Cookies help us deliver our services. By using our services, you agree to our use of cookies. Learn more


All Communities

  • X Chromosome Duplication

    12 members

    X Chromosome Duplication is the duplication of chromosome X between Xq27.2 and Xq28.

  • X-Linked Agammaglobulinemia

    1 members

    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

    1 members

    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

    2 members

    X-linked Congenital Stationary Night Blindness is a rare genetic non-progressive retinal disorder.

  • X-linked Dominant Chondrodysplasia Punctata

    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...

  • X-linked Hypophosphatemia

    4 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...

  • X-Linked Ichthyosis

    8 members

    X-Linked Ichthyosis is a rare skin disorder caused by the hereditary deficiency of the steroid sulfatase (STS) enzyme.

  • X-Linked Lymphoproliferative Disease

    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 ...

  • X-linked Ocular Albinism


    X-linked Ocular Albinism is a rare form of albinism that presents primarily in the eyes.

  • Xeroderma Pigmentosum

    2 members

    Xeroderma Pigmentosum is an rare genetic disorder causing the inability to repair damage caused by ultraviolet light.

  • XP22.31 deletion syndrome

    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...

  • XX Gonadal Dysgenesis

    4 members

    XX Gonadal Dysgenesis is a disorder of the female reproductive system in which functional ovaries are not present to induce puberty.

  • XX Male Syndrome

    5 members

    XX Male Syndrome is a rare sex chromosomal disorder.