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GTR Home > Conditions/Phenotypes > SRD5A3-congenital disorder of glycosylation

SRD5A3-congenital disorder of glycosylation

Synonyms
CDG Iq; COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES; Congenital disorder of glycosylation type 1Q; Ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities; SRD5A3-CDG; SRD5A3-CDG (CDG-Iq)

Summary

SRD5A3-congenital disorder of glycosylation (SRD5A3-CDG, formerly known as congenital disorder of glycosylation type Iq) is an inherited condition that causes neurological and vision problems and other signs and symptoms. The pattern and severity of this condition's features vary widely among affected individuals.\n\nIndividuals with SRD5A3-CDG typically develop signs and symptoms of the condition during infancy or early childhood. Most individuals with SRD5A3-CDG have intellectual disability, vision problems, unusual facial features,low muscle tone (hypotonia), and problems with coordination and balance (ataxia). \n\nVision problems in SRD5A3-CDG often include involuntary side-side movements of the eyes (nystagmus), a gap or hole in one of the structures of the eye (coloboma), underdevelopment of the nerves that carry signals between the eyes and the brain(optic nerve hypoplasia), or vision loss early in life (early-onset severe retinal dystrophy). Over time, affected individuals may develop clouding of the lenses of the eyes (cataracts) or increased pressure in the eyes (glaucoma).\n\nOther features of SRD5A3-CDG can include skin rash, unusually small red blood cells (microcytic anemia),and liver problems. [from MedlinePlus Genetics]

Available tests

36 tests are in the database for this condition.

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Clinical tests (36 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDG1P, CDG1Q, KRIZI, S5AR, S5AR 3, SRD5A2L, SRD5A2L1, SRD5A3
    Summary: steroid 5 alpha-reductase 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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