| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000467 | Neck muscle weakness | |
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| HP:0001425 | Heterogeneous | |
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| HP:0001635 | Congestive heart failure | "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators] |
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| HP:0001657 | Prolonged QT interval on EKG | |
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| HP:0001670 | Asymmetric septal hypertrophy | |
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| HP:0001682 | Subaortic stenosis | "A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve." [HPO:curators] |
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| HP:0001688 | Sinus bradycardia | |
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| HP:0001695 | Cardiac arrest | |
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| HP:0001699 | Sudden death | |
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| HP:0001761 | Pes cavus | |
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| HP:0001939 | Metabolism abnormality | |
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| HP:0003236 | Elevated serum creatine phosphokinase | |
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| HP:0003326 | Myalgia | "A tendency to experience muscle pain." [HPO:curators] |
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| HP:0003391 | Gower sign | "A phenomen whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs." [HPO:probinson] |
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| HP:0003394 | Muscle cramps | |
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| HP:0003457 | Abnormal EMG findings | "Abnormal results of investigations using electromyography (EMG)." [HPO:curators] |
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| HP:0003559 | Muscle hyperirritability | |
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| HP:0003560 | Muscular dystrophy | "The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the apoptosis of muscle cells." [HPO:curators] |
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| HP:0003581 | Onset in adulthood | |
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| HP:0003710 | Muscle cramps with exercise | |
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| HP:0003712 | Muscle hypertrophy | "Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells)." [HPO:curators] |
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| HP:0003719 | Muscle mounding | |
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| HP:0003738 | Exercise-induced myalgia | "The occurrence of an unusually high amount of muscle pain following exercise." [HPO:curators] |
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| HP:0003760 | Percussion-induced rapid rolling muscle contractions (PIRC) | |
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| HP:0004308 | Ventricular arrhythmia | |
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| HP:0008967 | Exercise-induced muscle stiffness | |
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| HP:0008981 | Muscular hypertrophy, esp calf muscles | "Muscle hypertrophy primarily affecting the calf muscles." [HPO:curators] |
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| HP:0011463 | Childhood onset | "Onset of disease at the age of between 1 and 5 years." [DDD:hfirth] |
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| HP:0011675 | Arrhythmia | "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792] |
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