Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome

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Synonyms: AMME complex | AMME syndrome | ATS-MR

A rare constitutional hemolytic anemia that is characterised by the association of Alport syndrome midface hypoplasia intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5 FACL4 and AMMECR1.

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 May 2024

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