| description | 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 |
Ontology Term --> All ancestors
Ontology Term --> All descendants
Ontology Term --> Direct children
Ontology Term --> Direct parents
