| 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: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:0000543 | Pale optic disks | |
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| HP:0000613 | Photophobia | "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators] |
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| HP:0000662 | Night blindness | |
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| HP:0000952 | Jaundice | "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators] |
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| HP:0001081 | Cholelithiasis | |
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| HP:0001082 | Cholecystitis | |
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| HP:0001133 | Constricted visual fields | |
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| HP:0001155 | Abnormality of the hand | "An abnormality affecting one or both hands." [HPO:curators] |
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| HP:0001265 | Hyporeflexia | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [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:0001895 | Normochromic anemia | |
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| HP:0001897 | Normocytic anemia | |
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| HP:0001923 | Reticulocytosis | |
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| HP:0001930 | Nonspherocytic hemolytic anemia | |
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| HP:0001939 | Metabolism abnormality | |
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| HP:0002355 | Difficulty walking | |
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| HP:0002460 | Distal muscle weakness | "Reduced strength of the distal musculature." [HPO:curators] |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002904 | Hyperbilirubinemia | |
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| HP:0003387 | Loss of large myelinated fibers | |
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| HP:0003431 | Decreased motor nerve conduction velocity (NCV) | |
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| HP:0003450 | Axonal regeneration on nerve biopsy | |
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| HP:0003577 | Onset at birth | |
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| HP:0003676 | Progressive disorder | |
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| HP:0007182 | Hypomyelination on nerve biopsy | |
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| HP:0007401 | Primary noninflammatory macular atrophy | |
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| HP:0007663 | Decreased central vision | |
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| HP:0009830 | Peripheral neuropathy | "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [HPO:curators] |
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