Combined oxidative phosphorylation deficiency 5

A mitochondrial disease resulting in severe metabolic acidosis, edema, hypertrophic cardiomyopathy, tubulopathy, and hypotonia.

Ovarian dysgenesis 8

An autosomal dominant form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads.

Spermatogenic failure 32

An autosomal dominant infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia.

46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs

A disease characterized by the association of female-to-male sex reversal with dysgenesis of kidneys, adrenals, and lungs.

Ovarian dysgenesis 11

An autosomal recessive form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads.

Ovarian dysgenesis 1

An autosomal recessive disease characterized by primary amenorrhea, variable development of secondary sex characteristics, poorly developed streak ovaries, and high serum levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH).

Nephrotic syndrome 11

A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. NPHS11 is an autosomal recessive, steroid-resistant and progressive form with onset in the first decade of life.

46,XY sex reversal 3

A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype.

Ovarian dysgenesis 9

An autosomal recessive form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads.

Spermatogenic failure 2

An autosomal recessive disorder characterized by male infertility due to non-obstructive azoospermia. Testicular histopathology reveals no round spermatids or spermatozoa in the seminiferous tubules of SPGF2 patients, consistent with meiotic arrest.

Ovarian dysgenesis 10

An autosomal recessive form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads.

Ovarian dysgenesis 3

A disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads.

Ovarian dysgenesis 2

A disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads.

Premature ovarian failure 16

An autosomal dominant form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol.

Premature ovarian failure 6

An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol.