Human genes for AMME complex
AMME complex [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.
Synonyms: AMME complex, AMME complexes, DOID:0111860, Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome, AMME syndrome ...