Table 2. Summary of the intragenic nucleotide changes in CASK and phenotypic features of the patients.

M; male, F; female, NA; not available, DN; de novo, XLR; X-linked recessive trait, MICPCH; microcephaly with pontine and cerebellar hypoplasia, MCA; multiple congenital anomalies, DD; developmental disorder, ASD; autism spectrum disorder, ID; intellectual disability, DDDS; Deciphering Developmental Disorders Study.