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Summary Literature (0)
DOID:0111860 - AMME complex


Disease Ontology 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.

Synonyms: AMME syndrome, ATS-MR, Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome, chromosome Xq22.3 telomeric deletion syndrome

In OMIM:
OMIM:300194 - AMME COMPLEX


Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : ammecr1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): chromosomal deletion syndrome (is_a), syndrome (is_a)