| 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:0001226 | Acral ulceration and osteomyelitis leading to autoamputation of the digits | |
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| HP:0001258 | Spastic paraplegia | |
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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:0001760 | Abnormality of the feet | "An abnormality of the feet (foot deformity) is a disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, Congenital vertical talus (rocker bottom foot) & etc." [HPO:curators] |
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| HP:0001862 | Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) | |
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| HP:0001886 | Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) | |
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| HP:0002064 | Spastic gait | |
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| HP:0002143 | Abnormality of the spinal cord | "An abnormality of the spinal cord (myelon)." [HPO:curators] |
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| HP:0002169 | Clonus | |
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| HP:0002459 | Dysautonomia | |
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| HP:0002936 | Distal sensory impairment | |
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| HP:0003146 | Hypocholesterolemia | |
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| HP:0003390 | Sensory axonal neuropathy | "An axonal neuropathy of peripheral sensory nerves." [HPO:curators] |
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| HP:0003431 | Decreased motor nerve conduction velocity (NCV) | |
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| HP:0003477 | Axonal neuropathy | |
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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:0003563 | Hypobetalipoproteinemia | |
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| HP:0003593 | Early onset | |
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| HP:0003621 | Juvenile onset | |
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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:0006827 | MRI shows atrophy of the spinal cord | |
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| HP:0006984 | Distal sensory loss of all modalities | |
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| HP:0007020 | Progressive spastic paraplegia | |
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| HP:0007328 | Decreased pain sensation | "Reduced ability to perceive painful stimuli." [HPO:curators] |
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