autosomal recessive intellectual developmental disorder 44

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL23 gene on chromosome 17q25.

Signs and symptoms

• Flat occiput
• Thin vermilion border
• Mild intellectual disability
• Anteverted nares
• Depressed nasal bridge
• Pes planus
• Intellectual disability
• Global developmental delay
• Shawl scrotum
• Bilateral tonic-clonic seizure