Ambiguous Genitalia

Androgen Insensitivity Syndrome

Bardet-Biedl Syndrome

Blepharophimosis-Ptosis-Epicanthus Inversus syndrome (BPES)

Ciliopathies

Combined Pituitary Hormone Deficiency

Cystic Fibrosis

Disorders of Sex Development

Female Infertility

Fetal Akinesia Deformation Sequence

Fetal and Neonatal Loss

Fragile X Syndrome

Fraser Syndrome

Galactosemia

Hypogonadism

Hypospadias

Joubert and Meckel-Gruber Syndromes

Lethal Multiple Pterygium Syndrome

Male Infertility

Pituitary Adenoma

Premature Ovarian Failure (POF)

Premature Ovarian Failure (POF1)