Disease #00201 (INFM (infertility, male (INFM)))

Official abbreviation INFM
Name infertility, male (INFM)
OMIM ID -
Inheritance -
Individuals reported having this disease 261
Phenotype entries for this disease 225
Associated with 17 genes ACTL9, AKAP3, ARMC12, AURKC, C12orf55, CCDC34, CFAP61, CXorf59, DNHD1, DPY19L2, FKBP6, M1AP, MAATS1, MNS1, MSH4, MSH5, SSX1
Associated tissues -
Disease features -
Remarks -
Date created 2013-09-14 21:03:39 +02:00 (CEST)
Date last edited 2015-12-07 07:11:25 +01:00 (CET)


Individuals

261 entries on 3 pages. Showing entries 1 - 100.
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00002702 - PubMed: Sun 1999 - M - United States - - - - - INFM - USP9Y USP9Y 1 1 Johan den Dunnen
00002703 - PubMed: Sun 1999 infertile males M - United States - - - - - INFM - USP9Y USP9Y 1 3 Johan den Dunnen
00002704 - PubMed: Sun 1999 infertile males M - United States - - - - - INFM - USP9Y USP9Y 1 12 Johan den Dunnen
00002705 - PubMed: Sun 1999 unaffected brother WHT3394b M - United States - - - - - INFM - USP9Y USP9Y 1 1 Johan den Dunnen
00002981 - - - M - - - - - - - INFM - - - 1 2 Deborah Grazia Lo Giacco
00002982 - - - M - - - - - - - INFM - DDX3Y, USP9Y - 1 1 Deborah Grazia Lo Giacco
00002983 - - - M - - - - - - - INFM - - - 1 2 Deborah Grazia Lo Giacco
00002985 - Lo Giacco, submitted - M - - - - - - - INFM - CDY1, DAZ1, DAZ2, DAZ3, DAZ4 - 1 1 Deborah Grazia Lo Giacco
00002987 - Lo Giacco, submitted - M - - - - - - - INFM - CDY1, DAZ1, DAZ2, DAZ3, DAZ4 - 1 1 Deborah Grazia Lo Giacco
00002989 - - - M - - - - - - - INFM - CDY1, DAZ1, DAZ2, DAZ3, DAZ4 - 1 1 Deborah Grazia Lo Giacco
00002990 - Lo Giacco, submitted - - - - - - - - - INFM - CDY1, DAZ1, DAZ2, DAZ3, DAZ4 - 1 13 Deborah Grazia Lo Giacco
00002992 - - - M - - - - - - - INFM - CDY1, DAZ1, DAZ2, DAZ3, DAZ4 - 1 2 Deborah Grazia Lo Giacco
00003032 - - - M - - - - - - - INFM - - - 1 1 Deborah Grazia Lo Giacco
00003033 - - - M - - - - - - - INFM - - - 1 1 Deborah Grazia Lo Giacco
00003034 - - - M - - - - - - - INFM - - - 1 1 Deborah Grazia Lo Giacco
00003236 - PubMed: Foresta 2000 - M - Italy - - - - - INFM infertility, idopathic; sperm <5M/ml; testicular cytoloy severe hypospermatogenesis - - 1 1 Johan den Dunnen
00003237 - PubMed: Foresta 2000 - M - Italy - - - - - INFM infertility, idopathic; sperm <5M/ml; testicular cytoloy severe hypospermatogenesis - - 1 1 Johan den Dunnen
00003238 - PubMed: Foresta 2000 - M - Italy - - - - - INFM infertility, idopathic; sperm <5M/ml; testicular cytoloy severe hypospermatogenesis - - 1 1 Johan den Dunnen
00003239 - PubMed: Foresta 2000 - M - Italy - - - - - INFM infertility, idopathic; sperm <5M/ml; testicular cytoloy severe hypospermatogenesis - - 1 1 Johan den Dunnen
00003240 - PubMed: Foresta 2000 - M - Italy - - - - - INFM infertility, idopathic; sperm <5M/ml; testicular cytoloy severe hypospermatogenesis - - 1 1 Johan den Dunnen
00003241 - PubMed: Foresta 2000 - M - Italy - - - - - INFM infertility, idopathic; azoospermia; testicular cytoloy Sertoli cell-only syndrome - - 1 1 Johan den Dunnen
00003242 - PubMed: Foresta 2000 - M - Italy - - - - - INFM infertility, idopathic; azoospermia; testicular cytoloy Sertoli cell-only syndrome - - 1 1 Johan den Dunnen
00003243 - PubMed: Foresta 2000 - M - Italy - - - - - INFM infertility, idopathic; azoospermia; testicular cytoloy Sertoli cell-only syndrome - - 1 1 Johan den Dunnen
00003244 - PubMed: Foresta 2000 - M - Italy - - - - - INFM infertility, idopathic; azoospermia; testicular cytoloy Sertoli cell-only syndrome - - 1 1 Johan den Dunnen
