X-kromoszómához kötött domináns
Caused by changes in one copy of the MSL3 gene, part of a complex that regulates chromatin and gene activity. Most reported changes have arisen new (de novo) in the affected child, and both males and females are affected.
Tünetek és jelek
Global developmental delay and intellectual disability, ranging from mild to severe, are common, with muscle tone problems and feeding difficulties in infancy. Autism spectrum disorder and dysmorphic facial features are also common. Hypoplasia of the cerebellar vermis is a consistent brain MRI finding. Hearing impairment and gastrointestinal problems can also occur.
Mit változtat a diagnózis
Multidisciplinary care and surveillance, with developmental, feeding and physical therapy support. Most cases arise de novo, so recurrence risk is usually low, but genetic counselling and parental testing help confirm this.
Vizsgált gének
Más néven
Basilicata-Akhtar syndrome, X-linked dominant; MRXSBA
