Snijders Blok-Campeau syndrome

An autosomal dominant intellectual developmental disorder characterized by global developmental delay with delayed speech acquisition, impaired intellectual development of variable severity, and hypotonia that has_material_basis_in heterozygous mutation in the

An autosomal dominant intellectual developmental disorder characterized by global developmental delay with delayed speech acquisition, impaired intellectual development of variable severity, and hypotonia that has_material_basis_in heterozygous mutation in the CHD3 gene on chromosome 17p13.

Signs and symptoms

• Intellectual disability
• Delayed speech and language development
• Global developmental delay
• Speech apraxia
• Frontal bossing
• Hypertelorism
• Hypotonia
• Macrocephaly
• Epicanthus
• Prominent forehead

Also known as: SNIBCPS