Phenotypes for disease #02178 (SPM (myopathy, scapuloperoneal, X-linked dominant (SPM)), OMIM:300695)

2 entries on 1 page. Showing entries 1 - 2.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000153637 7/8 wheelchair bound 35.9y (±4.0y), 1 walking with a cane 63y X-linked dominant scapuloperoneal myopathy SPM Familial - - 26y - WB FHL1 reduced Johan den Dunnen 00205460
0000153638 4/8 wheelchair bound 54.8y (±19y), 4 walking (33-74y) X-linked dominant scapuloperoneal myopathy SPM Familial - - 34y6m - WB FHL1 reduced Johan den Dunnen 00205461
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