by Remember The Girls | Jun 1, 2022
Back to Previous IPEX Syndrome Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome, more commonly known as IPEX syndrome, is a rare genetic disorder that can present early in life with diabetes, diarrhea and eczema. The condition is...
by Remember The Girls | Jun 1, 2022
Back to Previous XMEN or Immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (X-Linked) X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (typically known by the acronym XMEN) is a disorder...
by Remember The Girls | Jun 1, 2022
Back to Previous Juvenile Retinoschisis (X-Linked) X-linked juvenile retinoschisis is a condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. This disorder affects the retina, which is a specialized light-sensitive...
by Remember The Girls | May 31, 2022
Back to Previous Kabuki Syndrome (KDM6A mutation) Kabuki syndrome is a rare, multisystem disorder characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, skeletal abnormalities, and...
by Remember The Girls | May 31, 2022
Back to Previous Keipert Syndrome (Nasodigitoacoustic Syndrome) A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent...
