GTR Home > Conditions/Phenotypes > 1q21.1 recurrent microdeletion


Excerpted from the GeneReview: 1q21.1 Recurrent Microdeletion
The 1q21.1 recurrent microdeletion itself does not appear to lead to a clinically recognizable syndrome as some persons with the deletion have no obvious clinical findings and others have variable findings that most commonly include microcephaly (50%), mild intellectual disability (30%), mildly dysmorphic facial features, and eye abnormalities (26%). Other findings can include cardiac defects, genitourinary anomalies, skeletal malformations, and seizures (~15%). Psychiatric and behavioral abnormalities can include autism spectrum disorders, attention deficit hyperactivity disorder, autistic features, and sleep disturbances.

Available tests

8 tests are in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: ATFB11, CX40, GJA5
    Summary: gap junction protein alpha 5

  • Also known as: CAE, CAE1, CTRCT1, CX50, CZP1, MP70, GJA8
    Summary: gap junction protein alpha 8

Clinical features


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