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GTR Home > Conditions/Phenotypes > Kabuki syndrome 1

Summary

Excerpted from the GeneReview: Kabuki Syndrome
Kabuki syndrome (KS) is characterized by typical facial features (long palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild-to-moderate intellectual disability, and postnatal growth deficiency. Other findings may include: congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, ptosis and strabismus, and widely spaced teeth and hypodontia. Functional differences can include: increased susceptibility to infections and autoimmune disorders, seizures, endocrinologic abnormalities (including isolated premature thelarche in females), feeding problems, and hearing loss.

Available tests

73 tests are in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: KABUK2, UTX, bA386N14.2, KDM6A
    Summary: lysine demethylase 6A

  • Also known as: AAD10, ALR, BCAHH, CAGL114, KABUK1, KMS, MLL2, MLL4, TNRC21, KMT2D
    Summary: lysine methyltransferase 2D

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