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GTR Home > Conditions/Phenotypes > Congenital disorder of deglycosylation 2

Congenital disorder of deglycosylation 2

Summary

Congenital disorder of deglycosylation-2 (CDDG2) is an autosomal recessive disorder with variable associated features such as dysmorphic facies, impaired intellectual development, and brain anomalies, including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis (Maia et al., 2022). For a discussion of genetic heterogeneity of congenital disorder of deglycosylation, see CDGG1 (615273). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CDDG2, MAN6A8, MANA, MANA1, MAN2C1
    Summary: mannosidase alpha class 2C member 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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