Coats plus syndrome
Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.
MONDO:0020247
congenital vitreoretinal dysplasia
is_a
MONDO:0100137
telomere syndrome
is_a
CRMCC
exact
cerebroretinal microangiopathy with calcfications and cysts
exact
cerebroretinal microangiopathy with calcifications and cysts
exact
SPBC409.12c SPAC26H5.06