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GENATLAS PHENOTYPE

last update : 05-06-2018

Symbol	STL3
Location	6p21.32
Name	Stickler syndrome, type 3
Other name(s)	osteochondrodysplasia with neurosensory deafness, cleft palate Stickler syndrome, nonocular type
Corresponding gene	COL11A2
Other symbol(s)	OCDD
Main clinical features	without eye involvement, characteristic facial features of Stickler syndrome in combination with hearing impairment, cleft palate or mild arthropathy, whereas ocular signs of the syndrome (high myopia, vitreoretinal degeneration, and retinal detachment) were absent
Genetic determination	autosomal dominant
	autosomal recessive
Function/system disorder	connective tissue
Type	disease

Gene product

Name	collagen type XI, alpha 2 (COL11A2)

Remark(s)