Term Name: AMME complex
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 )

Relationships
is a type of: chromosomal deletion syndrome syndrome