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:0000543 | Pale optic disks | |
Show
|
HP:0000648 | Optic atrophy | |
Show
|
HP:0000975 | Hyperhidrosis | "An abnormally increased perspiration." [HPO:probinson] |
Show
|
HP:0001258 | Spastic paraplegia | |
Show
|
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] |
Show
|
HP:0001265 | Hyporeflexia | |
Show
|
HP:0001270 | Motor retardation | |
Show
|
HP:0001371 | Contractures | |
Show
|
HP:0001761 | Pes cavus | |
Show
|
HP:0002267 | Exaggerated startle response | "An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face." [HPO:curators] |
Show
|
HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
Show
|
HP:0002808 | Kyphosis | |
Show
|
HP:0003390 | Sensory axonal neuropathy | "An axonal neuropathy of peripheral sensory nerves." [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:0007002 | Sensory and motor axonal neuropathy | |
Show
|
HP:0007054 | Hyperreflexia proximally | |
Show
|