Nanophthalmos 2

Synonyms: NANOPHTHALMIA 2; NANOPHTHALMOS, AUTOSOMAL RECESSIVE

Summary

Patients with nanophthalmos-2 (NNO2) have eyes with an unusually short axial length, with extreme hyperopia. Retinas show patches of hypopigmentation in the lateral fundus. Cornea and lens are normal in size and refractive power, and dark adaptation of photoreceptors is only modestly impaired (Sundin et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of nanophthalmos, see NNO1 (600165). [from OMIM]

Available tests

33 tests are in the database for this condition.

Clinical tests (33 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

MFRP
Also known as: CTRP5, MCOP5, NNO2, RD6, MFRP
Summary: membrane frizzled-related protein

Imported from Human Phenotype Ontology (HPO)

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Abnormality of the eye
- Microphthalmia
  Microphthalmia
  - MedGen UID: 10033
  - Concept ID: C0026010
  - Finding: Congenital Abnormality
  Abnormality of the eye
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Clinical resources

Molecular resources

Consumer resources

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