Popov-Chang syndrome

An autosomal dominant intellectual developmental disorder characterized by global developmental delay and impaired intellectual development with poor or absent speech that has_material_basis_in heterozygous mutation in the YWHAZ gene on chromosome 8q22.

Signs and symptoms

• Increased body weight
• Mild intellectual disability
• Gastroesophageal reflux
• Coarse facial features
• Abnormality of ethmoid sinus
• Sparse eyebrow
• Diminished ability to concentrate
• Moderate global developmental delay
• Cataract
• Dry skin