SATB2 associated disorder
SATB2 associated disorder
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.
Also known as SAS, SATB2 associated disorder, SATB2-associated syndrome — per MONDO
Also identified as
- Orphanet 576278 per MONDO