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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

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Imported from Human Phenotype Ontology (HPO)

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