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Intellectual disability-alacrima-achalasia syndrome

Disease definition

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.

ORPHA:289483

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • OMIM: 300858
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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