HP:0000007 | Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct 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:0000722 | Obsessive-compulsive disorder | |
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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:0001265 | Hyporeflexia | |
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HP:0001268 | Mental deterioration | |
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HP:0001300 | Parkinsonism | |
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HP:0001761 | Pes cavus | |
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HP:0002063 | Rigidity | |
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HP:0002067 | Bradykinesia | "Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement)." [HPO:curators] |
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HP:0002180 | Neurodegeneration | |
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HP:0002313 | Spastic paraparesis | |
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HP:0002339 | Abnormality of the caudate nucleus | |
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HP:0002355 | Difficulty walking | |
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HP:0002376 | Developmental regression | |
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HP:0002454 | MRI shows decreased signal intensity in the pallidal nuclei with central hyperintensity ( eye of the tiger sign) | |
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HP:0002510 | Spastic tetraplegia | "Spastic paralysis affecting all four limbs." [HPO:curators] |
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HP:0003477 | Axonal neuropathy | |
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HP:0003676 | Progressive disorder | |
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HP:0003693 | Distal amyotrophy | "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators] |
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HP:0007002 | Sensory and motor axonal neuropathy | |
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HP:0010663 | Abnormality of the thalamus | "An abnormality of the `thalamus` (FMA:62007)." [HPO:probinson] |
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HP:0012048 | Oromandibular dystonia | "A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech." [HPO:probinson] |
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HP:0040083 | Toe walking | |
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HP:0100543 | Cognitive impairment | "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken] |
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