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Kabuki syndrome
Relevant markers:
Brachydactyly of fingersClinodactyly 5th fingerCoarctation of aortaMicrocephalyCongenital diaphragmatic hernia (CDH)Parents markers:Cleft in hard palateEar sizeHeartInterventricular / interatrial septumUrinaryVertebral body
Incidence: 1/32000 — - Involved genes:
(gene — definition — chromosome)MLL2, KMT2D — LYSINE-SPECIFIC METHYLTRANSFERASE 2D — 12q13.12 Inheritance mode: AD Other online databases: OrphaNet: ORPHA2322, OMIM References: 2010 Pediatr Cardiol Comment Read on PubMed 2012 Echocardiography Case report Read on PubMed 2012 J Hum Genet. Review Read on PubMed Login for more details.