| 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:0000219 | Thin upper lip | |
Show
|
| HP:0000232 | Everted lower lip | |
Show
|
| HP:0000233 | Thin vermillion border | |
Show
|
| HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
Show
|
| HP:0000319 | Flat philtrum | |
Show
|
| HP:0000343 | Long philtrum | |
Show
|
| HP:0000431 | Broad nasal bridge | "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators] |
Show
|
| HP:0000455 | Broad nasal tip | |
Show
|
| HP:0000713 | Agitation | |
Show
|
| HP:0000739 | Anxiety | |
Show
|
| HP:0000750 | Impaired language development | |
Show
|
| HP:0000767 | Pectus excavatum | "A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance." [HPO:curators] |
Show
|
| HP:0001249 | Mental retardation | |
Show
|
| HP:0001270 | Motor retardation | |
Show
|
| HP:0001511 | Intrauterine growth retardation | |
Show
|
| HP:0001547 | Abnormality of the morphology or size of the rib cage | |
Show
|
| HP:0001999 | Facial dysmorphism | |
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:0003577 | Onset at birth | |
Show
|
| HP:0004279 | Hypoplastic hand | |
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:0004325 | Decreased body weight | |
Show
|
| HP:0006610 | Wide intermamillary distance | |
Show
|
| HP:0009466 | Radial deviation of fingers | |
Show
|
| HP:0030084 | Clinodactyly | "An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe)." [pmid:16252026] |
Show
|
| HP:0030269 | Increased serum insulin-like growth factor 1 {comment="HPO:probinson"} | "An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation." [pmid:18436706] |
Show
|
