MedGen

An autosomal dominant condition caused by mutations(s) in the CTBP1 gene, encoding C-terminal-binding protein 1. It is characterized by hypotonia, ataxia, developmental delay, and tooth enamel defects. [from NCI]

Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008). [from OMIM]