Amme Complex (ATS-MR)

Alias:

Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis

Ats-Mr

Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome

Chromosome Xq22.3 Telomeric Deletion Syndrome

Amme Syndrome

Alport Syndrome with Intellectual Disability, Midface Hypoplasia and Elliptocytosis

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Amme Complex, also known as alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis, is related to x-linked alport syndrome and alport syndrome. An important gene associated with Amme Complex is AMMEC (Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis). Affiliated tissues include lung and heart, and related phenotypes are depressed nasal bridge and anteverted nares

Related ID：

MALACARDS：AMM001

OMIM：300194

MESH：C564570