autosomal recessive intellectual developmental disorder 48

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the SLC6A17 gene on chromosome 1p13.

Signs and symptoms

• Long philtrum
• Severe intellectual disability
• Aggressive behavior
• High palate
• Hand tremor
• Delayed speech and language development
• Inability to walk by childhood/adolescence
• Global developmental delay
• Narrow palpebral fissure
• Self-injurious behavior