Phenotypes for disease #02627 (46,XY gonadal dysgenesis, partial, with minifascicular neuropathy, OMIM:607080)

7 entries on 1 page. Showing entries 1 - 7.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000186935 presented with primary amenorrhoea; uterine agenesis with small uterus/two ovoid structures in superficial inguinal region - - Isolated (sporadic) - - - - - Luz Berenice Lopez-Hernandez 00247766
0000186936 polyneuropathy - - Isolated (sporadic) - - - - - Luz Berenice Lopez-Hernandez 00247767
0000186937 presented with primary amenorrhoea; no breast development, scanty axillary or pubic hair, hypoplastic uterus, streak ovaries - - Isolated (sporadic) - - - - - Luz Berenice Lopez-Hernandez 00247768
0000186938 presented with primary amenorrhoea; Tanner stage I breast development, no axillary hair, scanty pubic hair, streak gonads - - Isolated (sporadic) - - - - - Luz Berenice Lopez-Hernandez 00247769
0000186939 gonads bilateral streaks - - Isolated (sporadic) - - - - - Luz Berenice Lopez-Hernandez 00247770
0000186942 testis with gonadoblastoma/streak, bilateral Fallopian tubes/epididymis;presented with either infantile or rudimentary uterus - - Isolated (sporadic) - - - - - Luz Berenice Lopez-Hernandez 00247773
0000186943 testis/streak, right epididymis/left Fallopian tube; presented with either infantile or rudimentary uterus - - Isolated (sporadic) - - - - - Luz Berenice Lopez-Hernandez 00247774
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