Coffin-Siris syndrome 11

A Coffin-Siris syndrome characterized by global developmental delay and impaired intellectual development associated with hypotonia, feeding difficulties, and variable dysmorphic features that has_material_basis_in heterozygous mutation in the SMARCD1 gene on

A Coffin-Siris syndrome characterized by global developmental delay and impaired intellectual development associated with hypotonia, feeding difficulties, and variable dysmorphic features that has_material_basis_in heterozygous mutation in the SMARCD1 gene on chromosome 12q13.12.

Signs and symptoms

• Delayed speech and language development
• Global developmental delay
• Feeding difficulties in infancy
• Intellectual disability
• Delayed ability to walk
• Hypotonia
• Small hand
• Low posterior hairline
• Uplifted earlobe
• High palate

Also known as: CSS11