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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
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 608578
References
OMIM :accession 608578