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:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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HP:0003198 | Myopathy | |
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HP:0003236 | Elevated serum creatine phosphokinase | |
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HP:0003547 | Shoulder girdle muscle weakness | "The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders." [HPO:curators] |
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HP:0003581 | Onset in adulthood | |
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HP:0003677 | Slow progression | |
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HP:0003749 | Pelvic girdle muscle weakness | "Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis." [HPO:curators] |
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HP:0003805 | Rimmed vacuoles | |
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HP:0003829 | Incomplete penetrance | |
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HP:0006203 | Decreased movement range in interphalangeal joints | |
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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:0008116 | Flexion limitation of toes, progressive, permanent | |
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HP:0008948 | Proximal upper limb muscle atrophy | "Muscular atrophy affecting proximally located muscles of the arms." [HPO:curators] |
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HP:0008956 | Proximal lower limb muscle atrophy | "Muscular atrophy affecting proximally located muscles of the legs." [HPO:curators] |
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