Disease #02178 (SPM (myopathy, scapuloperoneal, X-linked dominant (SPM)), OMIM:300695)

Official abbreviation SPM
Name myopathy, scapuloperoneal, X-linked dominant (SPM)
OMIM ID 300695
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene FHL1
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Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00205460 - PubMed: Wilhelmesen 1996, FamC 4-generation family, 16 affecteds (8 male, 8 female) M - United States Italy - 0 - - SPM 7/8 wheelchair bound 35.9y (±4.0y), 1 walking with a cane 63y FHL1 FHL1 1 8 Johan den Dunnen
00205461 - PubMed: Wilhelmesen 1996, FamC 4-generation family, 16 affecteds (8 male, 8 female) F - United States Italy - 0 - - SPM 4/8 wheelchair bound 54.8y (±19y), 4 walking (33-74y) FHL1 FHL1 1 8 Johan den Dunnen
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