Bainbridge-Ropers syndrome

A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features and that has_material_basis_in heterozygous mutation in

A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features and that has_material_basis_in heterozygous mutation in the ASXL3 gene on chromosome 18q12.

Signs and symptoms

• Epicanthus
• Autism
• Intellectual disability
• Global developmental delay
• Metopic synostosis
• Sloping forehead
• Upslanted palpebral fissure
• Short columella
• Failure to thrive
• Motor stereotypy

Also known as: ASXL3-related disorder