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...
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...
