3MC syndrome 2
From BugSigDB
A type of 3MC syndrome which is that has material basis in homozygous mutation in the COLEC11 gene on chromosome 2p25.
- Aliases
- 3MC syndrome 2
- 3MC syndrome 2
- 3MC syndrome caused by mutation in COLEC11
- 3MC syndrome type 2
- 3Mc syndrome type 2
- 3MC2
- Carnevale syndrome
- Carnevale syndrome, formerly
- COLEC11 3MC syndrome
- oculo-skeletal-abdominal syndrome
- Osa syndrome
- ptosis of eyelids with diastasis recti and hip dysplasia
