Brunet-Wagner neurodevelopmental syndrome

An autosomal recessive intellectual developmental disorder characterized by infantile hypotonia and severely impaired development affecting both motor and cognitive skills that has_material_basis_in homozygous or compound heterozygous mutation in the RBL2 gene

An autosomal recessive intellectual developmental disorder characterized by infantile hypotonia and severely impaired development affecting both motor and cognitive skills that has_material_basis_in homozygous or compound heterozygous mutation in the RBL2 gene on chromosome 16q12.

Signs and symptoms

• Delayed ability to crawl
• Thin eyebrow
• Thick vermilion border
• Motor stereotypy
• Delayed ability to sit
• Round face
• Wide nasal bridge
• Delayed ability to walk
• Increased skull ossification
• Low anterior hairline

Also known as: BRUWAG