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)