Corneal anaesthesia - deafness - intellectual disability (Q61398): Difference between revisions

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+August 2026Timestamp +2026-08-13T00:00:00Z
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Latest revision as of 08:53, 14 August 2026

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).

Language	Label	Description	Also known as
default for all languages	ID_1441837186
English	Corneal anaesthesia - deafness - intellectual disability	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).