| 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:0000348 | High forehead | "An abnormally increased height of the forehead." [HPO:curators] |
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| HP:0000490 | Deep set eyes | |
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| HP:0000544 | External ophthalmoplegia | |
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| HP:0000615 | Abnormality of the pupils | |
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| HP:0000616 | Miosis | |
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| HP:0000662 | Night blindness | |
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| HP:0000966 | Hypohidrosis | "Abnormally diminished capacity to sweat." [HPO:curators] |
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| HP:0000979 | Purpura | |
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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:0001371 | Contractures | |
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| HP:0001746 | Asplenia | "Absence (aplasia) of the spleen." [HPO:curators] |
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| HP:0001872 | Abnormality of thrombocytes | |
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| HP:0001873 | Thrombocytopenia | |
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| HP:0001890 | Autoimmune hemolytic anemia | |
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| HP:0001903 | Anemia | |
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| HP:0001928 | Abnormality of coagulation | |
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| HP:0001954 | Fever, episodic | "Periodic (episodic or recurrent) bouts of fever that do not have an infectious cause." [HPO:curators] |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002164 | Nail dysplasia | |
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| HP:0002167 | Neurological speech impairment | |
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| HP:0002359 | Frequent falls | |
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| HP:0002522 | Areflexia in lower limbs | |
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| HP:0002600 | Hyporeflexia of lower limbs | |
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| HP:0002716 | Lymphadenopathy | |
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| HP:0002718 | Recurrent bacterial infections | |
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| HP:0002719 | Recurrent infections | |
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| HP:0002721 | Immunodeficiency | |
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| HP:0003011 | Abnormality of musculature | "Abnormality originating in one or more muscles." [HPO:curators] |
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| HP:0003198 | Myopathy | |
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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:0003388 | Easy fatigability | |
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| HP:0003394 | Muscle cramps | |
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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:0003552 | Muscle stiffness | |
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| HP:0003554 | Type 2 muscle fiber atrophy | "Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy." [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:0003581 | Onset in adulthood | |
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| HP:0003677 | Slow progression | |
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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:0003828 | Variable expressivity | |
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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:0007126 | Proximal amyotrophy | "Amyotrophy (muscular atrophy) affecting the proximal musculature." [HPO:curators] |
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| HP:0007676 | Hypoplasia of the iris | |
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| HP:0008064 | Ichthyosiform abnormality of the skin | |
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| HP:0009005 | Weakness of the intrinsic hand muscles | |
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| HP:0009046 | Difficulty walking, running, climbing stairs | |
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| HP:0030200 | Fatiguable weakness of proximal limb muscles | "A type of weakness of a skeletal muscle of proximal part of a limb 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." [UK:rheller] |
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| HP:0100301 | Muscle fiber tubular inclusions | "Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities." [HPO:sdoelken, PMID:15113116] |
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