- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:171929)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:171929)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:171929)
- Small for gestational age (HP:0001518): Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:171929)
- Abnormality of the genitourinary system (HP:0000119): The presence of any abnormality of the genitourinary system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:171929)
- Abnormal lip morphology (HP:0000159): An abnormality of the lip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:171929)
- Dolichocephaly (HP:0000268): An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:171929)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:171929)
- High forehead (HP:0000348): An abnormally increased height of the forehead. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:171929)
- Abnormality of the nose (HP:0000366): An abnormality of the nose. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:171929)
- Abnormality of the eye (HP:0000478): Any abnormality of the eye, including location, spacing, and intraocular abnormalities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:171929)
- Abnormality of the ear (HP:0000598): An abnormality of the ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:171929)
- Abnormality of the skeletal system (HP:0000924): An abnormality of the skeletal system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:171929)
- Abnormality of the hand (HP:0001155): An abnormality affecting one or both hands. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:171929)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:171929)
- Abnormal foot morphology (HP:0001760): An abnormality of the skeleton of foot. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:171929)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:171929)
- Prominent forehead (HP:0011220): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:171929)
- Abnormality of the kidney (HP:0000077): An abnormality of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Rectovaginal fistula (HP:0000143): The presence of a fistula between the vagina and the rectum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Orofacial cleft (HP:0000202): The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- High palate (HP:0000218): 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). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Thin vermilion border (HP:0000233): Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Retrognathia (HP:0000278): An abnormality in which the mandible is mislocalised posteriorly. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Epicanthus (HP:0000286): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Posteriorly rotated ears (HP:0000358): A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Macrotia (HP:0000400): Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Anteverted nares (HP:0000463): Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Upslanted palpebral fissure (HP:0000582): The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Dandy-Walker malformation (HP:0001305): A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Abnormal hip joint morphology (HP:0001384): An abnormality of the hip joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Abnormal heart morphology (HP:0001627): Any structural anomaly of the heart. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Short toe (HP:0001831): A toe that appears disproportionately short compared to the foot. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Gastroesophageal reflux (HP:0002020): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Poor suck (HP:0002033): An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Focal clonic seizure (HP:0002266): A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Incoordination (HP:0002311): A deficit in coordination of muscle movements. Coordination is defined as the orchestrated movement of multiple body parts as required to accomplish intended actions, like walking. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Hemivertebrae (HP:0002937): Absence of one half of the vertebral body. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Short nose (HP:0003196): Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Decreased muscle mass (HP:0003199). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Multiple renal cysts (HP:0005562): The presence of many cysts in the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Ulnar deviated club hands (HP:0006055). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Abnormal auditory evoked potentials (HP:0006958): An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Thumb contracture (HP:0009600): Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the thumb joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Simplified gyral pattern (HP:0009879): An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Wide cranial sutures (HP:0010537): An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- EEG with burst suppression (HP:0010851): The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Low voltage EEG (HP:0011181): EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- EEG with focal spikes (HP:0011193): EEG with focal sharp transient waves of a duration less than 80 msec. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Severe global developmental delay (HP:0011344): A severe delay in the achievement of motor or mental milestones in the domains of development of a child. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Primary microcephaly (HP:0011451): Head circumference below 2 standard deviations below the mean for age and gender at birth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Absent gallbladder (HP:0011467): A developmental defect in which the gallbladder fails to form. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Camptodactyly (HP:0012385): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Short palpebral fissure (HP:0012745): Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
- Periventricular white matter hypodensities (HP:0012794): Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171929)
These phenotypes are associated with the disease Trisomy 10p syndrome (ORPHA:171929).