syndromic X-linked intellectual disability 17

Disease Overview

Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals.

Synonyms

• MRXS17
• X-linked intellectual disability with alacrima and achalasia
• X-linked mental retardation with alacrima and achalasia
• intellectual disability, X-linked, syndromic 17
• intellectual disability, X-linked, with alacrima and achalasia
• intellectual disability-alacrima-achalasia syndrome
• mental retardation, X-linked, syndromic 17
• mental retardation, X-linked, syndromic 17, X-linked recessive
• mental retardation, X-linked, with alacrima and achalasia
• syndromic X-linked intellectual disability type 17