- Micromelia (HP:0002983): The presence of abnormally small extremities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Short femur (HP:0003097): An abnormal shortening of the femur. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Spina bifida occulta (HP:0003298): The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Dysplastic aortic valve (HP:0005176): A congenital malformation of the aortic valve characterized by leaflet deformation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Capillary hemangioma (HP:0005306): The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Secondary microcephaly (HP:0005484): Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Atrioventricular canal defect (HP:0006695): A defect of the atrioventricular septum of the heart. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Bilateral microphthalmos (HP:0007633): A developmental anomaly characterized by abnormal smallness of both eyes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Short 5th finger (HP:0009237): Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Branchial cyst (HP:0009796): A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Short hallux (HP:0010109): Underdevelopment (hypoplasia) of the big toe. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Cleft maxillary alveolar ridge (HP:0010289): A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Long toe (HP:0010511): Toes that appear disproportionately long compared to the foot. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Echolalia (HP:0010529): Echolalia is the automatic imitative repetition of sounds, words, or phrases in the absence of explicit awareness. The repeated words or phrases are typically odd or used in a non-social manner. These can be words or phrases that the affected individual has heard or invented. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Skin tags (HP:0010609): Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Naevus flammeus of the eyelid (HP:0010733): Naevus flammeus localized in the skin of the eyelid. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Mesiodens (HP:0011067): A supernumerary tooth in the midline between the maxillary central incisors. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Prominent forehead (HP:0011220): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Hemifacial hypoplasia (HP:0011332): Unilateral underdevelopment of the facial tissues, including muscles and bones. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Infancy onset short-trunk short stature (HP:0011406): A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Ectopic posterior pituitary (HP:0011755): An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Hypoplastic aortic arch (HP:0012304): Underdevelopment of the arch of aorta. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Bilateral renal hypoplasia (HP:0012584): Two sided hypoplasia of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Tics (HP:0100033): Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppressible and are usually associated with awareness of an urge to perform the movement. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Long fingers (HP:0100807): The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Abnormal cricoid cartilage morphology (HP:3000038): Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:508488)
- Moderate intellectual disability (HP:0002342): Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:508488)
- Short stature (HP:0004322): 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). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:508488)
- Thin upper lip vermilion (HP:0000219): Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:508488)
- 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: Frequent (HP:0040282). (ORPHA:508488)
- Full cheeks (HP:0000293): Increased prominence or roundness of soft tissues between zygomata and mandible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:508488)
- Smooth philtrum (HP:0000319): Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:508488)
- Square face (HP:0000321): Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:508488)
- Long philtrum (HP:0000343): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:508488)
- 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: Frequent (HP:0040282). (ORPHA:508488)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:508488)
- Broad nasal tip (HP:0000455): Increase in width of the nasal tip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:508488)
- 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: Frequent (HP:0040282). (ORPHA:508488)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:508488)
- Autistic behavior (HP:0000729): Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:508488)
- Abnormality of the hand (HP:0001155): An abnormality affecting one or both hands. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:508488)
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:508488)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:508488)
- Abnormal heart morphology (HP:0001627): Any structural anomaly of the heart. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:508488)
- Expressive language delay (HP:0002474): A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:508488)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:508488)
- Short middle phalanx of the 5th finger (HP:0004220): Hypoplastic/small middle phalanx of the fifth finger. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:508488)
- Reduced visual acuity (HP:0007663). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:508488)
- Pes valgus (HP:0008081): An outward (valgus) deviation of the calcaneus relative to the longitudinal axis of the lower leg at the talocalcaneal (subtalar) joint, such that the heel is everted. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:508488)
- Feeding difficulties in infancy (HP:0008872): Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:508488)
- Asymmetry of the ears (HP:0010722): An asymmetriy, i.e., difference in size, shape or position between the left and right ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:508488)
- Nasogastric tube feeding in infancy (HP:0011470): Feeding problem necessitating nasogastric tube feeding. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:508488)
- Finger clinodactyly (HP:0040019). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:508488)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Vesicoureteral reflux (HP:0000076): Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Abnormality of the kidney (HP:0000077): An abnormality of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Unilateral renal agenesis (HP:0000122): A unilateral form of agenesis of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Pelvic kidney (HP:0000125): A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Oval face (HP:0000300): A face with a rounded and slightly elongated outline. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Microretrognathia (HP:0000308): A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Narrow forehead (HP:0000341): Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Retinal coloboma (HP:0000480): A notch or cleft of the retina or choroid, located vertically below the optic disc. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Deeply set eye (HP:0000490): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Long eyelashes (HP:0000527): Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Thick eyebrow (HP:0000574): Increased density/number and/or increased diameter of eyebrow hairs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Exotropia (HP:0000577): A form of strabismus with one or both eyes deviated outward. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- 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:508488)
- Optic nerve hypoplasia (HP:0000609): Underdevelopment of the optic nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Low frustration tolerance (HP:0000744): The feeling of frustration can be defined as an emotional reaction that occurs when a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration, characterized by crying or temper tantrums in children, or aggressive or other maladaptive behaviors. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Hyperactivity (HP:0000752): Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Narrow chest (HP:0000774): Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Reduced eye contact (HP:0000817): A reduced frequency or duration of eye contact. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Cervical ribs (HP:0000891). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Single transverse palmar crease (HP:0000954): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- 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: Occasional (HP:0040283). (ORPHA:508488)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Congenital hip dislocation (HP:0001374). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Hip dysplasia (HP:0001385): The presence of developmental dysplasia of the hip. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- 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: Occasional (HP:0040283). (ORPHA:508488)
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Patent ductus arteriosus (HP:0001643): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Truncus arteriosus (HP:0001660): A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Complete atrioventricular canal defect (HP:0001674): A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Coarctation of aorta (HP:0001680): Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Exocrine pancreatic insufficiency (HP:0001738): Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Pes planus (HP:0001763): A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Rocker bottom foot (HP:0001838): The presence of both a prominent heel and a convex contour of the sole. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Talipes (HP:0001883): A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- 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:508488)
- Hypoplasia of the corpus callosum (HP:0002079): Underdevelopment of the corpus callosum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Respiratory distress (HP:0002098): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Abnormal lung lobation (HP:0002101): A developmental defect in the formation of pulmonary lobes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Gastrointestinal hemorrhage (HP:0002239): Hemorrhage affecting the gastrointestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Global brain atrophy (HP:0002283): Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Highly arched eyebrow (HP:0002553): Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
- Thoracic scoliosis (HP:0002943). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:508488)
These phenotypes are associated with the disease 8q24.3 microdeletion syndrome (ORPHA:508488).