Disease #00230 (AS (syndrome, Angelman (AS)), OMIM:105830)

Official abbreviation AS
Name syndrome, Angelman (AS)
OMIM ID 105830
Human Phenotype Ontology Project (HPO) HPO
Inheritance AD
Individuals reported having this disease 131
Phenotype entries for this disease 137
Associated with 3 genes CDKL5, MECP2, UBE3A
Associated tissues -
Disease features -
Remarks -


Individuals

131 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00080999 - Trujillano et al., submitted unaffected non-carrier parents - - - - - 0 - - AS Angelman syndrome (OMIM:105830) UBE3A UBE3A 1 1 Daniel Trujillano
00112705 - PubMed: Takano 2010 - - - - - - 0 - - AS - TCF4 TCF4 1 1 Irina Giurgea
00112749 - PubMed: Takano 2010 - - - - - - 0 - - AS - TCF4 TCF4 1 1 Irina Giurgea
00114905 19377282-Pat? PubMed: Tarpey 2009 - F - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - AS absence of speech, severe developmental delay, ataxic gait, hypermotoric behavior, easily excitable personality (uplifted hand-flapping), microcephaly, intractable seizures, brachycephaly, wide mouth, widely dispersed teeth, progressive prognathism; Angelman syndrome CDKL5 CDKL5 1 1 Lucy Raymond
00229578 - Yakoreva et al. submitted - M - Estonia - - 0 - - AS - - UBE3A 1 1 Sander Pajusalu
00271303 - PubMed: Zogel 2006, Journal: Zogel 2006 analysis transmission haplotypes in AS-ID patients - - - - - 0 - - AS - SNRPN SNRPN 6 1 Johan den Dunnen
00271304 - PubMed: Zogel 2006, Journal: Zogel 2006 analysis transmission haplotypes in AS-ID patients - - - - - 0 - - AS - SNRPN SNRPN 6 1 Johan den Dunnen
00271305 - PubMed: Zogel 2006, Journal: Zogel 2006 analysis transmission haplotypes in AS-ID patients - - - - - 0 - - AS - SNRPN SNRPN 6 1 Johan den Dunnen
00271306 - PubMed: Zogel 2006, Journal: Zogel 2006 analysis transmission haplotypes in AS-ID patients - - - - - 0 - - AS - SNRPN SNRPN 6 1 Johan den Dunnen
00271307 - PubMed: Zogel 2006, Journal: Zogel 2006 analysis transmission haplotypes in AS-ID patients - - - - - 0 - - AS - SNRPN SNRPN 6 1 Johan den Dunnen
00271308 - PubMed: Zogel 2006, Journal: Zogel 2006 analysis transmission haplotypes in AS-ID patients - - - - - 0 - - AS - SNRPN SNRPN 6 1 Johan den Dunnen
00275709 Fam1 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275710 Fam2 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275711 Fam3 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275712 Fam4 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275713 Fam5 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275714 Fam6 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275715 Fam7 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275716 Fam8 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275717 Fam9 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275718 Fam10 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275719 Fam11 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275720 Fam12 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275721 Fam13 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275722 Fam14 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275723 Fam15 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275724 Fam16 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275725 Fam17 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275726 Fam18 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275727 Fam19 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275728 Fam20 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275729 Fam21 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275730 Fam22 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275731 Fam23 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275732 Fam24 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275733 Fam25 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275734 Fam26 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275735 Fam27 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275736 Fam28 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275737 Fam29 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275738 Fam30 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275739 Fam31 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275740 Fam32 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275741 Fam33 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275742 Fam34 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275743 Fam35 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275744 Fam36 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275745 Fam37 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275746 Fam38 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275747 Fam39 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275748 Fam40 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275749 Fam41 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275750 Fam42 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275751 Fam43 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275752 Fam44 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275753 Fam45 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275754 Fam46 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275755 Fam47 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275756 Fam48 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275757 Fam49 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275758 Fam50 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275759 Fam51 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275760 Fam52 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275761 Fam53 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275762 Fam54 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275763 Fam55 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275764 Fam56 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275765 Fam57 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275766 Fam58 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275767 Fam59 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275768 Fam60 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275769 Fam61 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275770 Fam62 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275771 Fam63 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275772 Fam64 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275773 Fam65 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275774 Fam66 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275775 Fam67 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275776 Fam68 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275777 Fam69 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275778 Fam70 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275779 Fam71 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275780 Fam72 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275781 Fam73 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275782 Fam74 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275783 Fam75 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275784 Fam76 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275785 Fam77 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275786 Fam78 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275787 Fam79 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275788 Fam80 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275789 Fam81 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275790 Fam82 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275791 Fam83 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275792 Fam84 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275793 Fam85 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275794 Fam86 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275795 Fam87 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275796 Fam88 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
00275797 Fam89 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - 0 - - AS - SNRPN SNRPN 6 1 Jasmin Beygo
Legend   How to query   « First ‹ Prev     1 2     Next › Last »