mental retardation, X-linked, syndromic 17X-linked mental retardation with alacrima and achalasiaintellectual disability-alacrima-achalasia syndrome
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A syndromic X-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or anisocoria that has_material_basis_in variation in the chromosome region Xp21.1-p11.23.