autosomal dominant intellectual developmental disorder 63 with macrocephaly

An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIO gene on chromosome 5p15.

Signs and symptoms

• Intellectual disability
• Delayed speech and language development
• Delayed ability to walk
• Macrocephaly
• Frontal bossing
• Feeding difficulties in infancy
• Obsessive-compulsive trait
• Scoliosis
• Global developmental delay
• Motor stereotypy