| 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:0000160 | Microstomia | "The presence of an abnormally small `mouth` (FMA:49184)." [HPO:curators] |
Show
|
| HP:0000179 | Prominent lower lip | "Increased thickness of the lower lip, leading to a prominent appearance of the lower lip." [HPO:curators] |
Show
|
| HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
Show
|
| HP:0000276 | Long face | |
Show
|
| HP:0000307 | Pointed chin | |
Show
|
| HP:0000343 | Long philtrum | |
Show
|
| HP:0000414 | Bulbous nose | |
Show
|
| HP:0000445 | Broad nose | |
Show
|
| HP:0000463 | Nares, anteverted | "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422] |
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:0000490 | Deep set eyes | |
Show
|
| HP:0000718 | Aggressive behavior | "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators] |
Show
|
| HP:0000729 | Pervasive developmental disorder | |
Show
|
| HP:0000750 | Impaired language development | |
Show
|
| HP:0001256 | Mental retardation, mild | "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators] |
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:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
Show
|
| HP:0001310 | Dysmetria | |
Show
|
| HP:0001319 | Neonatal hypotonia | "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators] |
Show
|
| HP:0001321 | Cerebellar hypoplasia | |
Show
|
| HP:0001348 | Brisk reflexes | |
Show
|
| HP:0002003 | Large forehead | |
Show
|
| HP:0002019 | Constipation | |
Show
|
| HP:0002080 | Intention tremor | "An oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient s nose or a physician s finger)." [HPO:curators] |
Show
|
| HP:0002120 | Cerebral cortical atrophy | |
Show
|
| HP:0002317 | Unsteady gait | |
Show
|
| HP:0002354 | Memory impairment | |
Show
|
| HP:0002470 | Cerebellar ataxia, nonprogressive | |
Show
|
| HP:0002536 | Abnormal cortical gyration | "An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain." [HPO:curators] |
Show
|
| HP:0007256 | Mild pyramidal signs | |
Show
|
| HP:0011067 | Mesiodens | "The presence of a supernumerary tooth in the midline between the maxillary central incisors." [HPO:ibailleulforestier, pmid:18262485] |
Show
|
| HP:0012433 | Abnormal social behavior | "An abnormality of actions or reactions of a person taking place during interactions with others." [HPO:probinson] |
Show
|
| HP:0025191 | Segmental myoclonic seizures | |
Show
|
| HP:0025517 | Hypoplastic hippocampus | "Underdevelopment of the hippocampus." [] |
Show
|
| HP:0100540 | Palpebral edema | |
Show
|
| HP:0400005 | Short ear | "Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear." [eom:2cff5ac9b681fc73, pmid:19152421] |
Show
|
