autosomal recessive intellectual developmental disorder 82

An autosomal recessive intellectual developmental disorder characterized by global developmental delay with motor and speech delay, variably impaired intellectual development, and behavioral abnormalities has_material_basis_in homozygous mutation in the NSUN6

An autosomal recessive intellectual developmental disorder characterized by global developmental delay with motor and speech delay, variably impaired intellectual development, and behavioral abnormalities has_material_basis_in homozygous mutation in the NSUN6 gene on chromosome 10p12.

Signs and symptoms

• Cerebellar vermis hypoplasia
• Delayed speech and language development
• Global developmental delay
• Intellectual disability
• Motor delay
• Growth delay
• Sleep disturbance
• Aggressive behavior
• Autism
• Attention deficit hyperactivity disorder