Term Name: | syndromic X-linked intellectual disability 17 |
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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 ) |