Disease #00282

Official abbreviation KABUK-1
Name Kabuki syndrome, type 1 (KABUK-1)
OMIM ID 147920
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 883
Phenotype entries for this disease 873
Associated with 1 gene KMT2D
Associated tissues -
Disease features autosomal dominant
Remarks -


Individuals

883 entries on 9 pages. Showing entries 1 - 100.
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Genes screened

Variants in genes

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00019621 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019622 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019623 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019624 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019625 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019626 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019627 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019628 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019629 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019630 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019631 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019632 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019633 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019634 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019635 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019636 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019637 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019638 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019639 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019640 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019641 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019642 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019643 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019644 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019645 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019646 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019647 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019648 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019649 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019650 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019651 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019652 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019653 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019654 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019655 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019656 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019657 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019658 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Giuseppe Merla
00019659 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 2 1 B. Augello
00019660 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 B. Augello
00019661 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 B. Augello
00019662 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 B. Augello
00019663 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 B. Augello
00019664 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 B. Augello
00019665 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 B. Augello
00019666 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 B. Augello
00019667 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 2 1 B. Augello
00019668 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 B. Augello
00019669 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 2 1 B. Augello
00019670 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 2 1 B. Augello
00019671 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 2 1 B. Augello
00019673 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 B. Augello
00019674 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 2 1 B. Augello
00019675 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 B. Augello
00019676 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 B. Augello
00019677 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 B. Augello
00019678 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 B. Augello
00019679 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 B. Augello
00019680 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 B. Augello
00019681 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 B. Augello
00019682 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 B. Augello
00019683 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 B. Augello
00019684 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 B. Augello
00019685 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 B. Augello
00019686 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 B. Augello
00019687 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 B. Augello
00019688 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 B. Augello
00019689 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 B. Augello
00019690 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Johan den Dunnen
00019691 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Johan den Dunnen
00019692 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Johan den Dunnen
00019693 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Johan den Dunnen
00019694 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Johan den Dunnen
00019695 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Johan den Dunnen
00019696 - - - - - Italy - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Johan den Dunnen
00047868 - PubMed: Paderova 2016, Journal: Paderova 2016 - M no Czech Republic - - 0 - - KABUK-1 see paper; ... KMT2D KMT2D 1 1 Jana Paderova
00047869 - PubMed: Paderova 2016, Journal: Paderova 2016 - M no Czech Republic Caucasian - 0 - - KABUK-1 see paper; ... KMT2D KMT2D 1 1 Jana Paderova
00047870 - PubMed: Paderova 2016, Journal: Paderova 2016 - F no Czech Republic Caucasian - 0 - - KABUK-1 see paper; ... KMT2D KMT2D 1 1 Jana Paderova
00056501 - PubMed: Ng 2010 - - - - - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Vincent Gatinois
00056502 - PubMed: Ng 2010 - - - - - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Vincent Gatinois
00056503 - PubMed: Ng 2010 - - - - - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Vincent Gatinois
00056504 - PubMed: Ng 2010 - - - - - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Vincent Gatinois
00056505 - PubMed: Ng 2010 - - - - - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Vincent Gatinois
00056506 - PubMed: Ng 2010 - - - - - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Vincent Gatinois
00056507 - PubMed: Ng 2010 - - - - - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Vincent Gatinois
00056508 - PubMed: Ng 2010 - - - - - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Vincent Gatinois
00056509 - PubMed: Ng 2010 - - - - - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Vincent Gatinois
00056510 - PubMed: Ng 2010 - - - - - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Vincent Gatinois
00056511 - PubMed: Ng 2010 - - - - - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Vincent Gatinois
00056512 - PubMed: Ng 2010 - - - - - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Vincent Gatinois
00056513 - PubMed: Ng 2010 - - - - - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Vincent Gatinois
00056514 - PubMed: Ng 2010 - - - - - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Vincent Gatinois
00056515 - PubMed: Ng 2010 - - - - - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Vincent Gatinois
00056516 - PubMed: Ng 2010 - - - - - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Vincent Gatinois
00056517 - PubMed: Ng 2010 - - - - - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Vincent Gatinois
00056518 - PubMed: Ng 2010 - - - - - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Vincent Gatinois
00056519 - PubMed: Ng 2010 - - - - - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Vincent Gatinois
00056520 - PubMed: Ng 2010 - - - - - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Vincent Gatinois
00056521 - PubMed: Ng 2010 - - - - - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Vincent Gatinois
00056522 - PubMed: Ng 2010 - - - - - - 0 - - KABUK-1 - KMT2D KMT2D 1 1 Vincent Gatinois
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