All individuals with variants in gene DHH

15 entries on 1 page. Showing entries 1 - 15.
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00231424 Pat25 PubMed: Eggers 2016 - rF - - - - 0 - - DSD complete gonadal dysgenesis 1 1 Johan den Dunnen
00231431 Pat39 PubMed: Eggers 2016 - rF - - - - 0 - - DSD disorder of sex development 2 1 Johan den Dunnen
00231434 Pat42 PubMed: Eggers 2016 - rF - - - - 0 - - DSD disorders of androgen synthesis or action 1 1 Johan den Dunnen
00231469 Pat102 PubMed: Eggers 2016 - M - - - - 0 - - DSD disorder of sex development 1 1 Johan den Dunnen
00231476 Pat118 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development 1 1 Johan den Dunnen
00231493 Pat158 PubMed: Eggers 2016 - rF - - - - 0 - - DSD disorder of sex development 2 1 Johan den Dunnen
00231560 Pat251 PubMed: Eggers 2016 - - - - - - 0 - - DSD hypospadias 1 1 Johan den Dunnen
00247766 - - - F ? India - >14y 0 - - 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy presented with primary amenorrhoea; uterine agenesis with small uterus/two ovoid structures in superficial inguinal region 2 1 Luz Berenice Lopez-Hernandez
00247767 - PubMed: Umehara 1999 mother not available, unaffected sister F yes Japan - - 0 - - 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy polyneuropathy 1 1 Luz Berenice Lopez-Hernandez
00247768 - - - F ? India - >17y 0 - - 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy presented with primary amenorrhoea; no breast development, scanty axillary or pubic hair, hypoplastic uterus, streak ovaries 1 1 Luz Berenice Lopez-Hernandez
00247769 - - - F ? India - >26y 0 - - 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy presented with primary amenorrhoea; Tanner stage I breast development, no axillary hair, scanty pubic hair, streak gonads 1 1 Luz Berenice Lopez-Hernandez
00247770 - - - F ? Mexico - >16y 0 - - 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy gonads bilateral streaks 1 1 Luz Berenice Lopez-Hernandez
00247773 - - parents not available F no Mexico mestizo >19y 0 - - 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy testis with gonadoblastoma/streak, bilateral Fallopian tubes/epididymis;presented with either infantile or rudimentary uterus 1 1 Luz Berenice Lopez-Hernandez
00247774 - - parents not available F no Mexico mestizo >19y 0 - - 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy testis/streak, right epididymis/left Fallopian tube; presented with either infantile or rudimentary uterus 1 1 Luz Berenice Lopez-Hernandez
00290728 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 138 Mohammed Faruq
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