Synonyms: ATR syndrome linked to chromosome 16 | ATR syndrome, deletion type | ATR-16 syndrome | Alpha thalassemia-intellectual disability syndrome, deletion type
A rare developmental defect during embryogenesis a contiguous gene deletion syndrome is a form of alpha-thalassemia characterized by microcytosis hypochromia normal hemoglobin (Hb) level or mild anemia associated with developmental abnormalities.
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 February 2026
Newly diagnosed with
Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16?
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Advocacy Organizations
Genetic Support Network of Victoria
The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.
Organisation for Sickle Cell Anaemia Research (OSCAR) Sandwell Co Ltd
Working together with service users (clients), voluntary and statutory services and stakeholders to support and improve the quality of life for people affected by Sickle Cell and Thalassaemia.
Rare Chromosome Disorder Support Group – Unique
Through sharing knowledge and lived experience, Unique helps families and professionals navigate the world of chromosome and gene disorders
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Clinical Trials
For a list of clinical trials in this disease area, please click here.