Syndromic X-linked intellectual disability 17

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

0 clinical trials for this condition and its sub-types, 0 tagged with Syndromic X-linked intellectual disability 17 itself.