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.
MONDO:0019118
inherited retinal dystrophy
is_a
Ayazi syndrome
exact
Xq21 deletion syndrome, X-linked recessive
exact
choroideremia deafness obesity
related
choroideremia, deafness, and mental retardation
related
choroideremia, obesity, and congenital deafness
related