autosomal recessive intellectual developmental disorder 18

An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development with or without epilepsy and that has_material_basis_in homozygous or compound heterozygous mutation in the MED23 gene on chromosome 6q23.

Signs and symptoms

• Profound intellectual disability
• Sleep disturbance
• Hypoplasia of the pons
• Irritability
• Intellectual disability
• Axial hypotonia
• Absent speech
• Delayed speech and language development
• EEG abnormality
• Expressive language delay