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Stickler syndrome/COL9A2 mutation associated (type 5)
Genetics:
- autosomal recessive
- associated with defects in COL9A2
Clinical manifestations:
- associates ocular signs with
a) absence of cleft palate & Pierre Robin sequence
c) mild sensorineural deafness
- ocular disorders may include
a) myopia
b) vitreoretinal degeneration
c) retinal detachment
- syndrome expressivity is variable
Database Correlations
OMIM 614284
References
OMIM :accession 614284