by Remember The Girls | May 31, 2022
Back to Previous Lesch-Nyhan Syndrome Lesch-Nyhan syndrome is a rare inborn error of purine metabolism characterized by the absence or deficiency of the activity of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Purines are nitrogen-containing...
by Remember The Girls | May 31, 2022
Back to Previous Lowe Syndrome Lowe syndrome is characterized by vision problems including clouding of the lenses of the eyes (cataracts) that are present at birth, kidney problems that usually develop in the first year of life, and brain abnormalities that are...
by Remember The Girls | May 31, 2022
Back to Previous Lujan-Fryns Syndrome The Lujan-Fryns syndrome or X-linked mental retardation with marfanoid habitus syndrome is a syndromal X-linked form of mental retardation, affecting predominantly males. The prevalence is not known for the general population. The...
by Remember The Girls | May 31, 2022
Back to Previous Lymphoproliferative Disease (X-Linked) X-linked lymphoproliferative disease (XLP) is a disorder of the immune system and blood-forming cells that is found almost exclusively in males. More than half of individuals with this disorder experience an...
by Remember The Girls | May 31, 2022
Back to Previous L1 Syndrome L1 syndrome is an inherited, X-linked disorder occurring in males that primarily affects the nervous system. The disease is mainly characterized by hydrocephalus (increased fluid in the center of the brain), spasticity of the lower limbs...
