Conditions / Syndrome
3MC syndrome 2
info · Syndrome
A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25.
Signs and symptoms
- Hypertelorism
- Highly arched eyebrow
- Ptosis
- Postnatal growth retardation
- Intellectual disability
- Hearing impairment
- Skull asymmetry
- Craniosynostosis
- Strabismus
- Blepharophimosis