Basilicata–Akhtar syndrome is a X-linked (dominant) disorder and is caused by de novo variants in the MSL3 gene. MSL3 encodes a subunit of the chromatin-associated male specific lethal (MSL) complex. Global developmental delay, autism spectrum disorder, muscle tone abnormalities, macrocephaly, gastrointestinal problems, facial dysmorphic features and hypoplasia of the cerebellar vermis are the main features. Females and male seem to be equally affected. About 40 patients have been described in the literature to date.
MSL3