00107535 FAM53-412 PubMed: Yildrim 2018 family, 7 affecteds (3M, 4F), parents first cousins M yes Algeria - >31y - Yes - BD, INFM male infertility (HP:0003251), azoospemia (HP:0000027), Symphalangism of the thumb (HP:0009656), symphalangism of the 2nd finger (HP:0009545), symphalangism of the 3rd finger (HP:0009445), no symphalangism of the 4th finger (-HP:0009857), symphalangism of the 5th finger (HP:0004218), thumb brachydactyly (HP:0009778), short 2nd finger (HP:0009536), 5th finger brachydactyly (HP:0009237), camptodactyly of the 3rd finger (HP:0009471), crowded carpal bones (HP:0006180), short hallux (HP:0010109), broad hallux (HP:0010055), hallux valgus (HP:0001822), 2-3 toe syndactyly (HP:0004691), no camptodactyly of toe (-HP:0001836), duplication of the phalanges of the 2nd toe (HP:0010355), aplasia/hypoplasia of the phalanges of the toes (HP:0010173) - ANK2, BMPR1B, PDHA2 3 7 Yeşerin Yıldırım
00115572 - - sex of rearing M rM - - - - - - - INFM low T, severe hypospematogenesis; genitalia normal; infertility, male AR AR 3 1 Bruce Gottlieb
00115584 - - sex of rearing M rM - - - - - - - INFM normal T, left cryptorchidism; genitalia normal; infertility, male AR AR 3 1 Bruce Gottlieb
00115598 - - sex of rearing M rM - - - - - - - INFM normal T; genitalia normal; infertility, male AR AR 3 1 Bruce Gottlieb
00115613 - - sex of rearing M; 2/62 patients with male infertility rM - - - - - - - INFM genitalia normal; male infertility AR AR 1 2 Bruce Gottlieb
00115703 - - sex of rearing M rM - - - - - - - INFM genitalia normal; infertility, male AR AR 1 1 Bruce Gottlieb
00115709 - - sex of rearing M rM - - - - - - - INFM genitalia normal; infertility, male AR AR 1 1 Bruce Gottlieb
00115713 - - sex of rearing M rM - - - - - - - INFM genitalia normal; infertility, male AR AR 1 1 Bruce Gottlieb
00115722 - - sex of rearing M rM - - - - - - - INFM genitalia normal; infertility, male AR AR 1 1 Bruce Gottlieb
00115747 - - sex of rearing M rM - - - - - - - INFM genitalia normal; infertility, male AR AR 1 1 Bruce Gottlieb
00115759 - - sex of rearing M rM - - - - - - - INFM genitalia normal; infertility, male AR AR 1 1 Bruce Gottlieb
00115763 - - sex of rearing M rM - - - - - - - INFM oligospermia; genitalia normal; Infertility, male AR AR 1 1 Bruce Gottlieb
00115786 - - sex of rearing M rM - - - - - - - INFM low T; genitalia normal; infertility, male AR AR 3 1 Bruce Gottlieb
00115798 - - sex of rearing M rM - - - - - - - INFM genitalia normal; infertility, male AR AR 1 1 Bruce Gottlieb
00115814 - - sex of rearing M rM - - - - - - - INFM genitalia normal; infertility, male AR AR 1 1 Bruce Gottlieb
00115897 - - sex of rearing M rM - - - - - - - INFM genitalia normal; infertility, male AR AR 1 1 Bruce Gottlieb
00115922 - - sex of rearing M rM - - - - - - - INFM genitalia normal; infertility, male AR AR 1 1 Bruce Gottlieb
00115968 - - sex of rearing M rM - - - - - - - INFM genitalia normal; infertility, male AR AR 1 1 Bruce Gottlieb
00115973 - - sex of rearing M rM - - - - - - - INFM genitalia normal; infertility, male AR AR 1 1 Bruce Gottlieb
00116009 - - sex of rearing M rM - - - - - - - INFM genitalia normal; infertility, male AR AR 1 1 Bruce Gottlieb
00116154 - - sex of rearing M rM - - - - - - - INFM genitalia normal; infertility, male AR AR 1 1 Bruce Gottlieb
00116321 - - sex of rearing M rM - - - - - - - INFM genitalia normal; infertility, male AR AR 1 1 Bruce Gottlieb
