Phenotypes associated with the disease Williams syndrome (OMIM:194050):
- Nephrocalcinosis (HP:0000121): Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. Evidence: PCS. Frequency: 10%. (PMID:20089974)
- Stroke (HP:0001297): Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. Evidence: PCS. Frequency: Very rare (HP:0040284). (PMID:20089974)
- 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: PCS. Frequency: Frequent (HP:0040282). (PMID:20089974)
- 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: PCS. Frequency: Frequent (HP:0040282). (PMID:20089974)
- Renal hypoplasia (HP:0000089): Hypoplasia of the kidney. Evidence: TAS. (OMIM:194050)
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: TAS. (OMIM:194050)
- 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: PCS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=williams)
- 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: PCS. Frequency: Frequent (HP:0040282). (PMID:20089974)
- Gait imbalance (HP:0002141). Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20089974)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. (OMIM:194050)
- Hypercalcemia (HP:0003072): The concentration of calcium in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 15%. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=williams)
- Obsessive-compulsive trait (HP:0008770): The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant. Evidence: TAS. (OMIM:194050)
- Hoarse voice (HP:0001609): Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. Evidence: PCS. Frequency: Frequent (HP:0040282). (ISBN-13:978-0721606156)
- Blue irides (HP:0000635): A markedly blue coloration of the iris. Evidence: PCS. Frequency: Frequent (HP:0040282). (ISBN-13:978-0721606156)
- Vocal cord paralysis (HP:0001605): A loss of the ability to move the vocal folds. Evidence: PCS. Frequency: Occasional (HP:0040283). (ISBN-13:978-0721606156)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20089974)
- Down-sloping shoulders (HP:0200021): Low set, steeply sloping shoulders. Evidence: PCS. Frequency: Frequent (HP:0040282). Onset: Adult onset (HP:0003581). (ISBN-13:978-0721606156)
- Large earlobe (HP:0009748): Increased volume of the earlobe, that is, abnormally prominent ear lobules. Evidence: PCS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=williams)
- 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: PCS. Frequency: 15/20. (PMID:20089974;OMIM:194050)
- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20089974)
- Rectal prolapse (HP:0002035): Protrusion of the rectal mucous membrane through the anus. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20089974)
- Coronary artery stenosis (HP:0005145): Abnormal narrowing of the coronary artery. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20089974)
- Hypercalciuria (HP:0002150). Evidence: PCS. Frequency: 30%. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=williams)
- Midface retrusion (HP:0011800): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: TAS. (OMIM:194050)
- Impaired visuospatial constructive cognition (HP:0010794): Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities). Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20089974)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20089974)
- Enuresis (HP:0000805): Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible. Evidence: TAS. (OMIM:194050)
- 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: PCS. Frequency: Occasional (HP:0040283). (ISBN-13:978-0721606156)
- Amblyopia (HP:0000646): Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Evidence: PCS. Frequency: Occasional (HP:0040283). (ISBN-13:978-0721606156)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20089974)
- Peripheral pulmonary artery stenosis (HP:0004969): Stenosis of a peripheral branch of the pulmonary artery. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20089974)
- 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: PCS. Frequency: Occasional (HP:0040283). (ISBN-13:978-0721606156)
- Pelvic kidney (HP:0000125): A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis. Evidence: TAS. (OMIM:194050)
- Autosomal dominant inheritance (HP:0000006): 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. Evidence: PCS. (PMID:20089974)
- Sudden death (HP:0001699): Rapid and unexpected death. Evidence: PCS. Frequency: Very rare (HP:0040284). (PMID:20089974)
- 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: PCS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=williams)
- Small nail (HP:0001792): A nail that is diminished in length and width, i.e., underdeveloped nail. Evidence: PCS. Frequency: Frequent (HP:0040282). (ISBN-13:978-0721606156)
- 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: PCS. Frequency: 10/20. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=williams;ISBN-13:978-0721606156)
