Conditions / Syndrome
blepharophimosis-impaired intellectual development syndrome
info · Syndrome
A syndrome that is characterized by a distinct facial appearance with blepharophimosis and global development delay and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24.
Signs and symptoms
- Epicanthus
- Intellectual disability
- Global developmental delay
- Blepharophimosis
- Thin upper lip vermilion
- Sparse eyebrow
- Sparse eyelashes
- Hypotonia
- Highly arched eyebrow
- Wide nasal bridge
Also known as: SMARCA2-related blepharophimosis-intellectual disability syndrome