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GTR Home > Conditions/Phenotypes > Dysostosis multiplex, Ain-Naz type

Dysostosis multiplex, Ain-Naz type

Summary

The Ain-Naz type of dysostosis multiplex (DMAN) is a severe progressive skeletal dysplasia with features of a metabolic disorder. Patients exhibit marked short stature, coarse facies with broad nose and prominent lips, and a distended abdomen, and experience severe physical disability. Early death has been observed in some patients (Ain et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: C14orf109, DMAN, GCAF, TMEM251, LYSET
    Summary: lysosomal enzyme trafficking factor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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