syndromic X-linked intellectual disability 17 (DOID:0060803)
Alliance: disease page
Synonyms: intellectual disability-alacrima-achalasia syndrome; mental retardation, X-linked, syndromic 17; X-linked mental retardation with alacrima and achalasia
Alt IDs: OMIM:300858, ORDO:289483
Definition: 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.