Amme Complex

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OMIM 57 300194 MedGen 42 C1846242 MeSH 44 D009394

SNOMED-CT via HPO 69 228156007 247578003 91138005 178935009 191169008 250242004 more UMLS 73 C1846242

UniProtKB/Swiss-Prot : ⁷⁵ Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis: A X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, sensorineural hearing loss, mental retardation, midface hypoplasia and elliptocytosis.

MalaCards based summary : Amme Complex, also known as alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis, is related to alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome. An important gene associated with Amme Complex is AMMEC (Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis). Related phenotypes are intellectual disability and elliptocytosis

Description from OMIM: 300194

Clinical features from OMIM:

300194

Search Clinical Trials , NIH Clinical Center for Amme Complex

Search GEO for disease gene expression data for Amme Complex.