All individuals with variants in gene TDRD7

14 entries on 1 page. Showing entries 1 - 14.
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VIP     
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00260852 FamF3R PubMed: Lachke 2011 2-generation family, 4 affected 2F, 2M), unaffected heterozygous carrier parents/relatives F;M yes - - - - - - CTRCT see paper; ..., 1 4 Johan den Dunnen
00260853 DGAP186 PubMed: Lachke 2011 - rM - United States - - - - - ? see paper; ..., at birth severe hypospadias, absence of testes in bifid scrotal sac; later testes descended, hypospadias treated with testosterone injection combined with surgery; 2y-left leukocoria, bilateral, progressive cataracts 1 1 Johan den Dunnen
00260854 Fam60152 PubMed: Chen 2017 2-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - CTRCT - 1 5 Johan den Dunnen
00260855 Fam1PatIV3 PubMed: Tan 2019 5-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes China Han - - - - ? see paper; ..., congenital cataract, azoospermia 1 2 Johan den Dunnen
00260856 Fam2 PubMed: Tan 2019 5-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes China Han - - - - ? see paper; ..., congenital cataract, azoospermia 1 2 Johan den Dunnen
00414393 WHP60 PubMed: Sun 2018 - F - China - - - - - ? Cataract 36;Cataract 42 1 1 LOVD
00434085 Pat62 PubMed: Li 2016 - - - China - - - - - CTRCT bilateral posterior polar cataract 1 1 Johan den Dunnen
00434129 Fam1PatII1 PubMed: Li 2019 2-generation family, affected mother/son M - China - - - - - CTRCT see paper; ..., nuclear cataract, white opacities 2 2 Johan den Dunnen
00434130 Fam2PatII1 PubMed: Li 2019 2-generation family, affected mother/2 daughters F - China - - - - - CTRCT see paper; ..., nuclear/lamellar cataract, blue punctate opacities 2 3 Johan den Dunnen
00434131 Fam3PatIV1 PubMed: Li 2019 4-generation family, 5 affected (5F) F - China - - - - - CTRCT see paper; ..., total cataract 3 5 Johan den Dunnen
00434132 Fam4PatIV1 PubMed: Li 2019 4-generation family, 4 affected (2F, 2M) F - China - - - - - CTRCT see paper; ..., total cataract 2 4 Johan den Dunnen
00434185 Fam30 PubMed: Fernandez-Alcalde 2021 - - - Spain - - - - - CTRCT posterior polar cataract; no microphthalmia; no microcornea; no iris malformations 1 1 Johan den Dunnen
00434250 Fam12720 PubMed: Jackson 2020 - - - Bangladesh Asia - - - - ? - 1 1 Johan den Dunnen
00446434 Fam17Pat49 PubMed: Liu 2023 2-generation family, affected brother/sister, unaffected parents M - China - - - - - CTRCT bilateral congenital cataract 1 2 Johan den Dunnen
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