SATB2 associated disorder
Findings
No curated finding names SATB2 associated disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndromic intellectual disability disorder that is characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Most distinctive features are neurodevelopmental with invariably severely limited speech, cleft or high arched palate, dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies.
Definition from the Mondo Disease Ontology (MONDO:0100147), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SATB2HGNC:21637
- Definitive · ClinGen · Autosomal dominant · 2020
- Definitive · Illumina · Autosomal dominant · 2019
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- Narrower terms (1)
Other names
2 names
Resolves to: SATB2 associated disorder
- Also called
- SASSATB2-associated syndrome