Name Autosomal Recessive Stickler Syndrome
Synonyms -
Classification bone, developmental, eye, genetic, otorhinolaryngological, sucking/swallowing, surgical maxillo-facial
Phenotypes Amblyopia; Astigmatism; Cataract; Cleft palate; Epiphyseal dysplasia; Flat face; Genu valgum; Irregular vertebral endplates; Joint hyperflexibility; Malar flattening; Micrognathia; Myopia; Platyspondyly; Retinal detachment; Sensorineural hearing impairment; Short stature; Vitreoretinopathy
Associated Genes LOXL3 , COL9A2 (Withdrawn symbols: EDM2, MED ) , COL9A3 (Withdrawn symbols: DJ885L7.4.1, EDM3, FLJ90759, IDD, MED ) , COL11A1 (Withdrawn symbols: CO11A1, COLL6, DFNA37, STL2 ) , COL9A1
Mouse Orthologs Loxl3 , Col9a2 (Withdrawn symbols: AI427499, Col9a-2 ) , Col9a3 (Withdrawn symbols: AV006866 ) , Col11a1 (Withdrawn symbols: C530001D20Rik, cho ) , Col9a1 (Withdrawn symbols: Col9a-1 )
Source
ORPHA:250984 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)