| 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] |
Show
|
| 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] |
Show
|
| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
Show
|
| HP:0000467 | Neck muscle weakness | |
Show
|
| HP:0000982 | Palmoplantar keratoderma | |
Show
|
| 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] |
Show
|
| HP:0001639 | Hypertrophic cardiomyopathy | |
Show
|
| HP:0001644 | Dilated cardiomyopathy | |
Show
|
| HP:0001762 | Talipes equinovarus | "Also called clubfoot typically has 4 main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus." [HPO:curators] |
Show
|
| HP:0001874 | Abnormality of neutrophil | |
Show
|
| HP:0002014 | Diarrhea | |
Show
|
| HP:0002019 | Constipation | |
Show
|
| HP:0002460 | Distal muscle weakness | "Reduced strength of the distal musculature." [HPO:curators] |
Show
|
| HP:0002600 | Hyporeflexia of lower limbs | |
Show
|
| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
Show
|
| HP:0002987 | Elbow contractures | |
Show
|
| HP:0003198 | Myopathy | |
Show
|
| HP:0003236 | Elevated serum creatine phosphokinase | |
Show
|
| HP:0003457 | Abnormal EMG findings | "Abnormal results of investigations using electromyography (EMG)." [HPO:curators] |
Show
|
| HP:0003458 | EMG myopathic abnormalities | "The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials." [HPO:curators] |
Show
|
| 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] |
Show
|
| HP:0003676 | Progressive disorder | |
Show
|
| HP:0003691 | Scapular winging | |
Show
|
| HP:0003694 | Proximal muscle weakness occurs later | "Lack of strength of the proximal musculature occuring late in the clinical course." [HPO:curators] |
Show
|
| HP:0003704 | Scapuloperoneal weakness | |
Show
|
| HP:0003724 | Shoulder girdle muscle atrophy | "Amyotrophy affecting the muscles of the shoulder girdle." [HPO:curators] |
Show
|
| HP:0003812 | Phenotypic variability | |
Show
|
| HP:0005130 | Restrictive heart failure | |
Show
|
| HP:0006673 | Reduced systolic function | |
Show
|
| HP:0009027 | Foot dorsiflexor weakness | |
Show
|
| HP:0009049 | Peroneal muscle atrophy | "Atrophy of the peroneous muscles, `peroneus longus (also known as Fibularis longus) (FMA:22539), `Peroneus brevis (also known as fibularis brevis` (FMA:22540), and `Peroneus tertius (also known as fibularis tertius` (FMA:22538)." [HPO:probinson] |
Show
|
| HP:0010628 | Facial muscle weakness | "A weakness of any or all of the muscles of the face of any etiology." [HPO:curators] |
Show
|
| HP:0011663 | Arrhythmogenic right ventricular cardiomyopathy | "Arrhythmogenic right ventricular cardiomyopathy (ARVC) is defined histologically by the presence of progressive replacement of right ventricular myocardium with adipose and fibrous tissue often confined to a triangle of dysplasia comprising the right ventricular inflow, outflow, and apex. While these pathologic abnormalities can result in functional and morphological right ventricular abnormalities, they also occur in the left ventricle, producing a DCM phenotype, or can be present in the absence of clinically detectable structural changes in either ventricle. For the purposes of this classification, ARVC is defined by the presence of right ventricular dysfunction (global or regional), with or without left ventricular disease, in the presence of histological evidence for the disease and/or electrocardiographic abnormalities in accordance with published criteria." [pmid:17916581] |
Show
|
| 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] |
Show
|
| HP:0100578 | Lipoatrophy | "Localized loss of fat tissue." [HPO:sdoelken] |
Show
|
