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Knobloch syndrome

Genetics: - autosomal recessive - associated with defects in COL18A1 (type 1) [1] Clinical manifestations: - myopia - vitreoretinal degeneration with retinal detachment - macular abnormalities - occipital encephalocele

General

genetic syndrome (multisystem disorder)

Database Correlations

OMIM 267750

References

  1. OMIM :accession 267750