by Remember The Girls | May 30, 2022
Back to Previous MECP2 Duplication Syndrome MECP2 duplication syndrome is a rare genetic neurodevelopmental disorder characterized by a wide variety of symptoms including low muscle tone (hypotonia), potentially severe intellectual disability, developmental delays,...
by Remember The Girls | May 30, 2022
Back to Previous MECP2 Disorders The spectrum of MECP2-related phenotypes in females ranges from classic Rett syndrome to variant Rett syndrome with a broader clinical phenotype (either milder or more severe than classic Rett syndrome) to mild learning disabilities;...
by Remember The Girls | May 30, 2022
Back to Previous McLeod Neuroacanthocytosis Syndrome McLeod neuroacanthocytosis syndrome (designated as MLS throughout this review) is a multisystem disorder with central nervous system (CNS), neuromuscular, cardiovascular, and hematologic manifestations in males: CNS...
by Remember The Girls | May 12, 2022
Back to Previous Menkes Disease Menkes disease (MD) is an inherited X-linked recessive disorder that affects many systems in the body. Affected infants are often born prematurely and may have non-specific symptoms such as hypothermia, hypoglycemia, and prolonged...
by Remember The Girls | May 12, 2022
Back to Previous Myotubular Myopathy (X-Linked) X-linked myotubular myopathy (XLMTM) is a rare genetic neuromuscular disorder that is characterized by muscle weakness that is most typically severe but can range from mild to profound. Symptoms are often present at...
