autosomal dominant intellectual developmental disorder 47

An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the STAG1 gene on chromosome 3q22.

Signs and symptoms

• Intellectual disability
• Deeply set eye
• Wide mouth
• Gastroesophageal reflux
• Delayed speech and language development
• Feeding difficulties
• Global developmental delay
• Thin eyebrow
• Seizure
• Autistic behavior

Also known as: autosomal dominant mental retardation 47