DO_rare_slim has material basis in chromosomal deletion syndrome AMME complex MIM:300194 DOID:0111860 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. AMME syndrome ORDO:86818 SNOMEDCT_US_2025_09_01:720982007 disease_ontology ATS-MR Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome MESH:C564570 UMLS_CUI:C1846242 chromosome Xq22.3 telomeric deletion syndrome syndrome deletion chromosome