12 members
X Chromosome Duplication is the duplication of chromosome X between Xq27.2 and Xq28.
1 members
X-Linked Agammaglobulinemia is a rare X-linked genetic disorder that affects the body's ability to fight infection.
1 members
X-linked Alpha Thalassemia Mental Retardation Syndrome is a rare inherited disorder affecting multiple body functions including intellectual development and muscle development.
2 members
X-linked Congenital Stationary Night Blindness is a rare genetic non-progressive retinal disorder.
1 members
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...
5 members
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...
8 members
X-Linked Ichthyosis is a rare skin disorder caused by the hereditary deficiency of the steroid sulfatase (STS) enzyme.
16 members
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 ...
members
X-linked Ocular Albinism is a rare form of albinism that presents primarily in the eyes.
2 members
Xeroderma Pigmentosum is an rare genetic disorder causing the inability to repair damage caused by ultraviolet light.
1 members
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...
4 members
XX Gonadal Dysgenesis is a disorder of the female reproductive system in which functional ovaries are not present to induce puberty.
5 members
XX Male Syndrome is a rare sex chromosomal disorder.