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autosomal recessive congenital cataracts

Genetics: - autosomal recessive - associated with defects in MIP - associated with defecs in BFSP1 [2] Clinical manifestations: - BFSP1-associated: [2] - juvenile-onset - opacities restricted to the cortex of the lens, not involving the lens nucleus

Specific

cataract congenital autosomal recessive type 4 cataract congenital nuclear autosomal recessive type 2 cataract congenital nuclear autosomal recessive type 3

General

familial cataracts

Database Correlations

OMIM correlations

References

  1. OMIM :accession 154050
  2. OMIM :accession 61139