GTR Home > Conditions/Phenotypes > Cerebroretinal microangiopathy with calcifications and cysts 3

Cerebroretinal microangiopathy with calcifications and cysts 3

Summary

Cerebroretinal microangiopathy with calcifications and cysts-3 (CRMCC3) is an autosomal recessive disorder characterized by intrauterine growth retardation, retinal exudates, intracranial calcifications, and leukoencephalopathy. Additional features may include global developmental delay and gastrointestinal ectasias. Telomeres may be elongated, but truncated shortened telomeres are present in some tissues (Takai et al., 2016). For a discussion of genetic heterogeneity of CRMCC, see CRMCC1 (612199). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CMM10, CRMCC3, GLM9, HPOT1, PFBMFT8, TPDS3, POT1
    Summary: protection of telomeres 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.