cerebrofrontofacial syndrome

Genetics

• associated with defects in FLNA

Clinical manifestations

• phenotype of male
• relatively normal development
• no epilepsy or other neurological abnormality
• severe constipation
• facial dysmorphism & without a discernible skeletal phenotype

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/608578