Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

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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 June 2024

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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

Our mission supports Rare, orphan and undiagnosed diseases diagnosis, care and treatment, education, awareness and empowering health care professionals and patients care takers of rare, orphan and undiagnosed diseases arena in Uganda, build capacity and bridge lack of clinical knowledge and experience and provide search/quest for diagnostic laboratories, I advocate for changes in laws, practices

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Clinical Trials

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