syndromic X-linked intellectual disability 17

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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 17MRXS17
  • 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