syndromic X-linked intellectual disability 17

A syndromic X-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or anisocoria that has_material_basis_in varia

A syndromic X-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or anisocoria that has_material_basis_in variation in the chromosome region Xp21.1-p11.23.

Signs and symptoms

• Absent speech
• Global developmental delay
• Motor delay
• Intellectual disability
• Alacrima
• Achalasia
• Ventriculomegaly
• Anisocoria
• Abnormality of adrenal physiology

Also known as: X-linked mental retardation with alacrima and achalasia; intellectual disability-alacrima-achalasia syndrome; mental retardation, X-linked, syndromic 17