syndromic X-linked intellectual disability 17

Rare Disease

MONDO:0010460

Also Known As

X-linked intellectual disability with alacrima and achalasiaX-linked mental retardation with alacrima and achalasiaintellectual disability, X-linked, syndromic 17intellectual disability-alacrima-achalasia syndromemental retardation, X-linked, syndromic 17mental retardation, X-linked, syndromic 17, X-linked recessivesyndromic X-linked intellectual disability type 17MRXS17intellectual disability, X-linked, with alacrima and achalasiamental retardation, X-linked, with alacrima and achalasia

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.