- 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: PCS. Frequency: Frequent (HP:0040282). (ISBN-13:978-0721606156)
- Sleep disturbance (HP:0002360): An abnormal pattern in the quality, quantity, or characteristics of sleep. Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:20089974)
- Blepharophimosis (HP:0000581): A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. Evidence: PCS. Frequency: Frequent (HP:0040282). (ISBN-13:978-0721606156)
- Supravalvular aortic stenosis (HP:0004381): A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow. Evidence: PCS. Frequency: 75%. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=williams)
- Abnormal renal morphology (HP:0012210): Any structural anomaly of the kidney. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20089974)
- Anxiety (HP:0000739): Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. Evidence: PCS. Frequency: 80%. (PMID:20089974)
- Chronic constipation (HP:0012450): Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation. Evidence: TAS. (OMIM:194050)
- 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: PCS. Frequency: Frequent (HP:0040282). (ISBN-13:978-0721606156)
- Hallux valgus (HP:0001822): Lateral deviation of the great toe (i.e., in the direction of the little toe). Evidence: PCS. Frequency: Frequent (HP:0040282). (ISBN-13:978-0721606156)
- Short attention span (HP:0000736): Reduced attention span characterized by distractibility and impulsivity. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20089974)
- Soft skin (HP:0000977): Subjective impression of increased softness upon palpation of the skin. Evidence: PCS. Frequency: Frequent (HP:0040282). (ISBN-13:978-0721606156)
- Broad nasal tip (HP:0000455): Increase in width of the nasal tip. Evidence: PCS. Frequency: Frequent (HP:0040282). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=williams)
- Thick lower lip vermilion (HP:0000179): Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective). Evidence: PCS. Frequency: Frequent (HP:0040282). (ISBN-13:978-0721606156)
- Cutis laxa (HP:0000973): Wrinkled, redundant, inelastic and sagging skin. Evidence: PCS. Frequency: Frequent (HP:0040282). (ISBN-13:978-0721606156)
- 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. (OMIM:194050)
- Cerebellar hypoplasia (HP:0001321): Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time. Evidence: PCS. Frequency: 15%. (PMID:20089974)
- Open mouth (HP:0000194): A facial appearance characterized by a permanently or nearly permanently opened mouth. Evidence: PCS. Frequency: Frequent (HP:0040282). (ISBN-13:978-0721606156)
- Colonic diverticula (HP:0002253): The presence of multiple diverticula of the colon. Evidence: PCS. Frequency: 30%. Onset: Young adult onset (HP:0011462). (PMID:20089974)
- Hyperacusis (HP:0010780): Over-sensitivity to certain frequency ranges of sound. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20089974)
- Chiari type I malformation (HP:0007099): Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line). Evidence: PCS. Frequency: 10%. (PMID:20089974)
- Periorbital fullness (HP:0000629): Increase in periorbital soft tissue. Evidence: PCS. Frequency: Frequent (HP:0040282). (ISBN-13:978-0721606156)
- Attention deficit hyperactivity disorder (HP:0007018): Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20089974)
- Glucose intolerance (HP:0001952): Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM). Evidence: TAS. (OMIM:194050)
- 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: PCS. Frequency: Frequent (HP:0040282). Onset: Childhood onset (HP:0011463). (ISBN-13:978-0721606156)
- Myxomatous mitral valve degeneration (HP:0004764): Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view. Evidence: PCS. Frequency: 20%. (PMID:20089974)
- Failure to thrive in infancy (HP:0001531). Evidence: PCS. Frequency: 70%. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=williams)
- Flexion contracture (HP:0001371): A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20089974)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20089974)
- Phonophobia (HP:0002183): An abnormally heightened sensitivity to loud sounds. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20089974)
- Portal hypertension (HP:0001409): Increased pressure in the portal vein. Evidence: PCS. Frequency: Occasional (HP:0040283). (ISBN-13:978-0721606156)
- Bicuspid aortic valve (HP:0001647): The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps). Evidence: TAS. (OMIM:194050)
- Premature graying of hair (HP:0002216): Development of gray hair at a younger than normal age. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20089974)
- Pulmonic stenosis (HP:0001642): A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis). Evidence: PCS. Frequency: Frequent (HP:0040282). Onset: Infantile onset (HP:0003593). (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=williams)
