Disease #04543

Official abbreviation JLNS-1
Name Jervell and Lange-Nielsen syndrome (JLNS-1)
OMIM ID 220400
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 16
Phenotype entries for this disease 16
Associated with 1 gene KCNQ1
Associated tissues -
Disease features -
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Individuals

16 entries on 1 page. Showing entries 1 - 16.
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00080935 - Trujillano et al., submitted unaffected parents - - - - - 0 - - JLNS-1 Jervell and Lange-Nielsen syndrome (OMIM:220400) KCNQ1 KCNQ1 1 1 Daniel Trujillano
00081077 - Trujillano et al., submitted unaffected heterozygous carrier parents - - - - - 0 - - JLNS-1 Jervell and Lange-Nielsen syndrome (OMIM:220400) KCNQ1 KCNQ1 1 1 Daniel Trujillano
00147214 10077519-? PubMed: Chen 1999 data from Inherited Arrhythmias web site - - - - - 0 - - JLNS-1 Jervell and Lange-Nielsen Syndrome KCNQ1 KCNQ1 1 1 Johan den Dunnen
00147238 11216980-? PubMed: Piippo 2001 data from Inherited Arrhythmias web site - - - - - 0 - - JLNS-1 Jervell and Lange-Nielsen Syndrome KCNQ1 KCNQ1 1 1 Johan den Dunnen
00147275 9328483-? PubMed: Tyson 1997 data from Inherited Arrhythmias web site - - - - - 0 - - JLNS-1 Jervell and Lange-Nielsen Syndrome KCNQ1 KCNQ1 1 1 Johan den Dunnen
00147331 10704188-? PubMed: Tranebjaerg 1999 data from Inherited Arrhythmias web site - - - - - 0 - - JLNS-1 Jervell and Lange-Nielsen Syndrome KCNQ1 KCNQ1 1 1 Johan den Dunnen
00147332 11530100-? PubMed: Huang 2001 data from Inherited Arrhythmias web site - - - - - 0 - - JLNS-1 Jervell and Lange-Nielsen Syndrome KCNQ1 KCNQ1 1 1 Johan den Dunnen
00147376 9781056-? PubMed: Neyroud 1998 data from Inherited Arrhythmias web site - - - - - 0 - - JLNS-1 Jervell and Lange-Nielsen Syndrome KCNQ1 KCNQ1 1 1 Johan den Dunnen
00147506 10737999-? PubMed: Wei 2000 data from Inherited Arrhythmias web site - - - - - 0 - - JLNS-1 Jervell and Lange-Nielsen Syndrome KCNQ1 KCNQ1 1 1 Johan den Dunnen
00147553 10973849-? PubMed: Splawski 2000 data from Inherited Arrhythmias web site - - - - - 0 - - JLNS-1 Jervell and Lange-Nielsen Syndrome KCNQ1 KCNQ1 1 1 Johan den Dunnen
00147554 10704188-? PubMed: Tranebjaerg 1999 data from Inherited Arrhythmias web site - - - - - 0 - - JLNS-1 Jervell and Lange-Nielsen Syndrome KCNQ1 KCNQ1 1 1 Johan den Dunnen
00147563 9020846-? PubMed: Neyroud 1997 2 families, 3 affecteds - yes Algeria Kabylia - 0 - - JLNS-1 Jervell and Lange-Nielsen Syndrome KCNQ1 KCNQ1 1 3 Johan den Dunnen
00147607 11530100-? PubMed: Huang 2001 data from Inherited Arrhythmias web site - - - - - 0 - - JLNS-1 Jervell and Lange-Nielsen Syndrome KCNQ1 KCNQ1 1 1 Johan den Dunnen
00147615 10024302-? PubMed: Neyroud 1999 data from Inherited Arrhythmias web site - - - - - 0 - - JLNS-1 Jervell and Lange-Nielsen Syndrome KCNQ1 KCNQ1 1 1 Johan den Dunnen
00165219 - - - F yes Iran - - 0 - - JLNS-1 - KCNQ1 KCNQ1 1 1 Samaneh Vojdani
00165231 - - - - - - - - 0 - - JLNS-1 hearing loss, long QT KCNQ1 - 0 1 Samaneh Vojdani
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