autosomal recessive intellectual developmental disorder 46

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NDST1 gene on chromosome 5q33.

Signs and symptoms

• Delayed fine motor development
• Intellectual disability
• Delayed speech and language development
• Global developmental delay
• Delayed gross motor development
• Seizure
• Hypotonia
• Aggressive behavior
• Poor speech
• Short stature