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Keyword - Stickler syndrome (KW-0757)

Definition

Protein which, if defective, causes Stickler syndrome (STL), also known as hereditary progressive arthro-ophthalmopathy. It is a genetically and phenotypically heterogeneous disorder with ocular, oro-facial, auditory and skeletal manifestations. Clinical features include high myopia, vitreo-retinal degeneration, retinal detachment, cleft palate, midfacial hypoplasia, osteoarthritis, and sensorineural hearing loss. Inheritance is autosomal dominant.

Synonyms

  • STL

Category

Disease

Graphical

Stickler syndromeDisease
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