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craniolenticulosutural dysplasia

Genetics: - autosomal recessive - associated with defects in SEC23A gene Clinical manifestations: - late-closing fontanels - sutural cataracts - facial dysmorphisms - skeletal defects

General

developmental disorder genetic syndrome (multisystem disorder)

Database Correlations

OMIM 607812

References

  1. UniProt :accession Q15436
  2. OMIM :accession 607812