- Astigmatism (HP:0000483): A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea. Evidence: PCS. Frequency: 0/3. (PMID:36351433)
- 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: 1/6. (PMID:36351433)
- Corneal opacity (HP:0007957): A reduction of corneal clarity. Evidence: PCS. Frequency: 0/3. (PMID:36351433)
- 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: 0/5. (PMID:36351433)
- Poor wound healing (HP:0001058): A reduced ability to heal cutaneous wounds. Evidence: PCS. Frequency: 0/4. (PMID:36351433)
- 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: PCS. Frequency: 3/6. (PMID:36351433)
- Duplicated collecting system (HP:0000081): A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice. Evidence: PCS. Frequency: 1/3. (PMID:36351433)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: PCS. Frequency: 0/3. (PMID:36351433)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 1/6. (PMID:36351433)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: PCS. Frequency: 2/6. (PMID:36351433)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 1/6. (PMID:36351433)
- Carotid artery tortuosity (HP:0005302): Abnormal tortuous (i.e., twisted) form of the carotid arteries. Evidence: PCS. Frequency: 3/3. (PMID:36351433)
- Contractures of the large joints (HP:0005781). Evidence: PCS. Frequency: 0/6. (PMID:36351433)
- Postductal coarctation of the aorta (HP:0011647): Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch. Evidence: PCS. Frequency: 1/1. (PMID:36351433)
- Bilateral fetal pyelectasis (HP:0011129): A bilateral form of fetal pyelectasis. Evidence: PCS. Frequency: 2/2. (PMID:36351433)
- Premature sagging cheeks (HP:0034273): Drooping or sinking of tissues of the cheeks more than would be expected at a given age. Sagging can occur due to a relative excess of skin and/or lack of elastic recoil as well as fat accumulation. Evidence: PCS. Frequency: 2/6. (PMID:36351433)
- Arthralgia (HP:0002829): Joint pain. Evidence: PCS. Frequency: 1/3. (PMID:36351433)
- Vertebral artery tortuosity (HP:0033981): Abnormal tortuous (i.e., twisted) form of the vertebral arteries. Evidence: PCS. Frequency: 1/1. (PMID:36351433)
- 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: 0/6. (PMID:36351433)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:36351433)
- 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: PCS. Frequency: 1/6. (PMID:36351433)
- 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: PCS. Frequency: 0/6. (PMID:36351433)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: PCS. Frequency: 4/6. (PMID:36351433)
- Arterial tortuosity (HP:0005116): Abnormal tortuous (i.e., twisted) form of arteries. Evidence: PCS. Frequency: 3/3. (PMID:36351433)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/6. (PMID:36351433)
- 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: 2/6. (PMID:36351433)
- Aged leonine appearance (HP:0008509). Evidence: PCS. Frequency: 0/6. (PMID:36351433)
- Blepharophimosis (HP:0000581): A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. Evidence: PCS. Frequency: 1/6. (PMID:36351433)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 0/4. (PMID:36351433)
- Retinal vascular tortuosity (HP:0012841): An increased number of twists and turns of the retinal blood vessels. This can affect either arteries, veins or both. Evidence: PCS. Frequency: 2/3. (PMID:36351433)
- Recurrent fractures (HP:0002757): The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). Evidence: PCS. Frequency: 4/6. (PMID:36351433)
- Bruising susceptibility (HP:0000978): An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. Evidence: PCS. Frequency: 0/4. (PMID:36351433)
- 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: PCS. Frequency: 4/6. (PMID:36351433)
- 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: PCS. Frequency: 3/5. (PMID:36351433)
- Soft skin (HP:0000977): Subjective impression of increased softness upon palpation of the skin. Evidence: PCS. Frequency: 3/5. (PMID:36351433)
- Clinodactyly (HP:0030084): An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). Evidence: PCS. Frequency: 0/6. (PMID:36351433)
- Broad nasal tip (HP:0000455): Increase in width of the nasal tip. Evidence: PCS. Frequency: 3/5. (PMID:36351433)
- Hyperextensible skin (HP:0000974): A condition in which the skin can be stretched beyond normal, and then returns to its initial position. Evidence: PCS. Frequency: 0/4. (PMID:36351433)
- Cutis laxa (HP:0000973): Wrinkled, redundant, inelastic and sagging skin. Evidence: PCS. Frequency: 3/6. (PMID:36351433)
- Arachnodactyly (HP:0001166): Abnormally long and slender fingers (spider fingers). Evidence: PCS. Frequency: 1/6. (PMID:36351433)
