Rare Disease Library

Testicular regression syndrome

ETRS · Embryonic testicular regression syndrome

45,X/46,XY mixed gonadal dysgenesis

45,X/46,XY MGD · 45,X0/46,XY MGD

46,XX gonadal dysgenesis

46,XX complete gonadal dysgenesis · 46,XX ovarian dysgenesis

46,XY complete gonadal dysgenesis

46,XY CGD · 46,XY pure gonadal dysgenesis

46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome

46,XY partial gonadal dysgenesis

46,XY PGD · 46,XY partial testicular dysgenesis

47,XYY syndrome

Jacobs syndrome · Double Y syndrome

Caudal regression syndrome

Caudal dysgenesis syndrome · Caudal dysplasia

Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome

Perrault syndrome

XX gonadal dysgenesis-hearing loss syndrome · XX gonadal dysgenesis-deafness syndrome

XY type gonadal dysgenesis-associated anomalies syndrome