KBHS is characterized by global developmental delay, intellectual disability, hypotonia, and motor issues. Psychiatric conditions, seizures, connective tissue disease signs, sleep disturbance, and other organ anomalies could also be found. 25 individuals with heterozygous MSL2 variants have been reported in literature. 23 of them have been confirmed de novo variants. Frameshift (15/25), nonsense (6/25), missense (3/25) and complex (1/25) variants have been reported.
MSL2