Congenital stationary night blindness autosomal dominant 3

Synonyms: NIGHT BLINDNESS, CONGENITAL STATIONARY, NOUGARET TYPE

Summary

A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21. [from MONDO]

Available tests

21 tests are in the database for this condition.

Clinical tests (21 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

GNAT1
34 tests
Also known as: CSNB1G, CSNBAD3, GBT1, GNATR, HG1F, GNAT1
Summary: G protein subunit alpha transducin 1

Imported from Human Phenotype Ontology (HPO)

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Abnormality of the eye
- Congenital stationary night blindness
  Congenital stationary night blindness
  - MedGen UID: 83289
  - Concept ID: C0339535
  - Finding: Congenital Abnormality
  Abnormality of the eye
  See: Feature record | Search on this feature

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