X Chromosome Duplication is the duplication of chromosome X between Xq27.2 and Xq28.
X-Linked Agammaglobulinemia is a rare X-linked genetic disorder that affects the body's ability to fight infection.
X-linked Alpha Thalassemia Mental Retardation Syndrome is a rare inherited disorder affecting multiple body functions including intellectual development and muscle development.
X-linked Congenital Stationary Night Blindness is a rare genetic non-progressive retinal disorder.
X-linked Dominant Chondrodysplasia Punctata is a rare genetic disorder affecting skeletal development and characterized by abnormal accumulations of calcium salts within the growing ends of long b...
X-linked hypophosphatemia (XLH) is an inherited disorder caused by mutations in the PHEX gene on the X chromosome. This gene is responsible for encoding a protein involved in regulating blood ph...
X-Linked Ichthyosis is a rare skin disorder caused by the hereditary deficiency of the steroid sulfatase (STS) enzyme.
X-linked lymphoproliferative (XLP) syndrome is a rare inherited disorder of the immune system which causes a dysregulation in the immune system and an overproduction of immune cells in response ...
X-linked Ocular Albinism is a rare form of albinism that presents primarily in the eyes.
Xeroderma Pigmentosum is an rare genetic disorder causing the inability to repair damage caused by ultraviolet light.
XP22.31 deletion which carries an unknown prognosis, is characterized by skin conditions (itchyosis) from lack of Steroid Sulfatase, undescended testicles, seizures and learning/developmental is...
XX Gonadal Dysgenesis is a disorder of the female reproductive system in which functional ovaries are not present to induce puberty.
XX Male Syndrome is a rare sex chromosomal disorder.