autosomal recessive intellectual developmental disorder 38

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HERC2 gene on chromosome 15q13.

Signs and symptoms

• Delayed speech and language development
• Delayed ability to walk
• Global developmental delay
• Intellectual disability
• Autistic behavior
• Unsteady gait
• Neonatal hypotonia
• Self-mutilation
• Echolalia
• Strabismus