- 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: PCS. Frequency: Frequent (HP:0040282). (PMID:20089974)
- Renal artery stenosis (HP:0001920): The presence of stenosis of the renal artery. Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:20089974)
- Radioulnar synostosis (HP:0002974): An abnormal osseous union (fusion) between the radius and the ulna. Evidence: PCS. Frequency: Occasional (HP:0040283). (ISBN-13:978-0721606156)
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20089974)
- Micropenis (HP:0000054): Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. Evidence: PCS. Frequency: Occasional (HP:0040283). (ISBN-13:978-0721606156)
- 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: PCS. Frequency: Frequent (HP:0040282). (PMID:20089974)
- Full cheeks (HP:0000293): Increased prominence or roundness of soft tissues between zygomata and mandible. Evidence: PCS. Frequency: Frequent (HP:0040282). Onset: Childhood onset (HP:0011463). (ISBN-13:978-0721606156)
- Microdontia (HP:0000691): Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20089974)
- Food intolerance (HP:0012537): A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction. Evidence: IEA. (OMIM:194050)
- Umbilical hernia (HP:0001537): Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. Evidence: PCS. Frequency: Occasional (HP:0040283). (ISBN-13:978-0721606156)
- Dental malocclusion (HP:0000689): Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20089974)
- Hypotelorism (HP:0000601): Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes). Evidence: PCS. Frequency: Occasional (HP:0040283). (ISBN-13:978-0721606156)
- Mitral regurgitation (HP:0001653): An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20089974)
- Retinal arteriolar tortuosity (HP:0001136): The presence of an increased number of twists and turns of the retinal arterioles. Evidence: PCS. Frequency: Occasional (HP:0040283). (ISBN-13:978-0721606156)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: PCS. Frequency: Occasional (HP:0040283). (ISBN-13:978-0721606156)
- Medial flaring of the eyebrow (HP:0010747): An abnormal distribution of eyebrow hair growth in the medial direction. Evidence: PCS. Frequency: Frequent (HP:0040282). (ISBN-13:978-0721606156)
- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: PCS. Frequency: 75%. Onset: Adult onset (HP:0003581). (PMID:20089974)
- Osteoporosis (HP:0000939): Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20089974)
- 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: PCS. Frequency: Occasional (HP:0040283). (PMID:20089974)
- Abnormality of refraction (HP:0000539): An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina. Evidence: PCS. Frequency: Occasional (HP:0040283). (ISBN-13:978-0721606156)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20089974)
- Bladder diverticulum (HP:0000015): Diverticulum (sac or pouch) in the wall of the urinary bladder. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20089974)
- Hyperreflexia (HP:0001347): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20089974)
- Malar flattening (HP:0000272): Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. Evidence: PCS. Frequency: Occasional (HP:0040283). (ISBN-13:978-0721606156)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: Frequent (HP:0040282). (ISBN-13:978-0721606156)
- Early onset of sexual maturation (HP:0100000): An early onset of puberty, in this case early does not refer to precocious. Evidence: PCS. Frequency: 50%. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=williams)
- Atypical behavior (HP:0000708): Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20089974)
- Urethral stenosis (HP:0008661): Abnormal narrowing of the urethra. Evidence: PCS. Frequency: Frequent (HP:0040282). (ISBN-13:978-0721606156)
- Celiac disease (HP:0002608): Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurrence of CD is seen as a feature of a number of other diseases. Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:20089974)
- Hypodontia (HP:0000668): The absence of five or less teeth from the normal series by a failure to develop. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20089974)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 50%. (PMID:20089974)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: PCS. Frequency: 10%. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=williams)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. (OMIM:194050)
- Atrial septal defect (HP:0001631): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:20089974)
- Mitral valve prolapse (HP:0001634): One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:20089974)
- Obesity (HP:0001513): Accumulation of substantial excess body fat. Evidence: PCS. Frequency: Frequent (HP:0040282). Onset: Adult onset (HP:0003581). (ISBN-13:978-0721606156)