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Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome

Disease definition

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.

ORPHA:86818

Classification level: Disorder
  • Synonym(s):
    • AMME complex
    • AMME syndrome
    • ATS-MR
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: -
  • ICD-10: Q87.8
  • OMIM: 300194  300990
  • UMLS: C1846242
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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