Synonyms: SATB2-associated syndrome due to a point mutation
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
Newly diagnosed with
SATB2-associated syndrome due to a pathogenic variant?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
SATB2 Connect
SATB2 Connect will work together with national and international organisations, Australian universities, and medical research institutes to collaborate on awareness, advocacy, and research projects to become a well-supported and informed community to further empower families to ensure they have optimised support necessary for quality of life.
SATB2 Gene Foundation
The SATB2 Gene Foundation was established to enrich the lives of individuals with SATB2-associated syndrome (SAS), including those diagnosed with the condition and their families, through support, research, & education. Our mission will be met by: - Raising awareness about characteristics of SAS - Providing support to families - Supporting research in a wide range of issues related to SAS
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Clinical Trials
For a list of clinical trials in this disease area, please click here.