| 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:0000027 | Azoospermia | |
Show
|
| HP:0000473 | Torticollis | |
Show
|
| HP:0000570 | Abnormality of saccadic eye movements | "An `abnormality of eye movement` (HP:0000496) characterized by impairment of fast (saccadic) eye movements." [HPO:probinson] |
Show
|
| HP:0000815 | Hypergonadotropic hypogonadism | "Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay." [HPO:curators] |
Show
|
| HP:0002080 | Intention tremor | "An oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient s nose or a physician s finger)." [HPO:curators] |
Show
|
| HP:0002346 | Head tremor | |
Show
|
| HP:0002352 | Leukoencephalopathy | |
Show
|
| HP:0002450 | Abnormality of the motor neurons | |
Show
|
| HP:0004409 | Hyposmia | "A decreased sensitivity to odorants (that is, a decreased ability to perceive odors)." [HPO:curators] |
Show
|
| 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] |
Show
|
| HP:0010663 | Abnormality of the thalamus | "An abnormality of the `thalamus` (FMA:62007)." [HPO:probinson] |
Show
|
