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Autosomal recessive Stickler syndrome

Orpha number ORPHA250984
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Childhood
ICD-10
  • Q87.5
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Autosomal recessive Stickler syndrome is a rare type of Stickler syndrome (see this term), found in one family to date, caused by a mutation in the COL9A1 gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms


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Detailed information

Clinical genetics review
  • EN (2013)
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