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:0000286 | Epicanthus | "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators] |
Show
|
HP:0000470 | Short neck | |
Show
|
HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
Show
|
HP:0000823 | Delayed puberty | |
Show
|
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] |
Show
|
HP:0001081 | Cholelithiasis | |
Show
|
HP:0001082 | Cholecystitis | |
Show
|
HP:0001249 | Mental retardation | |
Show
|
HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
Show
|
HP:0001895 | Normochromic anemia | |
Show
|
HP:0001897 | Normocytic anemia | |
Show
|
HP:0001930 | Nonspherocytic hemolytic anemia | |
Show
|
HP:0002162 | Low posterior hairline | |
Show
|
HP:0003198 | Myopathy | |
Show
|
HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
Show
|