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About: SATB2-associated syndrome     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
type
subClassOf
label
  • SATB2-associated syndrome
described by
id
  • DOID:0060428
created_by
  • elvira
creation_date
  • 2015-10-01T15:37:11Z
database_cross_reference
  • ICD10CM:Q93.5
  • OMIM:612313
  • ORDO:251019
has_exact_synonym
  • 2q32-q33 microdeletion syndrome (en)
  • 2q32q33 microdeletion syndrome (en)
  • Glass syndrome (en)
  • chromosome 2q32-q33 deletion syndrome
  • monosomy 2q32 (en)
  • monosomy 2q32-q33 (en)
  • monosomy 2q32q33 (en)
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • A syndrome that has_material_basis_in genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak, severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2.
is topic of
is annotatedSource of
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