Term Name: | AMME complex |
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Synonyms: | Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome, AMME syndrome, ATS-MR, chromosome Xq22.3 telomeric deletion syndrome |
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. |
Ontology: | Human Disease [DOID:0111860] ( DOID:0111860 ) |