Individuals with variants in TAF1 can present with developmental delays. This can be followed by later diagnoses of intellectual disability and/or autism spectrum disorder. Some individuals have issues with their heart, and some people develop seizures. There are also occasional neurologic issues, such as low tone (known as hypotonia) or occasionally too much tone, including cramped or stiffened muscles. Some individuals have large ears and occasionally have other minor facial anomalies, although this is not usually that recognizable. Some individuals with TAF1 variants are born small for their gestational age, and have slower growth in childhood (can be described as having ‘failure to thrive’) and a reduced final height (constitutional short stature). Some individuals are reported to have more flexible joints (hypermobility) and to have an increased chance of developing a curved back (scoliosis). Their growth and development, bones and joints should therefore be monitored by their pediatrician.
TAF1