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DOID:0060803 - syndromic X-linked intellectual disability 17
Disease Ontology 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.
Synonyms: X-linked mental retardation with alacrima and achalasia, intellectual disability-alacrima-achalasia syndrome, mental retardation, X-linked, syndromic 17,
Echinobase Genes
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Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee