by Remember The Girls | May 12, 2022
Back to Previous Myotubular Myopathy (X-Linked) X-linked myotubular myopathy (XLMTM) is a rare genetic neuromuscular disorder that is characterized by muscle weakness that is most typically severe but can range from mild to profound. Symptoms are often present at...
by Remember The Girls | May 6, 2022
Back to Previous NEMO Deficiency Syndrome The NEMO deficiency syndrome is a complex disease caused by genetic mutations in the X-linked NEMO gene (also known as IKK gamma or IKKG). It can involve many different parts of the body and often manifests in different ways...
by Remember The Girls | May 6, 2022
Back to Previous Nephrogenic Diabetes Insipidus (X-Linked) Nephrogenic diabetes insipidus is a rare hereditary disorder, most commonly transmitted in an X chromosome-linked recessive manner and characterized by the lack of renal response to the action of antidiuretic...
by Remember The Girls | May 5, 2022
Back to Previous Norrie Disease Norrie disease is characterized by vision loss at birth or a few weeks after an eye lesion such as retinal detachment occurs which threatens vision and can lead to severe visual impairment or loss of vision. Norrie disease mostly occurs...
by Remember The Girls | May 2, 2022
Back to Previous Occipital Horn Syndrome Occipital horn syndrome (OHS) is a genetic condition that affects the connective tissue, skeleton, and nervous system. They may include wedge-shaped calcium deposits at the base of the skull (occipital horns), loose skin and...
