OBO ID: DOID:0060428
Term Name: SATB2-associated syndrome Search Ontology:
Synonyms:
  • 2q32-q33 microdeletion syndrome
  • 2q32q33 microdeletion syndrome
  • chromosome 2q32-q33 deletion syndrome
  • Glass syndrome
  • monosomy 2q32
  • monosomy 2q32-q33
  • monosomy 2q32q33
Definition: 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. (2)
References:
Ontology: Human Disease   ( DOID:0060428 )
Relationships
is a type of:
OTHER SATB2-associated syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SATB2 Glass syndrome 612313
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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