Rare Disease Library

3q26q28 deletion syndrome

Del(3)(q26q28) · Monosomy 3q26q28 syndrome

3q27.3 microdeletion syndrome

Del(3)(q27.3)

3q29 microdeletion syndrome

3q subtelomere deletion syndrome · 3qter deletion

3q29 microduplication syndrome

Trisomy 3q29

45,X/46,XY mixed gonadal dysgenesis

45,X/46,XY MGD · 45,X0/46,XY MGD

46,XX difference of sex development

46,XX DSD · 46,XX disorder of sex development

46,XX difference of sex development induced by androgens excess

46,XX DSD induced by androgens excess · 46,XX disorder of sex development induced by androgens excess

46,XX difference of sex development induced by endogenous maternal-derived androgen

46,XX DSD induced by endogenous maternal-derived androgen · 46,XX disorder of sex development induced by endogenous maternal-derived androgen

46,XX difference of sex development induced by exogenous maternal-derived androgen

46,XX DSD induced by exogenous maternal-derived androgen · 46,XX disorder of sex development induced by exogenous maternal-derived androgen

46,XX difference of sex development induced by fetal androgens excess

46,XX DSD induced by fetal androgens excess · 46,XX disorder of sex development induced by fetal androgens excess

46,XX difference of sex development induced by fetoplacental androgens excess

46,XX DSD induced by fetoplacental androgens excess · 46,XX disorder of sex development induced by fetoplacental androgens excess

46,XX difference of sex development induced by maternal-derived androgen

46,XX disorder of sex development induced by maternal-derived androgen · 46,XX DSD induced by maternal-derived androgen

46,XX difference of sex development-anorectal anomalies syndrome

46,XX disorder of sex development-anorectal anomalies syndrome

46,XX difference of sex development-skeletal anomalies syndrome

46,XX disorder of sex development-skeletal anomalies syndrome

46,XX disorder of gonadal development

46,XX gonadal dysgenesis

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

46,XX ovarian dysgenesis-short stature syndrome

46,XX ovotesticular difference of sex development

46,XX ovotesticular disorder of sex development · 46,XX ovotesticular DSD

46,XX testicular difference of sex development

46,XX testicular DSD · De la Chapelle syndrome

46,XY complete gonadal dysgenesis

46,XY CGD · 46,XY pure gonadal dysgenesis

46,XY difference of sex development

46,XY disorder of sex development · 46,XY DSD

46,XY difference of sex development due to 5-alpha-reductase 2 deficiency

46,XY DSD due to 5-alpha-reductase 2 deficiency · Pseudovaginal perineoscrotal hypospadias

46,XY difference of sex development due to a cholesterol synthesis defect

46,XY DSD due to a cholesterol synthesis defect · 46,XY disorder of sex development due to a cholesterol synthesis defect

46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue

46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue

46,XY difference of sex development due to a testosterone synthesis defect

46,XY DSD due to a testosterone synthesis defect · 46,XY disorder of sex development due to a testosterone synthesis defect

46,XY difference of sex development due to adrenal and testicular steroidogenesis defect

46,XY DSD due to adrenal and testicular steroidogenesis defect · 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect

46,XY difference of sex development due to impaired androgen production

46,XY DSD due to impaired androgen production · 46,XY disorder of sex development due to impaired androgen production

46,XY difference of sex development due to isolated 17,20-lyase deficiency

46,XY disorder of sex development due to isolated 17,20-lyase deficiency

46,XY difference of sex development due to testicular 17,20-desmolase deficiency

46,XY disorder of sex development due to testicular 17,20-desmolase deficiency

46,XY difference of sex development due to testicular steroidogenesis defect

46,XY disorder of sex development due to testicular steroidogenesis defect · 46,XY DSD due to testicular steroidogenesis defect

46,XY difference of sex development induced by maternal exposure to endocrine disruptors

46,XY DSD induced by maternal-exposure to endocrine disruptors · 46,XY disorder of sex development induced by maternal exposure to endocrine disruptors

46,XY difference of sex development of endocrine origin

46,XY DSD of endocrine origin · 46,XY disorder of sex development of endocrine origin

46,XY difference of sex development of gynecological interest

46,XY DSD of gynecological interest · 46,XY disorder of sex development of gynecological interest

46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency

46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency · XY sex reversal-adrenal failure

46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect

46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect

46,XY disorder of gonadal development

46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome

46,XY ovotesticular difference of sex development

46,XY ovotesticular DSD · 46,XY ovotesticular disorder of sex development

46,XY partial gonadal dysgenesis

46,XY PGD · 46,XY partial testicular dysgenesis

47,XYY syndrome

Jacobs syndrome · Double Y syndrome

48,XXXY syndrome

48,XXYY syndrome

48,XYYY syndrome

49,XXXXY syndrome

49,XXXYY syndrome

49,XYYYY syndrome

4H leukodystrophy

POLR-related leukodystrophy

4p16.3 microduplication syndrome

Distal duplication 4p · Distal trisomy 4p