| 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:0001257 | Spasticity | "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators] |
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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:0001317 | Abnormality of the cerebellum | |
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| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
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| HP:0002061 | Lower limb spasticity | |
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| HP:0002064 | Spastic gait | |
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| HP:0002169 | Clonus | |
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| HP:0002355 | Difficulty walking | |
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| HP:0002943 | Thoracic scoliosis | |
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| HP:0003202 | Amyotrophy | "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] |
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| HP:0003487 | Babinski sign | "Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract." [HPO:curators] |
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| HP:0003676 | Progressive disorder | |
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| HP:0006380 | Knee flexion deformities | |
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| HP:0006844 | Absent patellar reflexes | |
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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:0030051 | Tip-toe gait | "An abnormal gait pattern characterized by the failue of the heel to contact the floor at the onset of stance during gait." [pmid:24757457] |
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