Bryant-Li-Bhoj neurodevelopmental syndrome 2

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 nd that has_material_basis_in heterozy

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 nd that has_material_basis_in heterozygous mutation in the H3F3B gene on chromosome 17q25.

Signs and symptoms

• Global developmental delay
• Microcephaly
• Short stature
• Gastroesophageal reflux
• Failure to thrive
• Scoliosis
• Tapered finger
• Prominent fingertip pads
• Hyperconvex nail
• Hearing impairment