Corneal anaesthesia - deafness - intellectual disability (Q61398)

Corneal anaesthesia - deafness - intellectual deficit syndrome is characterised by hypoesthetic corneas, absence of the peripapillary choriocapillaris and retinal pigment epithelium, bilateral sensorineural hearing loss, persistent ductus arteriosus, moderate intellectual deficit and an unusual facial appearance (hypertelorism, flat facial profile, frontal bossing, depressed nasal bridge, and midfacial hypoplasia).