8p23.1 Microdeletion Syndrome

8p23.1 Microdeletion Syndrome(来自ICD-11)

别称:

Monosomy 8p23.1

Del(8)(p23.1)

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

8p23.1 Microdeletion Syndrome, also known as monosomy 8p23.1, is related to microcephaly and strabismus. An important gene associated with 8p23.1 Microdeletion Syndrome is GATA4 (GATA Binding Protein 4). Affiliated tissues include heart and eye, and related phenotypes are global developmental delay and intellectual disability, mild

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