| 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:0000135 | Hypogonadism | "Reduced function of the gonads (testes in males or ovaries in females)." [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:0000798 | Oligospermia | |
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| HP:0000819 | Diabetes mellitus | |
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| HP:0001649 | Tachycardia | "A rapid heartrate that exceeds the range of the normal resting heartrate for age." [HPO:curators] |
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| HP:0001962 | Palpitations | |
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| HP:0002292 | Frontal balding (male pattern baldness) | |
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| HP:0002486 | Myotonia | "Myotonia is characterized by an abnormally slow relaxation of the muscles after voluntary contraction or electrical stimulation. During physical examination, myotonia may be elicited by asking the patient to make a tight fist and then quickly open the hand." [HPO:curators] |
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| HP:0002850 | Decreased IgM | |
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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: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:0003701 | Proximal muscle weakness | "A lack of strength of the proximal muscles." [HPO:curators] |
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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:0004315 | Decreased IgG level | "An abnormally decreased level of immunoglobulin G in blood." [HPO:probinson] |
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| HP:0007889 | Cataracts, posterior, subcapsular, iridescent | |
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| HP:0008189 | Insulin insensitivity | |
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| HP:0008232 | Elevated follicle stimulating hormone | |
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