Disease: Scapuloperoneal Myopathy, X-Linked Dominant

Name Scapuloperoneal Myopathy, X-Linked Dominant


Classification genetic, neurological

Phenotypes Adult onset; Arrhythmia; Elevated serum creatine kinase; Flexion contracture; Foot dorsiflexor weakness; Hyporeflexia; Lower limb muscle weakness; Myofibrillar myopathy; Myopathy; Proximal muscle weakness; Scapular winging; Scapuloperoneal myopathy; Skeletal muscle atrophy; Steppage gait; Waddling gait; X-linked dominant inheritance

Associated Genes FHL1 (Withdrawn symbols: FHL1B, FLH1A, KYO-T, MGC111107, SLIM1, XMPMA, bA535K18.1 )

Mouse Orthologs Fhl1

Source OMIM:300695 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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