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About: syndromic X-linked intellectual disability 17     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
type
subClassOf
label
  • syndromic X-linked intellectual disability 17
described by
id
  • DOID:0060803
database_cross_reference
  • OMIM:300858
  • ORDO:289483
has_exact_synonym
  • X-linked mental retardation with alacrima and achalasia (en)
  • mental retardation, X-linked, syndromic 17 (en)
  • intellectual disability-alacrima-achalasia syndrome (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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