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rett syndrome
- Rett Syndrome: Overview (Eunice Kennedy Shriver National Institute of Child Health and Human Development)Rett syndrome is a neurological and developmental genetic disorder that occurs mostly in females. Infants with Rett syndrome seem to grow and develop normally at first, ...
- ClinicalTrials.gov: Rett Syndrome (National Institutes of Health)Rett Syndrome/Clinical Trials ... Rett Syndrome
- ... was previously classified as an atypical form of Rett syndrome. However, CDKL5 deficiency disorder is now considered a separate condition. Rett syndrome, which affects development in girls and women, results ...
- Rett syndrome is a very rare disorder that is mostly diagnosed in girls but found in boys, too. ... Rare Diseases Rett syndrome: an overview of this rare genetic disorder What is Rett syndrome? Rett syndrome is a rare genetic disorder ...
- STXBP1 encephalopathy is a condition characterized by abnormal brain function (encephalopathy) and intellectual disability. Most affected individuals also have ...
- ... condition in males cause a similar disorder called Rett syndrome (described below) in females. Most of these mutations ... MECP2 gene have been identified in females with Rett syndrome, a brain disorder that causes problems with communication, ...
- Trofinetide is used to treat Rett syndrome (a genetic condition that causes severe developmental and nervous system problems) in adult and children 2 years of age or older. ...
- ... son to a rare developmental disease known as Rett syndrome. Now he wants other families to know they’ ... was born with a rare genetic disorder called Rett syndrome. They have since become advocates for others facing ...
- ... was previously described as a congenital variant of Rett syndrome, which is a similar disorder of brain development. ... disability, and problems with communication and language. However, Rett syndrome is diagnosed almost exclusively in females, while FOXG1 ...
- ... was previously classified as an atypical form of Rett syndrome. These conditions have common features, including seizures, intellectual ... its genetic cause are distinct from those of Rett syndrome, and CDKL5 deficiency disorder is now considered a ...