by Remember The Girls | Oct 31, 2022
Back to Previous Cobalamin X (Methylmalonic Acidemia and Homocysteinemia, cblX Type) Methylmalonic acidemia and homocysteinemia, cblX type, is an X-linked recessive metabolic disorder characterized by severely delayed psychomotor development apparent in infancy. It...
by Remember The Girls | Oct 31, 2022
Back to Previous Coffin-Lowry Syndrome Coffin-Lowry syndrome (CLS) is a rare genetic disorder characterized by intellectual disability; abnormalities of the head and facial (craniofacial) area; large, soft hands with short, thin (tapered) fingers; short stature;...
by Remember The Girls | Oct 31, 2022
Back to Previous Congenital Stationary Night Blindness (X-Linked) X-linked congenital stationary night blindness (CSNB) is characterized by non-progressive retinal findings of reduced visual acuity ranging from 20/30 to 20/200; defective dark adaptation; refractive...
by Remember The Girls | Oct 31, 2022
Back to Previous Congenital Retinoschisis (X-Linked) X-linked congenital retinoschisis (XLRS) is characterized by symmetric bilateral macular involvement with onset in the first decade of life, in some cases as early as age three months. Fundus examination shows areas...
by Remember The Girls | Oct 31, 2022
Back to Previous Cornelia de Lange Syndrome Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that is generally apparent at birth (congenital). Associated symptoms and findings typically include delays in physical development before and after birth...
