Conditions / Syndrome
Cornelia de Lange syndrome 2
info · Syndrome
A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11.
Signs and symptoms
- Narrow forehead
- Poor speech
- Short foot
- Short stature
- Anteverted nares
- Brachydactyly
- Gastroesophageal reflux
- Cognitive impairment
- Smooth philtrum
- Thin upper lip vermilion