Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.

The cessation of menstruation for six months or more in a female that is not pregnant, breastfeeding or menopausal.

Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.

Replacement of normal lung tissues by fibroblasts and collagen.

An enlargement of the thyroid gland.

Diminished clarity of vision.

Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.