Bryant-Li-Bhoj neurodevelopmental syndrome 1

A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones and that has_material_basis_in heteroz

A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones and that has_material_basis_in heterozygous mutation in the H3F3A gene on chromosome 1q42.

Signs and symptoms

• Global developmental delay
• Delayed speech and language development
• Delayed ability to walk
• Delayed ability to sit
• Hypotonia
• Seizure
• Gastroesophageal reflux
• Flexion contracture
• Chronic constipation
• Epicanthus