Belgian Genetic Tests database
Coats plus syndrome
| Name: |
Coats plus syndrome
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| Description: |
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.
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| ORPHAcode: |
313838
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| Synonyms: |
CRMCC
Cerebroretinal microangiopathy with calcifications and cysts
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| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
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| Changed: |
22 Jun 2023 - 16:14
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