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.
MONDO:0020119
X-linked syndromic intellectual disability
is_a
MRXS17
related
X-linked intellectual disability with alacrima and achalasia
exact
intellectual disability, X-linked, syndromic 17
exact
intellectual disability-alacrima-achalasia syndrome
exact
mental retardation, X-linked, syndromic 17
exact
mental retardation, X-linked, syndromic 17, X-linked recessive
exact
mental retardation, X-linked, with alacrima and achalasia
related
syndromic X-linked intellectual disability type 17
exact