Disease #02627

Official abbreviation -
Name 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy
OMIM ID 607080
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 7
Phenotype entries for this disease 7
Associated with 1 gene DHH
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Individuals

7 entries on 1 page. Showing entries 1 - 7.
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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 DHH DHH 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 DHH DHH 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 DHH DHH 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 DHH DHH 1 1 Luz Berenice Lopez-Hernandez
00247770 - - - F ? Mexico - >16y 0 - - 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy gonads bilateral streaks DHH DHH 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 DHH DHH 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 DHH DHH 1 1 Luz Berenice Lopez-Hernandez
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