| 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:0000278 | Retrognathia | |
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| HP:0000298 | Mask-like facies | |
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| HP:0000467 | Neck muscle weakness | |
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| HP:0000473 | Torticollis | |
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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:0000767 | Pectus excavatum | "A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance." [HPO:curators] |
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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:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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| HP:0001265 | Hyporeflexia | |
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| HP:0001270 | Motor retardation | |
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| HP:0001276 | Hypertonia | |
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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:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [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:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [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:0001533 | Asthenic habitus | "Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones." [HPO:curators] |
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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:0001761 | Pes cavus | |
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| HP:0001771 | Achilles tendon contractures | |
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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:0002063 | Rigidity | |
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| HP:0002090 | Pneumonia | |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002205 | Recurrent respiratory infections | |
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| HP:0002359 | Frequent falls | |
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| HP:0002421 | Poor head control | |
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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: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:0002804 | Arthrogryposis multiplex congenita | |
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| HP:0002938 | Lumbar hyperlordosis | |
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| HP:0002987 | Elbow contractures | |
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| HP:0003089 | Hamstring contractures | |
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| HP:0003121 | Limb contractures | |
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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:0003273 | Hip contractures | |
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| HP:0003306 | Spinal rigidity | |
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| HP:0003307 | Hyperlordosis | |
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| HP:0003323 | Muscle weakness, progressive | |
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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: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:0003445 | EMG shows neuropathic changes | |
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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:0003551 | Difficulty climbing stairs | |
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| HP:0003555 | Muscle fiber splitting | "Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches." [pmid:6123177] |
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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:0003577 | Onset at birth | |
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| HP:0003677 | Slow progression | |
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| HP:0003687 | Centralized nuclei | |
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| HP:0003690 | Limb muscle weakness | "Weakness of the muscles of the arms and legs." [HPO:curators] |
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| HP:0003691 | Scapular winging | |
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| HP:0003701 | Proximal muscle weakness | "A lack of strength of the proximal muscles." [HPO:curators] |
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| HP:0003713 | Muscle fiber necrosis | "Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers." [HPO:curators] |
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| HP:0003715 | Muscle biopsy shows myofibrillar myopathy | |
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| HP:0003722 | Neck flexor weakness | "Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior)." [HPO:curators] |
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| HP:0003736 | Autophagic vacuoles | |
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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: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:0003805 | Rimmed vacuoles | |
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| HP:0003810 | Distal muscle weakness occurs later | |
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| HP:0003812 | Phenotypic variability | |
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| HP:0003828 | Variable expressivity | |
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| HP:0006785 | Limb-girdle muscular dystrophy | "Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders)." [HPO:curators] |
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| HP:0008180 | Mildly elevated creatine phosphokinase | |
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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:0009027 | Foot dorsiflexor weakness | |
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| HP:0009130 | Amyotrophy involving the musculature of the hand | "Muscular atrophy involving the muscles of the hand." [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: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:0012899 | Handgrip myotonia | "Difficulty releasing one s grip associated with prolonged first handgrip relaxation times." [pmid:22987687, UToronto:htrang] |
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| HP:0030878 | Abnormality on pulmonary function testing | "Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography." [HPO:probinson] |
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| HP:0031189 | Wrist drop | "A condition in which the affected individual cannot extend the wrist, which hangs flaccidly." [] |
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| HP:0031546 | Cardiac conduction abnormality | "Any anomaly of the progression of electrical impulses through the heart." [] |
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