The following description of clinical features is based primarily on three publications: 1) Twigg et al., Am. J. Hum. Genet 2015, the original paper describes the association between gain-of function mutations in ZIC1 with coronal craniosynostosis and learning disability in five families, 2) Miller et al., J. Med. Genet. 2016, which describes a single individual (Case 16) and 3) Vandervore et al., Eur. J. Med. Genet. 2018, describing two siblings. A fourth publication reported a maternally inherited ZIC1 variant in three pregnancies. So far a total of 16 cases (3 foetal) have been described in the literature.
ZIC1