00116349 - - sex of rearing M rM - - - - - - - INFM genitalia normal; infertility, male AR AR 1 1 Bruce Gottlieb
00116404 - - sex of rearing M rM - - - - - - - INFM genitalia normal; infertility, male AR AR 1 1 Bruce Gottlieb
00116495 - - sex of rearing M rM - - - - - - - INFM genitalia normal; infertility, male AR AR 1 1 Bruce Gottlieb
00116526 - - sex of rearing M rM - - - - - - - INFM genitalia normal; infertility, male AR AR 1 1 Bruce Gottlieb
00133223 FAM53-401 PubMed: Yildrim 2018 - M yes Algeria - >43y - - - BD, INFM male infertility (HP:0003251), oligospermia (HP:0000798), asthenospermia (HP:0012207), Symphalangism of the thumb (HP:0009656), symphalangism of the 2nd finger (HP:0009545), symphalangism of the 3rd finger (HP:0009445), symphalangism of the 4th finger (HP:0009857), no symphalangism of the 5th finger (-HP:0004218), thumb brachydactyly (HP:0009778), 5th finger camptodactyly (HP:0009185), curved phalanges of the 2nd finger (HP:0009549), curved phalanges of the 3rd finger (HP:0009442), crowded carpal bones (HP:0006180), short hallux (HP:0010109), broad hallux (HP:0010055), hallux valgus (HP:0001822), 2-3 toe syndactyly (HP:0004691), no camptodactyly of toe (-HP:0001836), short 5th toe (HP:0011917), duplication of the phalanges of the 2nd toe (HP:0010355), aplasia/hypoplasia of the phalanges of the toes (HP:0010173) BMPR1B, PDHA2 BMPR1B, PDHA2 2 1 Yeşerin Yıldırım
00133226 FAM53-406 PubMed: Yildrim 2018 - M yes Algeria - >37y - - - BD, INFM male infertility (HP:0003251), azoospemia (HP:0000027), no symphalangism of the thumb (-HP:0009656), Symphalangism of the 2nd finger (HP:0009545), no symphalangism of the 3rd finger (-HP:0009445), no symphalangism of the 4th finger (-HP:0009857), no symphalangism of the 5th finger (-HP:0004218), no thumb brachydactyly (-HP:0009778), no short 2nd finger (-HP:0009536), no 5th finger brachydactyly (-HP:0009237), no camptodactyly of the 3rd finger (-HP:0009471), no 5th finger camptodactyly (-HP:0009185), no curved phalanges of the 2nd finger (-HP:0009549), no curved phalanges of the 3rd finger (-HP:0009442), crowded carpal bones (HP:0006180), short hallux (HP:0010109), broad hallux (HP:0010055), no hallux valgus (-HP:0001822), 2-3 toe syndactyly (HP:0004691), short 5th toe (HP:0011917), duplication of the phalanges of the 2nd toe (HP:0010355), aplasia/hypoplasia of the phalanges of the toes (HP:0010173), duplication of the phalanges of the 2nd toe (HP:0010355), aplasia/hypoplasia of the phalanges of the toes (HP:0010173) BMPR1B, PDHA2 BMPR1B, PDHA2 2 1 Yeşerin Yıldırım
00133227 FAM53-408 PubMed: Yildrim 2018 - F yes Algeria - >36y - - - BD, INFM Symphalangism of the thumb (HP:0009656), symphalangism of the 2nd finger (HP:0009545), no symphalangism of the 3rd finger (-HP:0009445), no symphalangism of the 4th finger (-HP:0009857), symphalangism of the 5th finger (HP:0004218), no thumb brachydactyly (-HP:0009778), crowded carpal bones unknown (?HP:0006180), short hallux (HP:0010109), broad hallux (HP:0010055), hallux valgus (HP:0001822), 2-3 toe syndactyly (HP:0004691), no camptodactyly of toe (-HP:0001836), no short 5th toe (-HP:0011917), duplication of the phalanges of the 2nd toe unknown (?HP:0010355), aplasia/hypoplasia of the phalanges of the toes unknown (?HP:0010173) BMPR1B, PDHA2 BMPR1B, PDHA2 2 1 Yeşerin Yıldırım
