| 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:0000286 | Epicanthus | "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators] |
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| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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| HP:0000544 | External ophthalmoplegia | |
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| HP:0000597 | Ophthalmoparesis | "Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement." [HPO:curators] |
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| HP:0000602 | Ophthalmoplegia | |
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| HP:0000643 | Blepharospasm | "An involuntary recurrent spasm of both eyelids." [HPO:curators] |
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| HP:0000821 | Hypothyroidism | |
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| HP:0001249 | Mental retardation | |
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| HP:0001270 | Motor retardation | |
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| HP:0001276 | Hypertonia | |
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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:0001315 | Reduced reflexes | |
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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:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
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| HP:0001371 | Contractures | |
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| HP:0001376 | Decreased mobility of joints | |
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| HP:0001522 | Death in infancy | |
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| HP:0001608 | Abnormality of the voice | "Any abnormality of the voice." [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:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002047 | Malignant hyperthermia | "Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine." [HPO:curators] |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002094 | Dyspnea | |
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| HP:0002099 | Asthma | "Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing." [HPO:curators] |
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| HP:0002104 | Apnea | "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event." [HPO:curators] |
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| HP:0002153 | Hyperkalemia | |
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| HP:0002203 | Respiratory paralysis | |
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| HP:0002380 | Fasciculations | "Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units." [HPO:curators] |
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| HP:0002486 | Myotonia | "Myotonia is characterized by an abnormally slow relaxation of the muscles after voluntary contraction or electrical stimulation. During physical examination, myotonia may be elicited by asking the patient to make a tight fist and then quickly open the hand." [HPO:curators] |
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| HP:0002607 | Bowel incontinence | |
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| HP:0002900 | Hypokalemia | |
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| HP:0002902 | Hyponatremia | |
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| HP:0003198 | Myopathy | |
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| HP:0003202 | Amyotrophy | "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] |
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| HP:0003236 | Elevated serum creatine phosphokinase | |
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| HP:0003307 | Hyperlordosis | |
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| HP:0003326 | Myalgia | "A tendency to experience muscle pain." [HPO:curators] |
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| HP:0003388 | Easy fatigability | |
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| HP:0003394 | Muscle cramps | |
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| HP:0003401 | Paresthesia | "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:curators] |
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| HP:0003457 | Abnormal EMG findings | "Abnormal results of investigations using electromyography (EMG)." [HPO:curators] |
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| HP:0003473 | Mild-moderate fatigable weakness of limb muscles | |
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| HP:0003552 | Muscle stiffness | |
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| HP:0003593 | Early onset | |
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| HP:0003694 | Proximal muscle weakness occurs later | "Lack of strength of the proximal musculature occuring late in the clinical course." [HPO:curators] |
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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:0003720 | Generalized muscle hypertrophy | "Hypertrophy (increase in size) of muscle cells in a generalized (not localized) distribution." [HPO:curators] |
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| HP:0003752 | Flaccid weakness or paralysis, episodic attacks | |
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| HP:0003768 | Periodic paralysis | |
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| HP:0003812 | Phenotypic variability | |
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| HP:0003828 | Variable expressivity | |
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| HP:0003829 | Incomplete penetrance | |
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| HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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| HP:0005348 | Inspiratory stridor | "Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities." [HPO:curators] |
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| HP:0005949 | Apneic episodes in infancy | "Recurrent episodes of apnea occurring during infancy." [HPO:curators] |
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| HP:0007215 | Secondary hyperkalemic periodic paralysis | |
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| HP:0008153 | Periodic hypokalemic paresis | |
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| HP:0008180 | Mildly elevated creatine phosphokinase | |
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| HP:0008256 | Adrenocortical adenoma | "Adrenocortical adenomas are benign tumors of the adrenal cortex." [HPO:curators] |
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| HP:0008872 | Feeding problems in infancy | |
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| HP:0009020 | Exercise-induced muscle fatigue | "An abnormally increased tendency towards muscle fatigue induced by physical exercise." [HPO:curators] |
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| HP:0010307 | Stridor | "Stridor is a high pitched sound resulting from turbulent air flow in the upper airway." [HPO:curators] |
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| HP:0010548 | Percussion myotonia | "A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner s finger, a rubber percussion hammer, or a similar object)." [HPO:curators] |
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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:0011809 | Paradoxical myotonia | "A type of myotonia that worsens with repeated muscle contractions." [HPO:probinson, pmid:7678441] |
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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:0011998 | Postprandial hyperglycemia | "An `increased concentration` (PATO:0001162) of `glucose` (CHEBI:17234) in the `blood` (FMA:9670) following a meal." [HPO:probinson] |
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| HP:0012240 | Increased intramyocellular lipid droplets | "An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See pmid 20691590 for histological images." [HPO:probinson, pmid:20691590] |
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| HP:0012534 | Dysesthesia | "Abnormal sensations with no apparent physical cause that are painful or unpleasant." [ORCID:0000-0001-5208-3432] |
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| HP:0012726 | Episodic hypokalemia | "An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes." [HPO:probinson] |
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| HP:0012899 | Handgrip myotonia | "Difficulty releasing one s grip associated with prolonged first handgrip relaxation times." [pmid:22987687, UToronto:htrang] |
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| HP:0025425 | Laryngospasm | "A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe." [] |
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| HP:0030196 | Fatigable weakness of respiratory muscles | "A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [UNCL:mbertoli] |
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| HP:0100021 | Cerebral paralysis | "Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems." [HPO:sdoelken] |
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| HP:0100613 | Death in early adulthood | |
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| HP:0100748 | Muscular edema | |
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| HP:0100749 | Chest pain | |
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