AMME complex

Term ID

DOID:0111860

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. https://pubmed.ncbi.nlm.nih.gov/12011158/

References

• MESH:C564570
• OMIM:300194
• ORDO:86818
• SNOMEDCT_US_2023_03_01:720982007
• UMLS_CUI:C1846242

Ontology

Human Disease   ( DOID:0111860 )