| 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:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| HP:0000982 | Palmoplantar keratoderma | |
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| HP:0001271 | Polyneuropathy | "A generalized disorder of peripheral nerves." [HPO:curators] |
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| HP:0001638 | Cardiomyopathy | |
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| HP:0001644 | Dilated cardiomyopathy | |
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| HP:0001874 | Abnormality of neutrophil | |
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| HP:0002600 | Hyporeflexia of lower limbs | |
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| HP:0003198 | Myopathy | |
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| HP:0003236 | Elevated serum creatine phosphokinase | |
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| HP:0003323 | Muscle weakness, progressive | |
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| HP:0003445 | EMG shows neuropathic changes | |
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| HP:0003457 | Abnormal EMG findings | "Abnormal results of investigations using electromyography (EMG)." [HPO:curators] |
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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: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:0003584 | Late onset | |
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| HP:0003715 | Muscle biopsy shows myofibrillar myopathy | |
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| HP:0003736 | Autophagic vacuoles | |
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| HP:0009063 | Muscle weakness, distal, progressive | "Progressively reduced strength of the distal musculature." [HPO:curators] |
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| HP:0009073 | Muscle weakness, progressive, proximal | "Lack of strength of the proximal muscles that becomes progressively more severe." [HPO:curators] |
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| HP:0100578 | Lipoatrophy | "Localized loss of fat tissue." [HPO:sdoelken] |
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