00133229 FAM53-409 PubMed: Yildrim 2018 brother M yes Algeria - >43y - - - BD, INFM no male infertility (-HP:0003251), no azoospemia (-HP:0000027), no oligospermia (-HP:0000798), no asthenospermia (-HP:0012207), Nonmotile sperm (HP:0012208), no symphalangism of the thumb (-HP:0009656), no symphalangism of the 2nd finger (-HP:0009545),no symphalangism of the 3rd finger (-HP:0009445), no symphalangism of the 4th finger (-HP:0009857), no symphalangism of the 5th finger (-HP:0004218), no thumb brachydactyly (-HP:0009778), no short 2nd finger (-HP:0009536), no 5th finger brachydactyly (-HP:0009237), no camptodactyly of the 3rd finger (-HP:0009471), no 5th finger camptodactyly (-HP:0009185), no curved phalanges of the 2nd finger (-HP:0009549), no curved phalanges of the 3rd finger (-HP:0009442), crowded carpal bones (HP:0006180), no short hallux (-HP:0010109), no broad hallux (-HP:0010055), no hallux valgus (-HP:0001822), no 2-3 toe syndactyly (-HP:0004691), no camptodactyly of 3rd toe (-HP:0100349), no camptodactyly of the 4th toe (-HP:0100350), no short 5th toe (-HP:0011917), no duplication of the phalanges of the 2nd toe (-HP:0010355), no aplasia/hypoplasia of the phalanges of the toes (-HP:0010173) BMPR1B, PDHA2 BMPR1B, PDHA2 2 1 Yeşerin Yıldırım
00133230 FAM53-413 PubMed: Yildrim 2018 - M yes Algeria - >30y - - - BD, INFM male infertility unknown (?HP:0003251), azoospemia unknown (?HP:0000027), oligospermia unknown (?HP:0000798), asthenospermia unknown (?HP:0012207), Nonmotile sperm unknown (?HP:0012208), no symphalangism of the thumb (-HP:0009656), no symphalangism of the 2nd finger (-HP:0009545),no symphalangism of the 3rd finger (-HP:0009445), no symphalangism of the 4th finger (-HP:0009857), no symphalangism of the 5th finger (-HP:0004218), no thumb brachydactyly (-HP:0009778),no short 2nd finger (-HP:0009536), no 5th finger brachydactyly (-HP:0009237), no camptodactyly of the 3rd finger (-HP:0009471), no 5th finger camptodactyly (-HP:0009185), no curved phalanges of the 2nd finger (-HP:0009549), no curved phalanges of the 3rd finger (-HP:0009442), crowded carpal bones (HP:0006180), no short hallux (-HP:0010109), no broad hallux (-HP:0010055), no hallux valgus (HP:0001822), no 2-3 toe syndactyly (-HP:0004691), camptodactyly of 3rd toe (HP:0100349), camptodactyly of the 4th toe (HP:0100350), no short 5th toe (-HP:0011917), no duplication of the phalanges of the 2nd toe (-HP:0010355), no aplasia/hypoplasia of the phalanges of the toes (-HP:0010173) BMPR1B, PDHA2 BMPR1B, PDHA2 2 1 Yeşerin Yıldırım
00154401 29330334-Pats PubMed: Chen 2018 3 unrelated patients (from 7 cases) M no China - - - - - INFM see paper; ..., acephalic spermatozoa (decaudated spermatozoa syndrome (DDS)) HOOK1 HOOK1 1 3 Johan den Dunnen
00230656 18GM00285 PubMed: Whitfield 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France France;Italy - - - - INFM Absence of outer dynein arms in spermatozoa DNAH17 DNAH17, DNAH8 4 1 Marie Legendre
00230657 18GM01974 PubMed: Whitfield 2019 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes France Algeria - - - - INFM Absence of outer dynein arms in spermatozoa DNAH17 DNAH17, DNAH8 5 2 Marie Legendre
00230658 18GM01932 PubMed: Whitfield 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes France Morocco - - - - INFM Absence of outer dynein arms in spermatozoa DNAH17 DNAH17 2 1 Marie Legendre
00230659 18GM01926 PubMed: Whitfield 2019 2-generation family, 1 affected M no France - - - - - INFM Absence of outer dynein arms in spermatozoa DNAH17 DNAH17, DNAH8 2 1 Marie Legendre
