| 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:0000750 | Impaired language development | |
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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:0001270 | Motor retardation | |
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| HP:0001288 | Gait disturbance | "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators] |
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| HP:0001300 | Parkinsonism | |
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| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
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| HP:0001618 | Dysphonia | |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002062 | Abnormality of the pyramidal tracts | "An abnormality of the pyramidal system of motor neurons, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts." [HPO:curators] |
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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:0002174 | Postural tremor | "A type of tremors that is triggered by holding a limb in a fixed position." [HPO:curators] |
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| HP:0002451 | Limb dystonia | |
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| HP:0002544 | Retrocollis | |
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| HP:0003676 | Progressive disorder | |
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| HP:0004305 | Involuntary muscle contractions | |
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| HP:0007256 | Mild pyramidal signs | |
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| HP:0009763 | Limb pain | "Chronic pain in the limbs with no clear focal etiology." [HPO:curators] |
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| HP:0012049 | Laryngeal dystonia | "A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech." [HPO:probinson] |
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| HP:0012514 | Lower limb pain | "Pain in the leg with no clear focal etiology." [ORCID:0000-0001-5208-3432] |
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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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