The most prominent features of MBTPS2-related diseases are: ichthyosis/skin abnormalities, photophobia, corneal erosions and ulcerations, vascularizing keratitis, orofacial clefting, congenital heart disease, genitourinary malformations, Hirschsprung disease, bony abnormalities, structural brain differences, developmental delay, intellectual disability and seizures. For individuals with the Osteogenesis imperfecta phenotype, disease manifestations are typically limited to the skeleton and include fragile bones and recurrent fractures.
MBTPS2