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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.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory