Disease: Minicore Myopathy With External Ophthalmoplegia

Name Minicore Myopathy With External Ophthalmoplegia

Synonyms MINICORE MYOPATHY , MULTICORE MYOPATHY , MULTIMINICORE DISEASE WITH EXTERNAL OPHTHALMOPLEGIA , MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

Classification genetic, neurological

Phenotypes Areflexia; Autosomal recessive inheritance; Axial muscle weakness; Decreased fetal movement; Difficulty running; Exercise-induced myalgia; External ophthalmoplegia; Facial palsy; Feeding difficulties in infancy; Generalized muscle weakness; High palate; Hydrops fetalis; Increased connective tissue; Increased variability in muscle fiber diameter; Joint laxity; Motor delay; Muscular dystrophy; Muscular hypotonia; Myopathic facies; Nemaline bodies; Neonatal hypotonia; Neonatal onset; Polyhydramnios; Proximal muscle weakness; Ptosis; Pulmonary hypoplasia; Recurrent respiratory infections; Respiratory insufficiency; Scoliosis; Skeletal muscle atrophy; Type 1 and type 2 muscle fiber minicore regions

Associated Genes RYR1 (Withdrawn symbols: CCO, MHS, MHS1, PPP1R137, RYR )

Mouse Orthologs Ryr1 (Withdrawn symbols: AI528790, Ryr )

Source OMIM:255320 (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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