- 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: PCS. Frequency: 0/4. (PMID:36351433)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 0/6. (PMID:36351433)
- 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: PCS. Frequency: 1/1. (PMID:36351433)
- Bifid uvula (HP:0000193): Uvula separated into two parts most easily seen at the tip. Evidence: PCS. Frequency: 0/5. (PMID:36351433)
- Coronary artery aneurysm (HP:0030882): Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel. Evidence: PCS. Frequency: 1/1. (PMID:36351433)
- Blue sclerae (HP:0000592): An abnormal bluish coloration of the sclera. Evidence: PCS. Frequency: 3/5. (PMID:36351433)
- Emphysema (HP:0002097). Evidence: PCS. Frequency: 0/6. (PMID:36351433)
- Coarctation of aorta (HP:0001680): Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. Evidence: PCS. Frequency: 1/5. (PMID:36351433)
- Common origin of the right brachiocephalic artery and left common carotid artery (HP:0011589): The left common carotid artery has a common origin with the innominate artery. Evidence: PCS. Frequency: 1/6. (PMID:36351433)
- Pulmonary arterial hypertension (HP:0002092): Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. Evidence: PCS. Frequency: 0/6. (PMID:36351433)
- Premature skin wrinkling (HP:0100678): The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms. Evidence: PCS. Frequency: 0/5. (PMID:36351433)
- Telecanthus (HP:0000506): Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. Evidence: PCS. Frequency: 0/4. (PMID:36351433)
- Aortic tortuosity (HP:0006687): Abnormal tortuous (i.e., twisted) form of the aorta. Evidence: PCS. Frequency: 6/6. (PMID:36351433)
- Neonatal respiratory distress (HP:0002643): Respiratory difficulty as newborn. Evidence: PCS. Frequency: 3/6. (PMID:36351433)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 3/6. (PMID:36351433)
- 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: 2/5. (PMID:36351433)
- Lens subluxation (HP:0001132): Partial dislocation of the lens of the eye. Evidence: PCS. Frequency: 0/3. (PMID:36351433)
- Keratoconus (HP:0000563): A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex. Evidence: PCS. Frequency: 0/4. (PMID:36351433)
- Dermal translucency (HP:0010648): An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility. Evidence: PCS. Frequency: 0/5. (PMID:36351433)
- Large joint hypermobility (HP:0430047): The capability that a large joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Large joints include shoulders, elbows, hips, knees, and ankles. Evidence: PCS. Frequency: 3/6. (PMID:36351433)
- 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: PCS. Frequency: 2/6. (PMID:36351433)
- Small joint hypermobility (HP:0430046): The capability that a small joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Small joints include metacarpophalangeal joints, proximal interphalangeal joints, nsecond to fifth metatarsophalangeal joints, and wrists. Evidence: PCS. Frequency: 2/6. (PMID:36351433)
- Joint dislocation (HP:0001373): Displacement or malalignment of joints. Evidence: PCS. Frequency: 0/6. (PMID:36351433)
- 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: 2/6. (PMID:36351433)
- Ataxia (HP:0001251): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: PCS. Frequency: 0/6. (PMID:36351433)
- Arterial dissection (HP:0005294): A separation (dissection) of the layers of an artery. Evidence: PCS. Frequency: 0/6. (PMID:36351433)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: PCS. Frequency: 0/5. (PMID:36351433)
- 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: PCS. Frequency: 3/6. (PMID:36351433)
- 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: PCS. Frequency: 0/4. (PMID:36351433)
- 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: PCS. Frequency: 0/6. (PMID:36351433)
- Aortic root aneurysm (HP:0002616): An abnormal localized widening (dilatation) of the aortic root. Evidence: PCS. Frequency: 4/6. (PMID:36351433)
- 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: PCS. Frequency: 0/4. (PMID:36351433)
- Retrognathia (HP:0000278): An abnormality in which the mandible is mislocalised posteriorly. Evidence: PCS. Frequency: 1/6. (PMID:36351433)
- 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: 0/4. (PMID:36351433)
- Renal artery stenosis (HP:0001920): The presence of stenosis of the renal artery. Evidence: PCS. Frequency: 0/6. (PMID:36351433)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: PCS. Frequency: 0/5. (PMID:36351433)
- Hypoplasia of the corpus callosum (HP:0002079): Underdevelopment of the corpus callosum. Evidence: PCS. Frequency: 1/4. (PMID:36351433)
- 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: PCS. Frequency: 0/4. (PMID:36351433)
- Wide nasal ridge (HP:0012811): Increased width of the nasal ridge. Evidence: PCS. Frequency: 3/5. (PMID:36351433)
