An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke all exhibiting progressive visual impairment as
vasculopathie rétinienne avec leucoencéphalopathie cérébrale et manifestations systémiques
SNOMEDCT-CA (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke all exhibiting progressive visual impairment as / 783787000
Syndrome with characteristics of caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.
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