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DO Term : SATB2-associated syndrome [DOID:0060428] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • monosomy 2q32,
  • monosomy 2q32-q33,
  • Glass syndrome,
  • chromosome 2q32-q33 deletion syndrome,
  • 612313,
  • ICD10CM:Q93.5,
  • monosomy 2q32q33,
  • ORDO:251019,
  • OMIM:612313,
  • 2q32-q33 microdeletion syndrome,
  • MESH:C567350,
  • 2q32q33 microdeletion syndrome
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents