autosomal recessive intellectual developmental disorder 67

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation or compound heterozygous mutation in the EIF3F gene on chromosome 11p15.

Signs and symptoms

• Delayed speech and language development
• Global developmental delay
• Delayed ability to walk
• Sensorineural hearing impairment
• Hypotonia
• Short stature
• Posteriorly rotated ears
• Delayed ability to sit
• Microcephaly
• Absent speech