00269285 Fam1PatIII2 PubMed: Ascari 2020 4-generation family, affected brother/sister, unaffected heterozygous carrier parents; relatives M - Belgium - - - - - INFM 53y-best‐corrected visual acuity counting fingers at 50cm/hand movements at 1m; Goldmann visual fields oculus dexter et sinister only preserved inferior caecocentral island with object V4 of Goldmann with severely reduced sensitivity;fundus imaging oculus dexter et sinister severe reduction in vascular caliber, small white dots from the macula up to the midperiphery, relatively better preservation of fovea as well as peripheral retina, and spicular intraretinal pigmentation in nasal midperiphery; blue light autofluorescence imaging oculus dexter et sinister diffuse, mottled mixed hypo‐ and limited hyperautofluorescence more pronounced in macular area, better preserved autofluorescence in foveal area immediately surrounded by hypoautofluorescent ring; optical coherence tomography oculus dexter et sinister thinning of outer retinal layers representing RPE and PRs, which are relatively better preserved in foveal area; full‐field flash electroretinography oculus dexter et sinister severely reduced rod‐responses to one‐fourth of normal amplitude and delayed peak time, absent cone‐specific responses; sensorineural hearing loss for high tones; photophobia, acquired achromatopsia; diabetes mellitus type 2; morbid obesity; oligoasthenoteratospermia - CEP78, SPAG17 3 2 Elfride De Baere
00273465 FamA028 PubMed: Liu 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes China - - - - - INFM see paper; … SPEF2 SPEF2 1 1 Johan den Dunnen
00273466 FamA042 PubMed: Liu 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes China - - - - - INFM see paper; … SPEF2 SPEF2 1 1 Johan den Dunnen
00273467 FamF003 PubMed: Liu 2020 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes China - - - - - INFM see paper; … SPEF2 SPEF2 1 2 Johan den Dunnen
00274230 DGAP230 PubMed: Schilit 2020, Journal: Schilit 2020 - M - United States - - - - - INFM see paper; ..., 2y of infertility, severe oligozoospermia SYCP2 CDH4, SYCP2 4 1 Johan den Dunnen
00274231 M1686 PubMed: Schilit 2020, Journal: Schilit 2020 - M - Germany - - - - - INFM see paper; ..., 1y6m of infertility, cryptozoospermia SYCP2 SYCP2 1 1 Johan den Dunnen
00274232 M1581 PubMed: Schilit 2020, Journal: Schilit 2020 2-generation family, 1 affected, unaffected heterozygous carrier mother M - Germany - - - - - INFM see paper; ..., 2y6m of infertility, cryptozoospermia SYCP2 SYCP2 1 1 Johan den Dunnen
00274233 M1401 PubMed: Schilit 2020, Journal: Schilit 2020 - M - Germany - - - - - INFM see paper; ..., infertility of 17y, azoospermia SYCP2 SYCP2 1 1 Johan den Dunnen
00299447 Fam2 PubMed: Ayhan 2014 5-generation family, 3 affected brothers M yes Turkey - - - - - INFM see paper; ..., azoospermia (3/3), spermatogenesis arrest (maturation arrest spermatid stage), spermatogoniums and spermatocytes in phase I and phase II, very few spermatids, no spermiums lumen germ epithelia; tubulus membranes partly normal and partly thickened, , thickening excessive in some regions blocking tubules ZMYND15 SGSM2, SPAG7, ZMYND15 3 3 Johan den Dunnen
00299448 Fam1 PubMed: Ayhan 2014 4-generation family, 3 affected brothers M yes Turkey - - - - - INFM see paper; ..., azoospermia (3/4), oligozoospermia (1/4) TAF4B EVC, TAF4B 2 3 Johan den Dunnen
00303291 PatM2047 Beyens ESHG2020 C01.4 - M - Germany - - - - - INFM see paper; ..., azoospermia MSH4 MSH4 2 1 Johan den Dunnen
00303292 PatM1916 Beyens ESHG2020 C01.4 - M - Syria - - - - - INFM see paper; ..., azoospermia MSH4 MSH4 1 1 Johan den Dunnen
00303293 PatM721 Beyens ESHG2020 C01.4 - M - Turkey - - - - - INFM see paper; ..., azoospermia MSH5 MSH5 2 1 Johan den Dunnen
