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rett syndrome
- Rett syndrome is a brain disorder that occurs almost exclusively in girls. The most common form of the condition is known as classic Rett syndrome. After birth, girls with classic Rett syndrome have ...
- ... 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 ...
- 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, ...
- ... 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 ...
- ... was previously described as a congenital variant of Rett syndrome, which is a similar disorder of early development. ... syndrome is usually considered to be distinct from Rett syndrome.At least 11 mutations within the FOXG1 gene ...
- ... X syndrome, followed by MECP2 duplication syndrome, then Rett syndrome (which exclusively affects females), and finally MECP2-related ... related severe neonatal encephalopathy. Instead, they typically develop Rett syndrome, which has signs and symptoms that include intellectual ...
- ... often compared to features of a disorder called Rett syndrome. These features include repeated hand wringing or clasping ( ...
- ... linked mental retardation, syndromic 13 Genetic Testing Registry: Rett syndrome X-linked intellectual disability-psychosis-macroorchidism syndrome National ...
