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GTR Home > Conditions/Phenotypes > STT3B-congenital disorder of glycosylation

STT3B-congenital disorder of glycosylation

Synonyms
CDG Ix; Congenital disorder of glycosylation type 1x; STT3B-CDG
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Congenital disorder of glycosylation type Ix (CDG1X) is a rare autosomal recessive disorder of protein glycosylation. Clinical features include hypotonia, developmental delay, seizures and respiratory difficulties (Shrimal et al., 2013; Kilic and Akkus, 2020). [from OMIM]

Available tests

14 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (14 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDG1X, SIMP, STT3-B, STT3B
    Summary: STT3 oligosaccharyltransferase complex catalytic subunit B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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