Disease #05895 (INF (infertility))

Official abbreviation INF
Name infertility
OMIM ID -
Inheritance -
Individuals reported having this disease 20
Phenotype entries for this disease 19
Associated with 2 genes C14orf39, C9orf84
Associated tissues -
Disease features -
Remarks -
Date created 2021-02-04 08:41:37 +01:00 (CET)
Date last edited N/A


Individuals

20 entries on 1 page. Showing entries 1 - 20.
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00329111 P3907 PubMed: Fan 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes China - - - - - INF see paper; ..., meiotic arrest C14orf39 C14orf39 1 1 Johan den Dunnen
00329112 P6032 PubMed: Fan 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes China - - - - - INF see paper; ..., meiotic arrest C14orf39 C14orf39 1 1 Johan den Dunnen
00329113 PK-INF-543 5-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives - F;M yes Pakistan - - - - - INF see paper; ... C14orf39 C14orf39, DHRS4L2 2 3 Johan den Dunnen
00376836 Pat1 - - M yes Israel Bedouin - - - - INF - ACRC ACRC 1 1 Ruti Parvari
00376843 Pat2 - - M yes Israel Arab - - - - INF - ACRC ACRC 1 1 Ruti Parvari
00383173 Fam2 PubMed: Yao 2021 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M no China - - - - - INF see paper; ... C9orf84 C9orf84 1 2 Johan den Dunnen
00403115 FamA PubMed: Tenenbaum-Rakover 2015 5-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F;M yes Israel Arab - - - - INF see paper; ... MCM8 MCM8 1 2 Johan den Dunnen
00414791 - - - - - - - - - - - INF - - YTHDC2 1 1 Tahir Khan
00457984 PK-INF-586PatIV3 PubMed: Wu 2022 4-generation family, 1 affected, unaffected heterozygous carrier parents M yes Pakistan - - - - - INF see paper; ..., non-obstructive azoospermia, no sperm left/ight testes - SPATA22 1 1 Johan den Dunnen
00457985 PK-INF-602PatIV4 PubMed: Wu 2022 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents F yes Pakistan - - - - - INF see paper; ..., unexplained primary infertility, regular menstrual cycle - MEIOB 1 3 Johan den Dunnen
00457986 PK-INF-602PatIV5/6 PubMed: Wu 2022 2 brothers M yes Pakistan - - - - - INF see paper; ..., non-obstructive azoospermia MEIOB MEIOB 1 2 Johan den Dunnen
00464633 2261_Case3 - Severe oligospermia M yes Egypt - - - - - INF Male infertility (HP:0003251) CCDC39 CCDC39 1 1 Rima Slim
00464634 2334_Case4 - - M yes Egypt - - - - - INF Male infertility (HP:0003251) STAG3 STAG3 1 1 Rima Slim
00464635 2335_Case4 - - M yes Egypt - - - - - INF Male infertility (HP:0003251) STAG3 STAG3 1 1 Rima Slim
00464637 2088_Case5 - - M yes Egypt - - - - - INF Male infertility (HP:0003251) KIAA0319 KIAA0319 1 1 Rima Slim
00464696 2266_Case6 - His brother (ID:00464697) is also affected with NOA and harbors the same homozygous variant. M yes Egypt - - - - - INF Infertility (HP:0000789), Non-obstructive azoospermia (HP:0011961) FBXO43 FBXO43 1 1 Rima Slim
00464697 2267_Case6 - His brother (ID:00464696) is also affected with NOA and harbors the same homozygous variant. M yes Egypt - - - - - INF Male infertility (HP:0003251), Non-obstructive azoospermia (HP:0011961) FBXO43 FBXO43 1 1 Rima Slim
00464700 2103_Case8 - - M yes Egypt - - - - - INF Infertility (HP:0000789) PLCZ1 PLCZ1 1 1 Rima Slim
00464702 2351_Case1 (AGBL5) - Retinitis pigmentosa since mid-childhood, and cataract. His spermogram showes oligo and necrozoospermia. M yes Egypt - - - - - INF, RP - AGBL5 AGBL5 1 1 Rima Slim
00464703 2351_Case7 (BBS7) - Retinitis pigmentosa since mid-childhood, and cataract. His spermogram showes oligo and necrozoospermia. M yes Egypt - - - - - INF, RP - BBS7 BBS7 1 1 Rima Slim
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