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GTR Home > Conditions/Phenotypes > COG5-congenital disorder of glycosylation

COG5-congenital disorder of glycosylation

Synonyms
CDG IIi; COG5-CDG; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; Congenital disorder of glycosylation type 2i
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

COG5-congenital disorder of glycosylation (COG5-CDG, formerly known as congenital disorder of glycosylation type IIi) is an inherited condition that causes neurological problems and other abnormalities. The pattern and severity of this disorder's signs and symptoms vary among affected individuals.\n\nIndividuals with COG5-CDG typically develop signs and symptoms of the condition during infancy. These individuals often have weak muscle tone (hypotonia) and delayed development. Other neurological features include moderate to severe intellectual disability, poor coordination, and difficulty walking. Some affected individuals never learn to speak. Other features of COG5-CDG include short stature, an unusually small head size (microcephaly), and distinctive facial features, which can include ears that are set low and rotated backward, a short neck with a low hairline in the back, and a prominent nose. Less commonly, affected individuals can have hearing loss caused by changes in the inner ear (sensorineural hearing loss), vision impairment, damage to the nerves that control bladder function (a condition called neurogenic bladder), liver disease, and joint deformities (contractures). [from MedlinePlus Genetics]

Available tests

28 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (28 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDG2I, GOLTC1, GTC90, COG5
    Summary: component of oligomeric golgi complex 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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