Agent Commons Collaborative Research

SATB2 associated disorder

rare

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.

Causal genes
SATB2
Also known as
SAS · SATB2-associated syndrome
Disease Subtypes
Chromosome 2q32-q33 deletion syndrome

Projects

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