| 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] |
Show
|
| 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] |
Show
|
| HP:0000505 | Impaired vision | |
Show
|
| HP:0000548 | Cone-rod dystrophy | |
Show
|
| HP:0000551 | Abnormal color vision | |
Show
|
| HP:0000608 | Macular degeneration | |
Show
|
| 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] |
Show
|
| HP:0000662 | Night blindness | |
Show
|
| HP:0001171 | Ectrodactyly (hands) | |
Show
|
| HP:0001265 | Hyporeflexia | |
Show
|
| HP:0001761 | Pes cavus | |
Show
|
| HP:0001765 | Hammer toes | |
Show
|
| HP:0002460 | Distal muscle weakness | "Reduced strength of the distal musculature." [HPO:curators] |
Show
|
| HP:0003431 | Decreased motor nerve conduction velocity (NCV) | |
Show
|
| 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] |
Show
|
| HP:0003676 | Progressive disorder | |
Show
|
| HP:0003693 | Distal amyotrophy | "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators] |
Show
|
| HP:0007269 | Spinal muscular atrophy | "Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem." [HPO:curators] |
Show
|
| HP:0007401 | Primary noninflammatory macular atrophy | |
Show
|
| HP:0007703 | Abnormal retinal pigmentation | |
Show
|
| HP:0007924 | Slow decrease in visual acuity | |
Show
|
| HP:0009027 | Foot dorsiflexor weakness | |
Show
|
| HP:0011504 | Bull s eye maculopathy | "Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation." [DDD:gblack] |
Show
|
