Abruzzo-Erickson Syndrome (ABERS)

Alias:

Cleft Palate-Coloboma-Deafness Syndrome

Abruzzo Erickson Syndrome

Cleft Palate-Coloboma-Hearing Loss Syndrome

Charge-Like Syndrome, X-Linked

Charge-Like Syndrome

Abers

X-Linked Charge-Like Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Abruzzo-Erickson Syndrome, also known as cleft palate-coloboma-deafness syndrome, is related to coloboma of macula and cleft palate colobomata radial synostosis deafness. An important gene associated with Abruzzo-Erickson Syndrome is TBX22 (T-Box Transcription Factor 22). Affiliated tissues include kidney, and related phenotypes are macrotia and cleft palate

Related ID：

MALACARDS：ABR009

OMIM：302905

MESH：C535559