Conditions / Syndrome
Shukla-Vernon syndrome
info · Syndrome
A syndrome characterized by global developmental delay, variably impaired intellectual development, variable dysmorphic features, and behavioral abnormalities, including autism spectrum disorder and ADHD that has_material_basis_in hemizygous mutation in the BC
A syndrome characterized by global developmental delay, variably impaired intellectual development, variable dysmorphic features, and behavioral abnormalities, including autism spectrum disorder and ADHD that has_material_basis_in hemizygous mutation in the BCORL1 gene on chromosome Xq26.1.
Signs and symptoms
- Coarse facial features
- Severe intellectual disability
- Global developmental delay
- Autistic behavior
- Delayed gross motor development
- High forehead
- Delayed speech and language development
- Long fingers
- Hypotonia
- Tapered finger
Also known as: SHUVER