| 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:0000218 | High palate | "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428] |
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| HP:0000275 | Narrow face | |
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| HP:0000276 | Long face | |
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| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| HP:0000467 | Neck muscle weakness | |
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| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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| HP:0000602 | Ophthalmoplegia | |
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| HP:0000982 | Palmoplantar keratoderma | |
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| HP:0001283 | Bulbar palsy | "Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia." [HPO:curators] |
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| HP:0001288 | Gait disturbance | "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators] |
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| HP:0001319 | Neonatal hypotonia | "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators] |
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| HP:0001374 | Congenital hip dislocation | |
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| HP:0001425 | Heterogeneous | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001558 | Decreased fetal movement | "An abnormal reduction in quantity or strength of fetal movements." [HPO:curators] |
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| HP:0001612 | Weak cry | |
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| HP:0001622 | Premature birth | |
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| HP:0001626 | Abnormality of the cardiovascular system | "Any abnormality of the heart or vasculature." [HPO:curators] |
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| HP:0001631 | Atrial septal defect | "Atrial septal defect (ASD) is a congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The three common types of ASD are sinus venosus defects, ostium secundum defects, and ostium primum defects." [HPO:curators] |
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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:0001639 | Hypertrophic cardiomyopathy | |
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| HP:0001643 | Patent ductus arteriosus | |
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| HP:0001644 | Dilated cardiomyopathy | |
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| HP:0001645 | Sudden cardiac death | |
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| HP:0001647 | Bicuspid aortic valve | "The presence of a bicuspid `aortic valve` (FMA:7236)." [HPO:probinson] |
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| HP:0001670 | Asymmetric septal hypertrophy | |
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| HP:0001680 | Coarctation of aorta | "Coarctation of the aorta is a narrowing or constriction of the aorta just distal to the origin of the left subclavian artery." [HPO:curators] |
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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:0001699 | Sudden death | |
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| HP:0001761 | Pes cavus | |
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| HP:0001874 | Abnormality of neutrophil | |
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| HP:0001939 | Metabolism abnormality | |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002058 | Myopathic facies | "A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness." [HPO:curators] |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002460 | Distal muscle weakness | "Reduced strength of the distal musculature." [HPO:curators] |
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| HP:0002515 | Waddling gait | |
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| HP:0002637 | Cerebral ischemia | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
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| HP:0002792 | Reduced vital capacity | |
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| HP:0002938 | Lumbar hyperlordosis | |
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| HP:0003121 | Limb contractures | |
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| HP:0003198 | Myopathy | |
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| HP:0003200 | Ragged-red muscle fibers | "An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome (GT) staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged." [HPO:curators] |
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| HP:0003236 | Elevated serum creatine phosphokinase | |
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| HP:0003324 | Generalized muscle weakness | "Generalized weakness or decreased strength of the muscles." [HPO:curators] |
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| HP:0003326 | Myalgia | "A tendency to experience muscle pain." [HPO:curators] |
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| HP:0003445 | EMG shows neuropathic changes | |
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| HP:0003457 | Abnormal EMG findings | "Abnormal results of investigations using electromyography (EMG)." [HPO:curators] |
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| HP:0003458 | EMG myopathic abnormalities | "The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials." [HPO:curators] |
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| HP:0003577 | Onset at birth | |
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| HP:0003593 | Early onset | |
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| HP:0003674 | Age of onset | |
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| HP:0003677 | Slow progression | |
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| HP:0003687 | Centralized nuclei | |
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| HP:0003691 | Scapular winging | |
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| HP:0003697 | Scapuloperoneal atrophy | |
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| HP:0003701 | Proximal muscle weakness | "A lack of strength of the proximal muscles." [HPO:curators] |
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| HP:0003704 | Scapuloperoneal weakness | |
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| HP:0003707 | Calf muscle pseudohypertrophy | |
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| HP:0003755 | Type 1 fibers are at least 12% smaller than type 2 fibers | "The presence of abnormal muscle fiber size such that type 1 fibers are at least 12% smaller than type 2 fibers (in general, this feature can only be observed on muscle biopsy)." [HPO:curators] |
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| HP:0003803 | Type 1 muscle fiber predominance | "An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy)." [HPO:curators] |
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| HP:0003812 | Phenotypic variability | |
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| HP:0003828 | Variable expressivity | |
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| HP:0004306 | Abnormality of the endocardium | "An abnormality of the `endocardium` (FMA:7280)." [HPO:probinson] |
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| HP:0004308 | Ventricular arrhythmia | |
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| HP:0004420 | Arterial thrombosis | |
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| HP:0004971 | pulmonary artery hypoplasia | |
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| HP:0005110 | Atrial fibrillation | |
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| HP:0005180 | Tricuspid insufficiency | |
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| HP:0008180 | Mildly elevated creatine phosphokinase | |
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| HP:0009031 | Atrophy of ankle and toe extensor muscles | |
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| HP:0009054 | Scapuloperoneal myopathy | |
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| HP:0009055 | Generalized limb muscle atrophy | "Generalized atrophy affecting muscles of the limbs." [HPO:curators] |
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| HP:0009077 | Weakness of long finger extensor muscles | |
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| HP:0010316 | Ebstein s anomaly of the tricuspid valve | "Ebstein s anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet." [HPO:curators] |
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| HP:0010628 | Facial muscle weakness | "A weakness of any or all of the muscles of the face of any etiology." [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:0011575 | Imperforate tricuspid valve | "An tricuspid valve that has failed to open (atretic)." [DDD:dbrown] |
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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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| HP:0011712 | Right bundle branch block | "A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG." [DDD:dbrown, HPO:probinson] |
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| HP:0011916 | Toe extensor amyotrophy | "Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes." [HPO:probinson] |
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| HP:0011968 | Feeding difficulties | "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
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| HP:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
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| HP:0030319 | Weakness of facial musculature | "Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve)." [HPO:probinson] |
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| HP:0030682 | Left ventricular noncompaction | "Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer." [PMID:16670098, PMID:25443708] |
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| HP:0100578 | Lipoatrophy | "Localized loss of fat tissue." [HPO:sdoelken] |
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| HP:0100749 | Chest pain | |
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