- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Situs inversus totalis (HP:0001696): A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Cardiac arrest (HP:0001695): An abrupt loss of heart function. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Recurrent lower respiratory tract infections (HP:0002783): An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- 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: 1/6. (PMID:31595528)
- 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: PCS. Frequency: 2/6. (PMID:31595528)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 2/6. (PMID:31595528)
- 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: 1/1. (PMID:34177428)
- Hypoalbuminemia (HP:0003073): The concentration of albumin in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 5/6. (PMID:31595528)
- Primum atrial septal defect (HP:0010445): An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum. Evidence: PCS. Frequency: 2/7. (PMID:34177428;PMID:31595528)
- Polydactyly (HP:0010442): A congenital anomaly characterized by the presence of supernumerary fingers or toes. Evidence: PCS. Frequency: 4/7. (PMID:34177428;PMID:31595528)
- Hyperechogenic kidneys (HP:0004719): An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal. Evidence: PCS. Frequency: 2/6. (PMID:31595528)
- Hydrocephalus (HP:0000238): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: PCS. Frequency: 2/7. (PMID:34177428;PMID:31595528)
- Diabetes insipidus (HP:0000873): A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus). Evidence: PCS. Frequency: 1/1. (PMID:34177428)
- Elevated circulating aspartate aminotransferase concentration (HP:0031956): The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 6/6. (PMID:31595528)
- Hypercholesterolemia (HP:0003124): An increased concentration of cholesterol in the blood. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Deeply set eye (HP:0000490): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: PCS. Frequency: 2/7. (PMID:34177428;PMID:31595528)
- Increased circulating lactate concentration (HP:0002151): Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35). Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Tracheal bronchus (HP:0033614): Aberrant or accessory bronchus supplying the upper lobe originating from the lateral wall of the trachea. The tracheal bronchus is more commonly right-sided, has a variable length and may be blind-ended. Two common types of tracheal bronchus are: supernumerary and displaced. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Postaxial polydactyly (HP:0100259): A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Generalized edema (HP:0007430): Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- 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:31595528)
- 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: 1/1. (PMID:34177428)
- Weak cry (HP:0001612). Evidence: PCS. Frequency: 1/1. (PMID:34177428)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Cholestasis (HP:0001396): Impairment of bile flow due to obstruction in bile ducts. Evidence: PCS. Frequency: 2/6. (PMID:31595528)
- 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: PCS. Frequency: 1/6. (PMID:31595528)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 4/6. (PMID:31595528)
- Dilatation of the renal pelvis (HP:0010946): The presence of dilatation of the renal pelvis. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- 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: 1/6. (PMID:31595528)
- Hepatic fibrosis (HP:0001395): The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Cirrhosis (HP:0001394): A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 6/6. (PMID:31595528)
- Elevated circulating alanine aminotransferase concentration (HP:0031964): An abnormally high concentration in the circulation of alanine aminotransferase (ALT). Evidence: PCS. Frequency: 5/6. (PMID:31595528)
- Dark urine (HP:0040319): An abnormal dark color of the urine. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Atrioventricular canal defect (HP:0006695): A defect of the atrioventricular septum of the heart. Evidence: PCS. Frequency: 1/1. (PMID:34177428)
- Fetal distress (HP:0025116): An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile. Evidence: PCS. Frequency: 1/1. (PMID:34177428)
- Metabolic acidosis (HP:0001942): Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Prolonged neonatal jaundice (HP:0006579): Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants. Evidence: PCS. Frequency: 2/6. (PMID:31595528)
- Aqueductal stenosis (HP:0002410): Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum. Evidence: PCS. Frequency: 1/1. (PMID:34177428)
- Lateral ventricle dilatation (HP:0006956). Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: PCS. Frequency: 3/7. (PMID:34177428;PMID:31595528)
- Everted lower lip vermilion (HP:0000232): An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Secundum atrial septal defect (HP:0001684): A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Asthma (HP:0002099): Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Inlet ventricular septal defect (HP:0011622): A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Cor triatriatum (HP:0010774): The presence of an additional membrane in the left or right cardiac atrium which results in the subdivision of the affected atrium (and thus in total three atria, whence the name). Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- 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: 1/6. (PMID:31595528)
- 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: PCS. Frequency: 1/1. (PMID:34177428)
- Syndactyly (HP:0001159): Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism". Evidence: PCS. Frequency: 2/7. (PMID:34177428;PMID:31595528)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: PCS. Frequency: 1/1. (PMID:34177428)
- Coloboma (HP:0000589): A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa. Evidence: PCS. Frequency: 0/1. (PMID:34177428)
- Dextrocardia (HP:0001651): The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- 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: 1/6. (PMID:31595528)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: PCS. Frequency: 5/6. (PMID:31595528)
- 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: 1/1. (PMID:34177428)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Unbalanced atrioventricular canal defect (HP:0011579): Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced). Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Portal hypertension (HP:0001409): Increased pressure in the portal vein. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Bile duct proliferation (HP:0001408): Proliferative changes of the bile ducts. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- 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: 1/6. (PMID:31595528)
- CNS hypomyelination (HP:0003429): Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Congenital hepatic fibrosis (HP:0002612): The presence of fibrosis of that part of the liver with congenital onset. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- 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: PCS. Frequency: 2/7. (PMID:34177428;PMID:31595528)
- Biliary cirrhosis (HP:0002613): Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Round face (HP:0000311): The facial appearance is more circular than usual as viewed from the front. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Jaundice (HP:0000952): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: PCS. Frequency: 7/7. (PMID:34177428;PMID:31595528)
- Ascites (HP:0001541): Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). Evidence: PCS. Frequency: 2/6. (PMID:31595528)
- 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: 1/1. (PMID:34177428)
- 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: 4/6. (PMID:31595528)
- Common atrium (HP:0011565): Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Elevated gamma-glutamyltransferase level (HP:0030948): Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues. Evidence: PCS. Frequency: 6/6. (PMID:31595528)
- Increased circulating ferritin concentration (HP:0003281): Increased concentration of ferritin in the blood circulation. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Vegetative state (HP:0031358): The absence of wakefulness and consciousness, but in contrast to a coma, there is involuntary opening of the eyes and movements such as teeth grinding, yawning, or thrashing of the extremities. Evidence: PCS. Frequency: 1/1. (PMID:34177428)
- Tricuspid regurgitation (HP:0005180): Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Conjugated hyperbilirubinemia (HP:0002908). Evidence: PCS. Frequency: 6/6. (PMID:31595528)
- Edema (HP:0000969): An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: PCS. Frequency: 0/1. (PMID:34177428)
- Left-to-right shunt (HP:0012382): Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right. Evidence: PCS. Frequency: 1/1. (PMID:34177428)
- Bidirectional shunt (HP:0012383): Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Hyperbilirubinemia (HP:0002904): An increased amount of bilirubin in the blood. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Right aortic arch (HP:0012020): Aorta descends on right instead of on the left. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Pulmonary artery dilatation (HP:0004927): An abnormal widening of the diameter of the pulmonary artery. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- 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: 1/6. (PMID:31595528)
- 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: 1/6. (PMID:31595528)
- Patent foramen ovale (HP:0001655): Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria. Evidence: PCS. Frequency: 2/6. (PMID:31595528)
- Stage 5 chronic kidney disease (HP:0003774): A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Anterior pituitary hypoplasia (HP:0010627): Underdevelopment of the anterior pituitary gland. Evidence: PCS. Frequency: 1/1. (PMID:34177428)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: PCS. Frequency: 2/6. (PMID:31595528)
- Medullary nephrocalcinosis (HP:0012408): The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney). Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Bronchial wall thickening (HP:0033542): Radiological appearance of increased density around the walls of a bronchus or large bronchiole. This feature is thought to be related to edema involving the bronchial wall as well as the peribronchial interstitial space. If the cross section of a bronchus is captured in a radiograph or computed tomography image, it is said to have the appearance of a donut because of the central lucency representing the airway of the bronchus surrounded by a circular region of increased density. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Esophageal varix (HP:0002040): Extreme dilation of the submucusoal veins in the lower portion of the esophagus. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Intrahepatic bile duct dilatation (HP:0033149): Increased diameter (caliber) of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts). Evidence: PCS. Frequency: 1/1. (PMID:34177428)
- Broad first metatarsal (HP:0010068): Increased side-to-side width of the first metatarsal bone. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Widened cerebral subarachnoid space (HP:0012766): An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- 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: 1/6. (PMID:31595528)
- 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: 1/6. (PMID:31595528)
- Frontotemporal cerebral atrophy (HP:0006892): Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Protruding ear (HP:0000411): Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective). Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 4/6. (PMID:31595528)
- Knee dislocation (HP:0004976). Evidence: PCS. Frequency: 1/1. (PMID:34177428)
- 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: 1/6. (PMID:31595528)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 2/6. (PMID:31595528)
- Broad thumb (HP:0011304): Increased thumb width without increased dorso-ventral dimension. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Neonatal death (HP:0003811): Death within the first 28 days of life. Evidence: PCS. Frequency: 1/6. (PMID:31595528)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. Frequency: 1/1. (PMID:34177428)
- Elevated circulating creatinine concentration (HP:0003259): An increased amount of creatinine in the blood. Evidence: PCS. Frequency: 2/6. (PMID:31595528)
These phenotypes are associated with the disease biliary, renal, neurologic, and skeletal syndrome (OMIM:619534).