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Stickler syndrome, type 5

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene.
Uniprot Description An autosomal recessive form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. STL5 is characterized by high myopia, vitreoretinal degeneration, retinal detachment, mild to moderate sensorineural hearing loss, short stature in childhood, and absence of cleft palate and Pierre Robin sequence.
Mondo Term and Equivalent IDs
MONDO:0013666:  Stickler syndrome, type 5
UMLS:C3280342: