Fliedner-Zweier syndrome

A syndromic intellectual disability characterized by variable manifestations including mild intellectual disability, seizures, behavioral abnormalities, and skeletal and structural anomalies that has_material_basis_in heterozygous mutation in the SCAF4 gene on

A syndromic intellectual disability characterized by variable manifestations including mild intellectual disability, seizures, behavioral abnormalities, and skeletal and structural anomalies that has_material_basis_in heterozygous mutation in the SCAF4 gene on chromosome 21q22.

Signs and symptoms

• Long philtrum
• Esodeviation
• Bulbous nose
• High palate
• Pes planus
• Intellectual disability
• Delayed speech and language development
• Feeding difficulties
• Joint hypermobility
• Global developmental delay

Also known as: SCAF4-related syndromic intellectual disability