craniolenticulosutural dysplasia

Genetics

• autosomal recessive
• associated with defects in SEC23A gene

Clinical manifestations

• late-closing fontanels
• sutural cataracts
• facial dysmorphisms
• skeletal defects

More general terms

• developmental disorder
• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/607812