| 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:0000716 | Depression | "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators] |
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| HP:0000737 | Irritability | |
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| HP:0000738 | Hallucinations | |
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| HP:0000739 | Anxiety | |
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| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| HP:0000952 | Jaundice | "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators] |
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| HP:0000963 | Thin skin | |
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| HP:0000992 | Photosensitivity | "An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin." [HPO:curators] |
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| HP:0000998 | Hypertrichosis | "Hypertrichosis is increased hair growth that is abnormal in quantity or location." [HPO:curators] |
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| HP:0001034 | Hyperpigmented macules | |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| HP:0001289 | Confusion | "Lack of clarity and coherence of thought, perception, understanding, or action." [HPO:curators] |
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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:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001939 | Metabolism abnormality | |
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| HP:0002013 | Vomiting | |
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| HP:0002014 | Diarrhea | |
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| HP:0002017 | Nausea and vomiting | |
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| HP:0002019 | Constipation | |
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| HP:0002027 | Abdominal pain | |
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| HP:0002203 | Respiratory paralysis | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002367 | Visual hallucinations | |
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| HP:0002829 | Arthralgia | |
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| HP:0002902 | Hyponatremia | |
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| HP:0003326 | Myalgia | "A tendency to experience muscle pain." [HPO:curators] |
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| HP:0003489 | Acute episodes of neuropathic symptoms | |
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| HP:0003829 | Incomplete penetrance | |
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| HP:0004804 | congenital hemolytic anemia | |
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| HP:0008066 | Abnormal blistering of the skin | |
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| HP:0008765 | Auditory hallucinations | |
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| HP:0009830 | Peripheral neuropathy | "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [HPO:curators] |
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| HP:0011999 | Paranoia | "A persecutory delusion of supposed hostility of others." [HPO:probinson] |
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| HP:0100785 | Insomnia | |
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