Syndromic X-linked intellectual disability 17
Syndromic X-linked intellectual disability 17
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.
Also known as intellectual disability-alacrima-achalasia syndrome, intellectual disability, X-linked, syndromic 17, mental retardation, X-linked, syndromic 17, mental retardation, X-linked, syndromic 17, X-linked recessive, syndromic X-linked intellectual disability type 17, X-linked intellectual disability with alacrima and achalasia — per MONDO