Disease #01553 (EDMD2;LGMD1B (dystrophy, muscular, Emery-Dreifuss, type 2 (EDMD2;LGMD1B)), OMIM:181350)

Official abbreviation EDMD2;LGMD1B
Name dystrophy, muscular, Emery-Dreifuss, type 2 (EDMD2;LGMD1B)
OMIM ID 181350
Human Phenotype Ontology Project (HPO) HPO
Inheritance AD
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene LMNA
Associated tissues -
Disease features -
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Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00059233 - - - M ? Azerbaijan Azerbaijanis >43y 0 yes Cardiac conduction defect was treated by implantation of two-chambered PM EDMD2;LGMD1B cardiac conduction defect LMNA LMNA 1 2 Yulia Rogozhina
00181217 1 - - ? ? - - - 0 - - EDMD2;LGMD1B - LMNA LMNA 1 1 Florence van Tienen
00361988 - Sahin 2021, submitted - F no Turkey - - - - - EDMD2;LGMD1B Muscle weakness HP:0001324 - LMNA 1 1 Ibrahim Sahin
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