00303294 PatM1502 Beyens ESHG2020 C01.4 - M - Iraq - - - - - INFM see paper; ..., azoospermia MSH5 - - 1 Johan den Dunnen
00303295 PatM1529 Beyens ESHG2020 C01.4 - M - Syria - - - - - INFM see paper; ..., azoospermia MSH5 MSH5 1 1 Johan den Dunnen
00303540 FamALPatII6 PubMed: Ta_Shma 2020 4-generation family, 6 affected (6M), unaffected heterozygous carrier parents M yes Palestine - - - - - INFM see paper; ..., infertility; no respiratory problems MNS1 MNS1 1 6 Johan den Dunnen
00303541 FamALPatII7 PubMed: Ta_Shma 2020 - M yes Palestine - - - - - INFM see paper; ..., infertility; no respiratory problems MNS1 MNS1 1 1 Johan den Dunnen
00303542 FamALPatII10 PubMed: Ta_Shma 2020 - M yes Palestine - - - - - INFM see paper; ..., infertility; no respiratory problems MNS1 MNS1 1 1 Johan den Dunnen
00303543 FamALPatII11 PubMed: Ta_Shma 2020 - M yes Palestine - - - - - INFM see paper; ..., infertility; no respiratory problems MNS1 MNS1 1 1 Johan den Dunnen
00303544 FamALPatIII9 PubMed: Ta_Shma 2020 - M yes Palestine - - - - - INFM see paper; ..., situs inversus totalis; infertility; mild respiratory problems MNS1 MNS1 1 1 Johan den Dunnen
00303545 FamALPatIV3 PubMed: Ta_Shma 2020 - M yes Palestine - - - - - INFM see paper; ..., dextrocardia associated with congenitally corrected transposition of the great arteries, mitral atresia and pulmonic atresia; no respiratory problems MNS1 MNS1 1 1 Johan den Dunnen
00303546 FamBGPatII1 PubMed: Ta_Shma 2020 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Jordan - - - - - INFM see paper; ..., situs inversus totalis; suspected infertility; no respiratory problems MNS1 MNS1 1 1 Johan den Dunnen
00303547 FamBGPatII2 PubMed: Ta_Shma 2020 - M yes Jordan - - - - - INFM see paper; ..., situs inversus totalis; infertility; no respiratory problems MNS1 MNS1 1 1 Johan den Dunnen
00303548 FamMSPatII1 PubMed: Ta_Shma 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - INFM see paper; ..., situs inversus totalis; no respiratory problems MNS1 MNS1 1 1 Johan den Dunnen
00303549 FamOI-11PatII1 PubMed: Ta_Shma 2020 5-generation family, 5 affected (4F, M), unaffected heterozygous carrier parents F yes Israel - - - - - INFM see paper; ..., situs inversus totalis; bronchiectasis, recurrent pneumonia, recurrent sinusitis, recurrent otitis media and chronic cough DNAH5 DNAH5 1 1 Johan den Dunnen
00303550 FamOI-11PatII6 PubMed: Ta_Shma 2020 - F yes Israel - - - - - INFM see paper; ..., situs inversus totalis; bronchiectasis, recurrent pneumonia, recurrent sinusitis, recurrent otitis media and chronic cough DNAH5, MNS1 DNAH5, MNS1 2 1 Johan den Dunnen
00303551 FamOI-14PatII1 PubMed: Ta_Shma 2020 - F - Israel - - - - - INFM see paper; ..., situs solitus; bronchiectasis, recurrent pneumonia, recurrent sinusitis, recurrent otitis media and chronic cough DNAH5 DNAH5 1 1 Johan den Dunnen
00303552 FamOI-24PatII1 PubMed: Ta_Shma 2020 - M - Israel - - - - - INFM see paper; ..., situs inversus totalis; bronchiectasis, recurrent pneumonia, recurrent sinusitis, recurrent otitis media and chronic cough DNAH5 DNAH5 1 1 Johan den Dunnen
00303553 FamOI-24PatII2 PubMed: Ta_Shma 2020 - F - Israel - - - - - INFM see paper; ..., situs inversus totalis; bronchiectasis, recurrent pneumonia, recurrent sinusitis, recurrent otitis media and chronic cough DNAH5 DNAH5 1 1 Johan den Dunnen
00307034 FamA051 PubMed: Liu 2020, Journal: Liu 2020 2-generation family, 1 affected, unaffacted heterozygous carrier parents M - China - - - - - INFM see paper; ... DNAH8 DNAH8 2 1 Johan den Dunnen
