Conditions / Syndrome
Coffin-Siris syndrome 8
info ยท Syndrome
A Coffin-Siris syndrome characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities and variable occurence of other dysmophic features that has_material_basis
A Coffin-Siris syndrome characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities and variable occurence of other dysmophic features that has_material_basis_in heterozygous mutation in the SMARCC2 gene on chromosome 12q13.
Signs and symptoms
- Intellectual disability
- Global developmental delay
- Hypotonia
- Delayed speech and language development
- Sleep disturbance
- Aggressive behavior
- Hyperactivity
- Self-injurious behavior
- Feeding difficulties
- Poor suck
Also known as: CSS8