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Moyamoya disease 7

Summary

Moyamoya disease-7 (MYMY7) is a cerebrovascular disease that leads to strokes and neurologic deficits. The age at symptom onset is highly variable, ranging from childhood to adulthood. Brain imaging shows progressive occlusion and stenosis of the distal internal carotid arteries with collateral vessel formation. Intracranial aneurysms and involvement of the posterior circulation, including the basilar artery, may also be observed (Pinard et al., 2023). For a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: DOG1, INDMS, MYMY7, ORAOV2, TAOS2, TMEM16A, ANO1
    Summary: anoctamin 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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