| 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:0000211 | Trismus | "Limitation in the ability to open the mouth." [HPO:curators] |
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| HP:0000273 | Facial grimacing | |
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| HP:0000473 | Torticollis | |
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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:0001266 | Choreoathetosis | |
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| HP:0001387 | Joint stiffness | "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [HPO:curators] |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002063 | Rigidity | |
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| HP:0002094 | Dyspnea | |
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| HP:0002167 | Neurological speech impairment | |
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| HP:0002268 | Dystonia, paroxysmal | |
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| HP:0002411 | Myokymia | |
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| HP:0002487 | Hyperkinesis | |
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| HP:0003324 | Generalized muscle weakness | "Generalized weakness or decreased strength of the muscles." [HPO:curators] |
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| HP:0003593 | Early onset | |
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| HP:0007098 | Choreoathetosis, paroxysmal | |
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| HP:0007166 | Involuntary dystonic or choreiform movements | |
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| HP:0011463 | Childhood onset | "Onset of disease at the age of between 1 and 5 years." [DDD:hfirth] |
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| HP:0025401 | Staring gaze | "An abnormality in which the eyes are held permanently wide open." [PMID:22675666] |
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| HP:0100660 | Dyskinesis | "A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements." [HPO:sdoelken] |
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