| 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:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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| HP:0000544 | External ophthalmoplegia | |
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| HP:0000602 | Ophthalmoplegia | |
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| HP:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
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| HP:0001270 | Motor retardation | |
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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:0001284 | Areflexia | |
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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:0001371 | Contractures | |
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| HP:0001374 | Congenital hip dislocation | |
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| HP:0001388 | Joint laxity | |
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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:0001561 | Polyhydramnios | |
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| HP:0001612 | Weak cry | |
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| HP:0001644 | Dilated cardiomyopathy | |
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| HP:0001649 | Tachycardia | "A rapid heartrate that exceeds the range of the normal resting heartrate for age." [HPO:curators] |
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| HP:0001763 | Pes planus | "A condition in which the arch of the foot is flat, with the entire sole of the foot being in near-complete contact with the ground." [HPO:curators] |
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| HP:0001789 | Hydrops fetalis | |
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| HP:0001945 | Fever | |
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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: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:0002063 | Rigidity | |
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| HP:0002089 | Pulmonary hypoplasia | |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002153 | Hyperkalemia | |
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| HP:0002205 | Recurrent respiratory infections | |
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| HP:0002615 | Hypotension | |
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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:0002751 | Kyphoscoliosis | |
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| HP:0002905 | Hyperphosphatemia | |
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| HP:0002913 | Myoglobinuria | |
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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:0003201 | Rhabdomyolysis | |
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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:0003256 | Abnormalities of the clotting factors | |
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| HP:0003324 | Generalized muscle weakness | "Generalized weakness or decreased strength of the muscles." [HPO:curators] |
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| HP:0003327 | Axial muscle weakness | "Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs)." [HPO:curators] |
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| HP:0003557 | Increased variability in muscle fiber size | "An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy." [HPO:curators] |
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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:0003577 | Onset at birth | |
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| HP:0003593 | Early onset | |
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| HP:0003623 | Onset in neonatal period | |
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| HP:0003677 | Slow progression | |
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| HP:0003680 | Nonprogressive disorder | |
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| HP:0003687 | Centralized nuclei | |
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| HP:0003701 | Proximal muscle weakness | "A lack of strength of the proximal muscles." [HPO:curators] |
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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: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:0003787 | Type 1 and type 2 muscle fibers with minicore regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria | |
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| HP:0003798 | Nemaline bodies | "Nemaline rods are abnormal bodies are abnormal that can occur in skeletal muscle fibers. THe rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces." [HPO:curators, pmid:11333380] |
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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:0005967 | Mixed respiratory and metabolic acidosis | |
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| HP:0008872 | Feeding problems in infancy | |
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| HP:0009025 | Increased connective tissue | "The presence of an abnormally increased amount of connective tissue." [HPO:curators] |
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| HP:0009046 | Difficulty walking, running, climbing stairs | |
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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: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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