| 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:0000722 | Obsessive-compulsive disorder | |
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| HP:0000739 | Anxiety | |
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| HP:0001260 | Dysarthria | "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators] |
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| HP:0001284 | Areflexia | |
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| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
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| HP:0001417 | X-linked inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [HPO:curators] |
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| HP:0001433 | Hepatosplenomegaly | |
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| HP:0001638 | Cardiomyopathy | |
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| HP:0001644 | Dilated cardiomyopathy | |
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| HP:0001927 | Red cell acanthocytosis | "Acanthocytosis refers to an abnormal morphiology of red-blood cells characterized by the presence of spikes on the cell surface. The cells have an irregular shaped resembling many-pointed stars." [HPO:curators] |
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| HP:0002197 | Generalized seizures | "Recurrent generalized `seizures` (HP:0001250), that is seizures that affect both cerebral hemispheres from the start of the seizure, producing loss of consciousness." [HPO:probinson] |
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| HP:0003201 | Rhabdomyolysis | |
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| HP:0003236 | Elevated serum creatine phosphokinase | |
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| HP:0005110 | Atrial fibrillation | |
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| HP:0012075 | Personality disorder | "An abnormality of mental functioning affecting the personality and behavioural tendencies of an individual and characterized by a rigid and unhealthy pattern of thinking and behavior. The definition of a personal disorder implies that the abnormality is not the result of damage or insult to the brain or from another psychiatric disorder." [HPO:probinson] |
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