AMME complex (DOID:0111860)
Alliance: disease page
Synonyms: Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME syndrome; ATS-MR; chromosome Xq22.3 telomeric deletion syndrome
Alt IDs: OMIM:300194, MESH:C564570, ORDO:86818, UMLS_CUI:C1846242
Definition: A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has_material_basis_in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3.