autosomal recessive intellectual developmental disorder 13

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRAPPC9 gene on chromosome 8q24.

Signs and symptoms

• Intellectual disability
• Secondary microcephaly
• Truncal obesity
• Smooth philtrum
• Hyperactivity
• Delayed speech and language development
• Hypoplasia of the corpus callosum
• Short neck
• Short philtrum
• Delayed ability to walk