SATB2-associated syndrome

Term ID

DOID:0060428

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

• ICD10CM:Q93.5
• MESH:C567350
• MIM:612313
• ORDO:251019

Ontology

Human Disease   ( DOID:0060428 )