by Remember The Girls | Jan 2, 2022
Back to Previous Wiskott-Aldrich Syndrome Wiskott-Aldrich syndrome is characterized by abnormal immune system function (immune deficiency), eczema (an inflammatory skin disorder characterized by abnormal patches of red, irritated skin), and a reduced ability to form...
by Remember The Girls | Jan 1, 2022
Back to Previous Terminal Osseous Dysplasia Terminal osseous dysplasia with pigmentary defects (TODPD) is an X-linked dominant syndrome with distal limb anomalies and pigmentary skin defects. We have previously described this syndrome in several females from a large,...
by Remember The Girls | Jan 1, 2022
Back to Previous Xq28 Duplication Syndrome The int22h1/int22h2-mediated Xq28 duplication syndrome is an X-linked intellectual disability syndrome characterized by variable degrees of cognitive impairment (typically more severe in males), a wide spectrum of...
by Remember The Girls | Jan 1, 2022
Back to Previous X-linked Adrenal Hypoplasia Congenita X-linked adrenal hypoplasia congenita is a disorder that is noticeable from birth (congenital) and affects the development of the adrenal glands, which are hormone-producing (endocrine) organs (glands) located on...
