autosomal recessive intellectual developmental disorder 58

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the ELP2 gene on chromosome 18q12.

Signs and symptoms

• Axial hypotonia
• Poor head control
• Spastic diplegia
• Delayed speech and language development
• Absent speech
• Choreoathetosis
• Global developmental delay
• Pica
• Aggressive behavior
• Motor stereotypy