Term Name: syndromic X-linked intellectual disability 17
Synonyms: intellectual disability-alacrima-achalasia syndrome, mental retardation, X-linked, syndromic 17, X-linked mental retardation with alacrima and achalasia
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.
Ontology: Human Disease [DOID:0060803]   ( DOID:0060803 )

Relationships
is a type of: syndromic X-linked intellectual disability X-linked recessive disease