Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

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Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

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 September 2023.

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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.

Youth and Women for Opportunities Uganda-YWOU

Youth and Women for Opportunities-YWOU an organization that we represent is patient organization re-presentative, patient and institution and individual capacity builder supporting PLWRD’s to obtain diagnosis, treatment and drugs for those suffering consequences of being undiagnosed or misdiagnosed and lack treatment and those who lack precise diagnosis for rare, orphan and undiagnosed diseases preventing PLWRD’s accessing the most adapted care, treatment or surgery, have delayed access to the most appropriate care, treatment or surgery

Clinical Trials

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