by Remember The Girls | May 1, 2022
Back to Previous Otopalatodigital Spectrum Disorders The X-linked otopalatodigital (X-OPD) spectrum disorders, characterized primarily by skeletal dysplasia, include the following: Otopalatodigital syndrome type 1 (OPD1) Otopalatodigital syndrome type 2 (OPD2)...
by Remember The Girls | Apr 30, 2022
Back to Previous Pelizaeus-Merzbacher Disease Pelizaeus-Merzbacher disease (PMD) is a rare X-linked genetic disorder affecting the central nervous system that is associated with abnormalities of the white matter of the brain and spinal cord. It is one of the...
by Remember The Girls | Apr 30, 2022
Back to Previous Protoporphyria (X-Linked) X-linked protoporphyria is an extremely rare genetic disorder characterized by an abnormal sensitivity to the sun (photosensitivity) that can cause severe pain, burning, and itching of sun-exposed skin. Symptoms may occur...
by Remember The Girls | Mar 1, 2022
Back to Previous Retinitis Pigmentosa Retinitis pigmentosa (RP) comprises a large group of inherited vision disorders that cause progressive degeneration of the retina (the so-called inherited retinal diseases, or IRDs), the light sensitive membrane that coats the...
by Remember The Girls | Feb 2, 2022
Back to Previous Severe Combined Immunodeficiency (X-Linked) X-linked severe combined immunodeficiency (SCID) is an inherited disorder of the immune system that occurs almost exclusively in males. Children with X-linked SCID are prone to recurrent and persistent...
