| 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:0000194 | Open mouth | |
Show
|
| HP:0000212 | Gingival hyperplasia | |
Show
|
| HP:0000218 | High palate | "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428] |
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:0000290 | Abnormality of the forehead | |
Show
|
| HP:0000292 | Loss of facial adipose tissue | "Loss of normal subcutaneous fat tissue in the face." [HPO:curators] |
Show
|
| HP:0000298 | Mask-like facies | |
Show
|
| HP:0000322 | Short philtrum | |
Show
|
| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
Show
|
| HP:0000430 | Hypoplastic nasal alae | "Thinned, deficient, or excessively arched `ala nasi` (FMA:59519)." [pmid:19152422] |
Show
|
| HP:0000446 | Narrow nasal bridge | |
Show
|
| HP:0000496 | Abnormality of eye movement | "An abnormality in voluntary or involuntary eye movements or their control." [HPO:probinson] |
Show
|
| HP:0000520 | Proptosis | |
Show
|
| HP:0000586 | Shallow orbits | |
Show
|
| HP:0001090 | Large eyes | |
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:0001285 | Spastic tetraparesis | "Spastic weakness affecting all four limbs." [HPO:curators] |
Show
|
| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
Show
|
| HP:0001371 | Contractures | |
Show
|
| HP:0001508 | Failure to thrive | |
Show
|
| HP:0001561 | Polyhydramnios | |
Show
|
| HP:0002093 | Respiratory insufficiency | |
Show
|
| HP:0002094 | Dyspnea | |
Show
|
| HP:0002179 | Opisthotonus | |
Show
|
| HP:0002187 | Mental retardation, profound | "Severe mental retardation is defined as an intelligence quotient (IQ) below 20." [HPO:curators] |
Show
|
| HP:0002373 | Febrile seizures | "Febrile seizures are convulsions induced by a fever in infants or small children and are generally characterized by loss of consciousness and tonic-clonic movements. Most febrile seizures last a minute or two." [HPO:curators] |
Show
|
| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
Show
|
| HP:0002659 | Increased susceptibility to fractures | "An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture." [HPO:sdoelken] |
Show
|
| HP:0002705 | High, narrow palate | "The presence of a high and narrow palate." [HPO:curators] |
Show
|
| HP:0002781 | Upper airway obstruction | |
Show
|
| HP:0005274 | Prominent nasal tip | |
Show
|
| HP:0005328 | Progeroid facial appearance | |
Show
|
| HP:0006532 | Pneumonia, recurrent episodes | |
Show
|
| HP:0007485 | Absence of subcutaneous fat | |
Show
|
| HP:0008734 | Decreased testicular size | |
Show
|
| HP:0008897 | Growth retardation, progressive | |
Show
|
| HP:0009059 | Congenital generalized lipodystrophy | |
Show
|
| HP:0009064 | Generalized lipodystrophy | "Generalized degenerative changes of the fat tissue." [HPO:curators] |
Show
|
| HP:0009933 | Naris, narrow | "Slender, slit-like aperture of the `nostril` (FMA:59645)." [HPO:curators] |
Show
|
| HP:0010751 | Chin dimple | "A persistent midline depression of the skin over the fat pad of the chin." [pmid:19125436] |
Show
|
| HP:0010804 | Tented upper lip vermilion | "Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base." [pmid:19125428] |
Show
|
| HP:0010864 | Mental retardation, severe | "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [HPO:probinson] |
Show
|
| HP:0011344 | Severe global developmental delay | "A severe delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth] |
Show
|
| HP:0100678 | Wrinkled skin | |
Show
|
