Conditions / Syndrome
3MC syndrome 1
info · Syndrome
A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mannan binding lectin serine peptidase 1 gene (MASP1) on chromosome 3q27.
Signs and symptoms
- Mild intellectual disability
- Highly arched eyebrow
- Downslanted palpebral fissures
- Periumbilical depression
- Ptosis
- Hearing impairment
- Caudal appendage
- Cleft lip
- Hypertelorism
- Cleft palate