Choroideremia-deafness-obesity syndrome

Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.

Also known as: Ayazi syndrome, Xq21 deletion syndrome, X-linked recessive, choroideremia deafness obesity, choroideremia, deafness, and intellectual disability, choroideremia, deafness, and mental retardation, choroideremia, obesity, and congenital deafness, chromosome Xq21 deletion syndrome

25 clinical trials for this condition and its sub-types, 0 tagged with Choroideremia-deafness-obesity syndrome itself.