autosomal recessive intellectual developmental disorder 5

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NSUN2 gene on chromosome 5p15.

Signs and symptoms

• Hearing impairment
• Moderate intellectual disability
• Gait ataxia
• Spastic gait
• Autism
• Intellectual disability
• Absent speech
• Global developmental delay
• Tube feeding
• Shawl scrotum