disease: Stickler syndrome type 1

nameStickler syndrome type 1
descriptionStickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity.
variant-disease NM_001844.5(COL2A1):c.1680+1G>A AND Stickler syndrome type 1
NM_001844.5(COL2A1):c.1177G>A (p.Gly393Ser) AND Stickler syndrome type 1
NM_001844.5(COL2A1):c.2355+2del AND Stickler syndrome type 1
NM_001844.5(COL2A1):c.2908_2909dup (p.Pro971fs) AND Stickler syndrome type 1
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) AND Stickler syndrome type 1
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