severe or profound and involved all frequencies; females onset fourth decade of life, manifesting moderate hearing impairment high frequencies 1 19 Johan den Dunnen
00373709 W08-1701 PubMed: Schraders 2011, PubMed: Weegerink 2011 4-generation family, affected (14F, 11M) F;M - Netherlands - - - - - HL see paper; ..., postlingual progressive hearing impairment 1 25 Johan den Dunnen
00373710 W05-049 PubMed: Schraders 2011 3-generation family, 4 affected (4M), unaffected carrier female M - Netherlands Antilles - - - - - HL see paper; ... 1 4 Johan den Dunnen
00373711 Fam2024 PubMed: Abdelfatah 2013 6-generation family affected (22F, 17M) F;M - Canada - - - - - HL see paper; ... 1 39 Johan den Dunnen
00373712 Fam2196 PubMed: Abdelfatah 2013 5-generation family, 9 affected (3F, 6M) F;M - Canada - - - - - HL see paper; ... 1 9 Johan den Dunnen
00373791 FamPatII2 PubMed: Guo 2021, Journal: Guo 2021 4-generation family, 6 affected (3F, 3M) F no China - - - - - HL no noise exposure; hearing loss (HP:0000365) moderate (R), hearing loss (HP:0000365) moderately severe (L); shape audiogram sloping; tinnitus (HP:0000360); no vertigo (-HP:0002321) 1 6 Johan den Dunnen
00373794 FamPatIII3 PubMed: Guo 2021, Journal: Guo 2021 son of PatII2 M no China - - - - - HL no noise exposure; hearing loss (HP:0000365) mild (R),hearing loss (HP:0000365) moderate (L); shape audiogram sloping; no tinnitus (-HP:0000360); no vertigo (-HP:0002321) 1 1 Johan den Dunnen
00373795 FamPatIV1 PubMed: Guo 2021, Journal: Guo 2021 son of PatIII2 M no China - - - - - HL no noise exposure; hearing loss (HP:0000365) moderately severe; shape audiogram sloping; no tinnitus (-HP:0000360); no vertigo (-HP:0002321) 1 1 Johan den Dunnen
00373796 FamPatIV2 PubMed: Guo 2021, Journal: Guo 2021 daughter of PatIII2 F no China - - - - - HL no noise exposure; hearing loss (HP:0000365) profound; shape audiogram flat; no tinnitus (-HP:0000360); no vertigo (-HP:0002321) 1 1 Johan den Dunnen
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