Individual #00043875

ID_report -
Reference PubMed: Ramos 2016, Journal: Ramos 2016
Remarks -
Gender M
Consanguinity -
Country Puerto Rico
Population -
Age/Death >30y (later than 30 years)
VIP 0
Data_av -
Treatment no medication; no scoliosis surgery;
Panel size 1
Diseases BMD
Owner name Manuel F. Mas Rodriguez


Phenotypes

dystrophy, muscular, Becker type (BMD) (BMD)   Add phenotype for this disease

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Owner     
0000092743 confirmatory test DNA/muscle biopsy; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; no contractures (-HP:0001371); CK level 5970; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Isolated (sporadic) 30y - - - Manuel F. Mas Rodriguez



Screenings


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Owner     
0000063329 DNA ? - - DMD 0 Manuel F. Mas Rodriguez



Variants

Stop! No entries found!