by Remember The Girls | Oct 31, 2022
Back to Previous Chondrodysplasia Punctata 2 (X-Linked) X-linked chondrodysplasia punctata 2 is a disorder characterized by bone, skin, and eye abnormalities. It occurs almost exclusively in females. Although the signs and symptoms of this condition vary widely,...
by Remember The Girls | Oct 31, 2022
Back to Previous Choroideremia Choroideremia is a genetic disorder of sight that usually affects males. Female carriers may have mild symptoms without loss of vision. Major symptoms are difficulty seeing in the dark leading to progressive loss of peripheral vision,...
by Remember The Girls | Oct 31, 2022
Back to Previous Christianson syndrome Christianson syndrome is an X-linked syndrome associated with intellectual disability, microcephaly, seizures, ataxia, and absent speech. Many individuals with this condition have a happy demeanor with frequent smiling and...
by Remember The Girls | Oct 31, 2022
Back to Previous Chronic Granulomatous Disease Chronic granulomatous disease (CGD) is a rare inherited primary immune deficiency disorder that affects certain white blood cells (neutrophils, monocytes, macrophages, eosinophils). The disorder is characterized by an...
by Remember The Girls | Oct 31, 2022
Back to Previous Claes-Jensen Syndrome KDM5C-associated XLID is also called Claes-Jensen syndrome. The clinical manifestations included severe ID, epileptic seizure, slowly progressive spastic paraplegia, short stature, microcephaly, maxillary hypoplasia, and small...
