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GTR Home > Conditions/Phenotypes > SSR4-congenital disorder of glycosylation

SSR4-congenital disorder of glycosylation

Synonyms
CDG IY; Congenital disorder of glycosylation type 1y; SSR4-CDG
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

Congenital disorder of glycosylation type Iy (CDG1Y) is an X-linked disorder characterized by developmental delay, speech delay, impaired intellectual development, muscular hypotonia, microcephaly, and distinctive facial features (summary by Johnsen et al., 2024). [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: CDG1Y, TRAPD, SSR4
    Summary: signal sequence receptor subunit 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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