Cataract 44

Synonyms: CATARACT 44 AND HYPOTRICHOSIS

Summary

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LSS gene. [from MONDO]

Available tests

6 tests are in the database for this condition.

Clinical tests (6 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

LSS
21 tests
Also known as: APMR4, CTRCT44, HYPT14, OSC, LSS
Summary: lanosterol synthase

Imported from Human Phenotype Ontology (HPO)

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Abnormality of the eye
- Developmental cataract
  Developmental cataract
  - MedGen UID: 3202
  - Concept ID: C0009691
  - Finding: Congenital Abnormality
  Abnormality of the eye
  See: Feature record | Search on this feature
- Visual loss
  Visual loss
  - MedGen UID: 784038
  - Concept ID: C3665386
  - Finding: Finding
  Abnormality of the eye
  See: Feature record | Search on this feature

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Clinical resources

Molecular resources

Consumer resources

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