Disease #03282 (dystrophy, muscular, congenital, LMNA-related, OMIM:613205)

Official abbreviation -
Name dystrophy, muscular, congenital, LMNA-related
OMIM ID 613205
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 5
Phenotype entries for this disease 5
Associated with 1 gene LMNA
Associated tissues -
Disease features -
Remarks -


Individuals

5 entries on 1 page. Showing entries 1 - 5.
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00165019 34 van Tienen, submitted - F no Netherlands - >44y 0 - - dystrophy, muscular, congenital, LMNA-related Emery dreiffus muscular dystrophy LMNA LMNA 1 1 Florence van Tienen
00208524 - - - M no Viet Nam - 14y 0 - - dystrophy, muscular, congenital, LMNA-related muscular dystrophy; gross motor developmental delay; severe scoliosis, limb-girdle muscular dystrophy; White mater abnormality LAMA2 LAMA2 2 1 Kien Trung Tran
00269311 - - - F - Mexico - 24y 0 - - dystrophy, muscular, congenital, LMNA-related - ANO5, DYSF, GAA, SGCA, SGCB, SGCG SGCA 1 5 Valeria Guzman Olvera
00270545 107964 - - M ? ? (unknown) - - 0 - - dystrophy, muscular, congenital, LMNA-related HPOs: Muscular dystrophy SCN5A SCN5A 1 1 Andreas Laner
00320007 - - - M no Spain - - - - - dystrophy, muscular, congenital, LMNA-related Severe muscular dystrophy. Severe tetraparesis, head drooping with weakness in neck extensors and flexion contractures in MMII LMNA LMNA 1 1 Ana Pinel
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