- Dilatation of renal calices (HP:0100581): An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine. Evidence: PCS. Frequency: 1/3. (PMID:36351433)
- 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: PCS. Frequency: 0/6. (PMID:36351433)
- Cephalohematoma (HP:0012541): Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum. Evidence: PCS. Frequency: 3/6. (PMID:36351433)
- Third trimester onset (HP:0034197): This term refers to a phenotypic feature that was first observed prior to birth during the third trimester, which is defined as 28 weeks and zero days (28+0) of gestation and beyond. Evidence: PCS. Frequency: 1/6. (PMID:36351433)
- Second trimester onset (HP:0034198): This term refers to a phenotypic feature that was first observed prior to birth during the second trimester, which comprises the range of gestational ages from 14 0/7 weeks to 27 6/7 (inclusive). Evidence: PCS. Frequency: 1/6. (PMID:36351433)
- 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: 0/6. (PMID:36351433)
- Petechiae (HP:0000967): Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae. Evidence: PCS. Frequency: 1/1. (PMID:36351433)
- Aortic regurgitation (HP:0001659): An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle. Evidence: PCS. Frequency: 2/6. (PMID:36351433)
- Convex nasal ridge (HP:0000444): Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low. Evidence: PCS. Frequency: 3/5. (PMID:36351433)
- Spasticity (HP:0001257): A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. Evidence: PCS. Frequency: 0/6. (PMID:36351433)
- 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: 0/6. (PMID:36351433)
- Pneumothorax (HP:0002107): Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung. Evidence: PCS. Frequency: 0/6. (PMID:36351433)
- Thin skin (HP:0000963): Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. Evidence: PCS. Frequency: 2/5. (PMID:36351433)
- Multiple prenatal fractures (HP:0005855): The presence of bone fractures in the prenatal period that are diagnosed at birth or before. Evidence: PCS. Frequency: 1/1. (PMID:36351433)
- Retinal detachment (HP:0000541): Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Evidence: PCS. Frequency: 0/3. (PMID:36351433)
- Delayed closure of the anterior fontanelle (HP:0001476): A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life. Evidence: PCS. Frequency: 0/4. (PMID:36351433)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: PCS. Frequency: 1/6. (PMID:36351433)
- Antenatal onset (HP:0030674): Onset prior to birth. Evidence: PCS. Frequency: 2/6. (PMID:36351433)
- Prominent nasolabial fold (HP:0005272): Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure). Evidence: PCS. Frequency: 2/5. (PMID:36351433)
- 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: 0/2. (PMID:36351433)
- Increased arm span (HP:0012771): Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle). Evidence: PCS. Frequency: 2/4. (PMID:36351433)
- 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: 1/3. (PMID:36351433)
- Macular hypoplasia (HP:0001104): Underdevelopment of the macula lutea. Evidence: PCS. Frequency: 0/6. (PMID:36351433)
- Congenital diaphragmatic hernia (HP:0000776): The presence of a hernia of the diaphragm present at birth. Evidence: PCS. Frequency: 0/6. (PMID:36351433)
- Hyperreflexia (HP:0001347): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: PCS. Frequency: 0/5. (PMID:36351433)
- Long face (HP:0000276): Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective). Evidence: PCS. Frequency: 0/6. (PMID:36351433)
- Short fetal femur length (HP:0011428): A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637). Evidence: PCS. Frequency: 1/1. (PMID:36351433)
- Keratoglobus (HP:0001119): Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea. Evidence: PCS. Frequency: 0/4. (PMID:36351433)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 1/6. (PMID:36351433)
- Cardiomyopathy (HP:0001638): A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. Evidence: PCS. Frequency: 2/6. (PMID:36351433)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: PCS. Frequency: 2/6. (PMID:36351433)
- Synophrys (HP:0000664): Meeting of the medial eyebrows in the midline. Evidence: PCS. Frequency: 1/5. (PMID:36351433)
- 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: PCS. Frequency: 3/6. (PMID:36351433)
- 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: 1/6. (PMID:36351433)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: PCS. Frequency: 0/3. (PMID:36351433)
- 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: 0/6. (PMID:36351433)
These phenotypes are associated with the disease arterial tortuosity-bone fragility syndrome (OMIM:620908).