Disease #05911 (MFLS (syndrome, lipodystrophy, Marfan (MFLS)), OMIM:616914)

Official abbreviation MFLS
Name syndrome, lipodystrophy, Marfan (MFLS)
OMIM ID 616914
Human Phenotype Ontology Project (HPO) HPO
Inheritance AD
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene FBN1
Associated tissues -
Disease features -
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Individuals

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00372767 2018F158 PubMed: Zhao 2020 2-generation family, affected mother (adopted) and carrier daughter F ? China African 30y 0 - - MFLS HP:0002647, HP:0001065, HP:0001765, HP:0000098; 30y-deceased, acute aortic rupture (ECG pericardial effusion); hospitalized owing to sudden persistent abdominal pain, aggravated when lying down, relieved when sitting - FBN1 1 1 赵 枢泉
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