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3MC syndrome type 1
Genetics:
- associate with defects in MASP1
Clinical manifestations:
- facial dysmorphism
- hypertelorism
- blepharophimosis
- blepharoptosis
- highly arched eyebrows
- cleft lip &/or cleft palate
- craniosynostosis
- learning disability
- genital, limb & vesicorenal anomalies
General
3MC syndrome
Database Correlations
OMIM 257920
References
OMIM :accession 257920