00307035 FamX003 PubMed: Liu 2020, Journal: Liu 2020 2-generation family, 1 affected, unaffacted heterozygous carrier parents M - China - - - - - INFM see paper; ... DNAH8 DNAH8 2 1 Johan den Dunnen
00307036 FamF0300 PubMed: Liu 2020, Journal: Liu 2020 2-generation family, 1 affected, unaffacted heterozygous carrier parents M yes Morocco - - - - - INFM see paper; ... DNAH8 DNAH8 1 1 Johan den Dunnen
00307038 patient PubMed: Yang 2020 2-generation family, 1 affected, unaffacted heterozygous carrier parents M - China - - - - - INFM see paper; ..., asthenozoospermia, multiple morphological abnormalities sperm flagella DNAH8 DNAH8 1 1 Johan den Dunnen
00307039 PatM330 PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - M - Germany - - - - - INFM follicle-stimulating hormone 9 (IU/L), luteinizing hormone 5.3 (IU/L), testosterone 14.6 (nmol/L), testicular volume right/left 17/23; azoospermia; meiotic arrest (0/0% tubules with elongating spermatids, 0/0% round spermatids, 91/99% spermatocytes, 6/1% spermatogonia, 3/0% Sertoli cell-only, 0/0% tubular shadows), testicular biopsy and sperm extraction negative M1AP M1AP 1 1 Johan den Dunnen
00307040 PatM864 PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - M - Germany - - - - - INFM follicle-stimulating hormone 4.7 (IU/L), luteinizing hormone 1.5 (IU/L), testosterone 9.6 (nmol/L), testicular volume right/left 19/26; azoospermia; meiotic arrest (0/0% tubules with elongating spermatids, 0/0% round spermatids, 71/91% spermatocytes, 10/4% spermatogonia, 17/1% Sertoli cell-only, 2/4% tubular shadows), testicular biopsy and sperm extraction negative M1AP M1AP 1 1 Johan den Dunnen
00307041 PatM1792 PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - M - Germany - - - - - INFM follicle-stimulating hormone 7.8 (IU/L), luteinizing hormone 5.1 (IU/L), testosterone 10.1 (nmol/L), testicular volume right/left 15/15; azoospermia; meiotic arrest (0/0% tubules with elongating spermatids, 0/0% round spermatids, 96/97% spermatocytes, 0/2% spermatogonia, 3/1% Sertoli cell-only, 1/0% tubular shadows), testicular biopsy and sperm extraction negative M1AP M1AP 1 1 Johan den Dunnen
00307042 PatM1943 PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - M - Croatia (Hrvatska) - - - - - INFM follicle-stimulating hormone 5.5 (IU/L), luteinizing hormone 3.2 (IU/L), testosterone 43.6 (nmol/L), testicular volume right/left 28/20; cryptozoospermia or azoospermiaa; M1AP M1AP 2 1 Johan den Dunnen
00307043 PatM2062 PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - M - Poland - - - - - INFM follicle-stimulating hormone 3.5 (IU/L), luteinizing hormone 3.6 (IU/L), testosterone 18.6 (nmol/L), testicular volume right/left 26/23; cryptozoospermia or azoospermiaa; M1AP M1AP 1 1 Johan den Dunnen
00307044 PatY126 PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - M - Portugal - - - - - INFM follicle-stimulating hormone 6.7 (IU/L), luteinizing hormone 3.2 (IU/L), testosterone N/A (nmol/L); azoospermia; maturation arrest at round spermatid stage, (quantification N/A), testicular biopsy and sperm extraction negative M1AP M1AP 2 1 Johan den Dunnen
00307045 PatP86 PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - M - Portugal - - - - - INFM follicle-stimulating hormone N/A (IU/L); azoospermia; dispersed Sertoli cells, some tubules contained only spermatogonia, testicular biopsy and sperm extraction negative M1AP M1AP 2 1 Johan den Dunnen
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