Congenital generalized lipodystrophy type 2
Berardinelli-Seip syndrome 2

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Prevalence (%) of clinical parameters based on data from 2 references describing 36 individuals







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 Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Hepatomegaly digestive 100 % 12362029 2014-05-29
Lipodystrophy integumentary 100 % 12362029 2014-05-29
Muscle hypertrophy skeletal 100 % 12362029 2014-05-29
Hypertriglyceridemia circulatory 100 % 12362029 2014-05-29
Muscle weakness skeletal 100 % 30208912 2019-02-14
Mental retardation nervous 75 % 12362029 2014-05-29
Diabetes mellitus type 2 endocrine 46 % 12362029 2014-05-29
Hypertrophic cardiomyopathy skeletal 33 % 12362029 2014-05-29
Bone cysts skeletal 8 % 12362029 2014-05-29



List of references:


Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.
L Van Maldergem, J Magré, T E Khallouf, T Gedde-Dahl, M Delépine, O Trygstad, E Seemanova, T Stephenson, C S Albott, F Bonnici, V R Panz, J L Medina, P Bogalho, F Huet, S Savasta, A Verloes, J J Robert, H Loret, M De Kerdanet, N Tubiana-Rufi, A Mégarbané, J Maassen, M Polak, D Lacombe, C R Kahn, E L Silveira, F H D'Abronzo, F Grigorescu, M Lathrop, J Capeau, S O'Rahilly,



Journal of medical genetics - Oct 2002



Impairment of respiratory muscle strength in Berardinelli-Seip congenital lipodystrophy subjects.
Jorge Luiz Dantas de Medeiros, Bruno Carneiro Bezerra, Thiago Anderson Brito de Araújo, Aquiles Sales Craveiro Sarmento, Lázaro Batista de Azevedo Medeiros, Lucien Peroni Gualdi, Maria do Socorro Luna Cruz, Thaiza Teixeira Xavier Nobre, Josivan Gomes Lima, Julliane Tamara Araújo de Melo Campos,



Respiratory research - Sep 2018