Create issue ticket

66 Possible Causes for No Cardiomyopathy, Persistent Notochordal Canal

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2J

    Disease Type of connection Familial isolated dilated cardiomyopathy Autosomal recessive centronuclear myopathy Early-onset myopathy with fatal cardiomyopathy Familial isolated[csbg.cnb.csic.es] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] LGMD1B patients often exhibit findings of both cardiomyopathy and dysrhythmia [ 7 ].[pubs.sciepub.com]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2R

    Cardiomyopathy Cardiovascular Cytoskeleton Intermediate Filaments Muscle ARVC Cardiomyopathy Desmin Heart Failure PALM Footnotes 1 Supported by German Ministry of Education[doi.org] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] LGMD1B patients often exhibit findings of both cardiomyopathy and dysrhythmia [ 7 ].[pubs.sciepub.com]

  • Alpha-B Crystallinopathy

    Secondary cardiomyopathies are those in which the cardiomyopathy is found in a systemic disease.[intechopen.com] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] […] muscular disorder characterized by adult onset of progressive muscle weakness affecting both the proximal and distal muscles and associated with respiratory insufficiency, cardiomyopathy[checkorphan.org]

  • Nemaline Myopathy

    The combination of nemaline myopathy and cardiomyopathy is rare, and this is the first reported case of dilated cardiomyopathy associated with childhood-onset nemaline myopathy[ncbi.nlm.nih.gov] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] The approach to determining an etiology for hypertrophic cardiomyopathy in an infant is reviewed.[ncbi.nlm.nih.gov]

  • Familial Recurrent Peripheral Facial Palsy

    GSD with severe cardiomyopathy due to glycogenin deficiency GSDXIII GTN GTPCH1-deficient dopa-responsive dystonia GTPCH1-deficient DRD GTPCH deficiency GTP cyclohydrolase[orpha.net] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] Glycogenosis with severe cardiomyopathy due to glycogenin deficiency Glycogen storage disease Glycogen storage disease due to acid maltase deficiency Glycogen storage disease[orpha.net]

  • Holt Oram Syndrome

    It is recommended that patients with the Holt-Oram Syndrome be considered for comprehensive cardiac evaluation to exclude non-compaction cardiomyopathy as this may have significant[ncbi.nlm.nih.gov] notochordal canal.[els.net] X-linked dilated cardiomyopathy: molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus.[books.google.com]

  • Scapuloperoneal Spinal Muscular Atrophy

    He fulfilled the clinical, functional and diagnostic criteria for dilated cardiomyopathy. There was also a moderate increase in pulmonary vascular resistance.[ncbi.nlm.nih.gov] notochordal canal syndrome Sacral agenesis syndrome Sacral meningocele-conotruncal heart defects syndrome Sacral regression syndrome SACRAL syndrome Sacrococcygeal teratoma[orpha.net] Probable SMA with cardiomyopathy was observed in a 12-year-old boy in a related family.[onlinelibrary.wiley.com]

  • X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome

    Food and Drug Administration granted Priority Review to Pfizer for its application to market tafamidis, its treatment for transthyretin amyloid cardiomyopathy (ATTR-CM), a[globalgenes.org] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] […] autosomal dominant Microcephaly brachydactyly kyphoscoliosis Microcephaly brain defect spasticity hypernatremia Microcephaly cardiac defect lung malsegmentation Microcephaly cardiomyopathy[thefullwiki.org]

  • X-linked Intellectual Disability-Retinitis Pigmentosa Syndrome

    Autism spectrum disorder - a genetic disease with modulating environmental and epigenetic factors Barth syndrome - a disease of impaired fatty-acid metabolism lipotoxic cardiomyopathy[sdbonline.org] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] cardiomyopathies remains to be defined.[aetna.com]

  • Distal Hereditary Motor Neuropathy Type 1

    TBX1 ) de D iGeorge-Syndrom, Velocardio-faciales Syndrom 2, Shprintzen-Syndrom, Takao-Syndrom, Sedlackova-Syndrom, Chromosom-22q11-Deletion-Syndrom [22q11.2, TBX1] D ilated Cardiomyopathy[gfhev.de] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] Neuropathies 4) Axonal Recessive Disorder Gene / Locus Associated features Hereditary tyrosinemia type 1 15q23-q25; FAH (Fumaryl- Acetoacetase) Hepatic and Renal disease, Cardiomyopathy[slideshare.net]

Further symptoms

Similar symptoms