| 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:0000233 | Thin vermillion border | |
Show
|
| HP:0000248 | Brachycephaly | "Brachycephaly refers to a short, wide head, which is often caused by premature closure of both coronal sutures." [HPO:curators] |
Show
|
| HP:0000276 | Long face | |
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:0000316 | Hypertelorism | |
Show
|
| HP:0000324 | Facial asymmetry | |
Show
|
| HP:0000341 | Narrow forehead | "An abnormally reduced side-to-side width of the forehead." [HPO:curators] |
Show
|
| HP:0000343 | Long philtrum | |
Show
|
| HP:0000470 | Short neck | |
Show
|
| HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
Show
|
| HP:0000520 | Proptosis | |
Show
|
| HP:0000540 | Hypermetropia | |
Show
|
| HP:0000545 | Myopia | |
Show
|
| HP:0000574 | Thick eyebrows | |
Show
|
| HP:0000648 | Optic atrophy | |
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:0000954 | Transverse palmar creases | "The presence of a single palmar crease (instead of the two palmar creases that are typically present)." [HPO:curators] |
Show
|
| HP:0000973 | Cutis laxa | |
Show
|
| HP:0001156 | Brachydactyly | |
Show
|
| HP:0001159 | Syndactyly | "Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
Show
|
| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
Show
|
| HP:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
Show
|
| HP:0001254 | Lethargy | |
Show
|
| HP:0001638 | Cardiomyopathy | |
Show
|
| HP:0001852 | Gap between first and second toes | "The presence of a larger than normal gap between the first and second toes related to medial displacement of the first toe." [HPO:curators] |
Show
|
| HP:0001943 | Hypoglycemia | "A lower than normal level of blood glucose." [HPO:curators] |
Show
|
| HP:0001987 | Hyperammonemia | |
Show
|
| HP:0002013 | Vomiting | |
Show
|
| HP:0002057 | Prominent glabella | |
Show
|
| HP:0002213 | Fine hair | |
Show
|
| HP:0002480 | Hepatic encephalopathy | |
Show
|
| HP:0002750 | Delayed skeletal maturation | "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
Show
|
| HP:0002910 | Elevated transaminases | "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators] |
Show
|
| HP:0002983 | Micromelia | |
Show
|
| HP:0003256 | Abnormalities of the clotting factors | |
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
|
| HP:0006554 | Acute hepatic failure | "Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver." [HPO:curators] |
Show
|
| HP:0007663 | Decreased central vision | |
Show
|
| HP:0008897 | Growth retardation, progressive | |
Show
|
| HP:0200068 | Nonprogressive visual loss | |
Show
|
