- Strabismus (HP:0000486, a Human Phenotype Ontology term): 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: 4/7. (PMID:30692597;PMID:35227688)
- Unilateral renal agenesis (HP:0000122, a Human Phenotype Ontology term): A unilateral form of agenesis of the kidney. Evidence: PCS. Frequency: 4/8. (PMID:35227688)
- Dextrocardia (HP:0001651, a Human Phenotype Ontology term): 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: 1/7. (PMID:35227688)
- Stage 2 chronic kidney disease (HP:0012624, a Human Phenotype Ontology term): A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2). Evidence: PCS. Frequency: 3/8. (PMID:35227688)
- Thin corpus callosum (HP:0033725, a Human Phenotype Ontology term): An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration). Evidence: PCS. Frequency: 1/1. (PMID:30692597)
- Hypoplasia of the pons (HP:0012110, a Human Phenotype Ontology term): Underdevelopment of the pons. Evidence: PCS. Frequency: 1/1. (PMID:30692597)
- Subglottic stenosis (HP:0001607, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/7. (PMID:35227688)
- Hyperechogenic kidneys (HP:0004719, a Human Phenotype Ontology term): 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: 5/6. (PMID:35227688)
- Hydrocephalus (HP:0000238, a Human Phenotype Ontology term): 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: 3/11. (PMID:30692597;PMID:29194579;PMID:35227688)
- Postnatal growth retardation (HP:0008897, a Human Phenotype Ontology term): Slow or limited growth after birth. Evidence: PCS. Frequency: 3/7. (PMID:35227688)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): 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: 4/5. (PMID:35227688)
- Highly arched eyebrow (HP:0002553, a Human Phenotype Ontology term): Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape. Evidence: PCS. Frequency: 1/1. (PMID:30692597)
- Bilateral renal agenesis (HP:0010958, a Human Phenotype Ontology term): A bilateral form of agenesis of the kidney. Evidence: PCS. Frequency: 4/11. (PMID:29194579;PMID:35227688)
- Hypoplasia of the bladder (HP:0005343, a Human Phenotype Ontology term): Underdevelopment of the urinary bladder. Evidence: PCS. Frequency: 1/3. (PMID:29194579)
- Global developmental delay (HP:0001263, a Human Phenotype Ontology term): 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: 4/5. (PMID:35227688)
- Decreased circulating cortisol level (HP:0008163, a Human Phenotype Ontology term): Abnormally reduced concentration of cortisol in the blood. Evidence: PCS. Frequency: 1/1. (PMID:30692597)
- Conjugated hyperbilirubinemia (HP:0002908, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/1. (PMID:30692597)
- Second trimester onset (HP:0034198, a Human Phenotype Ontology term): 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: 2/3. (PMID:29194579)
- Sensorineural hearing impairment (HP:0000407, a Human Phenotype Ontology term): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: 1/1. (PMID:30692597)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:29194579)
- Partial agenesis of the corpus callosum (HP:0001338, a Human Phenotype Ontology term): A partial failure of the development of the corpus callosum. Evidence: PCS. Frequency: 1/7. (PMID:35227688)
- Bimanual synkinesia (HP:0001335, a Human Phenotype Ontology term): Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand. Evidence: PCS. Frequency: 1/7. (PMID:35227688)
- Broad philtrum (HP:0000289, a Human Phenotype Ontology term): Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum. Evidence: PCS. Frequency: 1/1. (PMID:30692597)
- Patent foramen ovale (HP:0001655, a Human Phenotype Ontology term): Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria. Evidence: PCS. Frequency: 1/7. (PMID:35227688)
- Stage 5 chronic kidney disease (HP:0003774, a Human Phenotype Ontology term): 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: 1/8. (PMID:35227688)
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/1. (PMID:30692597)
- Short hallux (HP:0010109, a Human Phenotype Ontology term): Underdevelopment (hypoplasia) of the big toe. Evidence: PCS. Frequency: 2/3. (PMID:29194579)
- Hypermetropia (HP:0000540, a Human Phenotype Ontology term): An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. Evidence: PCS. Frequency: 1/5. (PMID:35227688)
- Agenesis of corpus callosum (HP:0001274, a Human Phenotype Ontology term): Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. Evidence: PCS. Frequency: 2/10. (PMID:29194579;PMID:35227688)
- Ectopic posterior pituitary (HP:0011755, a Human Phenotype Ontology term): 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: PCS. Frequency: 1/1. (PMID:30692597)
- Tetralogy of Fallot with pulmonary stenosis (HP:0011679, a Human Phenotype Ontology term): The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus. Evidence: PCS. Frequency: 1/7. (PMID:35227688)
- Short 1st metacarpal (HP:0010034, a Human Phenotype Ontology term): A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand. Evidence: PCS. Frequency: 1/3. (PMID:29194579)
- Recurrent hypoglycemia (HP:0001988, a Human Phenotype Ontology term): Recurrent episodes of decreased concentration of glucose in the blood. Evidence: PCS. Frequency: 1/1. (PMID:30692597)
- Broad forehead (HP:0000337, a Human Phenotype Ontology term): Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. Evidence: PCS. Frequency: 1/1. (PMID:30692597)
- Ventriculomegaly (HP:0002119, a Human Phenotype Ontology term): An increase in size of the ventricular system of the brain. Evidence: PCS. Frequency: 2/10. (PMID:29194579;PMID:35227688)
- Mixed hearing impairment (HP:0000410, a Human Phenotype Ontology term): A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment. Evidence: PCS. Frequency: 1/7. (PMID:35227688)
- Anteriorly placed anus (HP:0001545, a Human Phenotype Ontology term): Anterior malposition of the anus. Evidence: PCS. Frequency: 2/3. (PMID:29194579)
- Iris atrophy (HP:0001089, a Human Phenotype Ontology term): Loss of iris tissue (atrophy). Evidence: PCS. Frequency: 1/5. (PMID:35227688)
- Aqueductal stenosis (HP:0002410, a Human Phenotype Ontology term): 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: 1/7. (PMID:35227688)
- Cerebellar vermis hypoplasia (HP:0001320, a Human Phenotype Ontology term): Underdevelopment of the vermis of cerebellum. Evidence: PCS. Frequency: 2/7. (PMID:35227688)
- Talipes equinovarus (HP:0001762, a Human Phenotype Ontology term): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: PCS. Frequency: 1/7. (PMID:35227688)
- Central hypothyroidism (HP:0011787, a Human Phenotype Ontology term): A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects. Evidence: PCS. Frequency: 1/1. (PMID:30692597)
- Anhydramnios (HP:0025700, a Human Phenotype Ontology term): A complete or near-complete lack of amniotic fluid surrounding a fetus. This finding can be observed sonographically in the third trimesters if the deepest pocket of amniotic fluid is less than or equal to 2 cm. Evidence: PCS. Frequency: 2/3. (PMID:29194579)
- Decreased circulating ACTH concentration (HP:0002920, a Human Phenotype Ontology term): The concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), is below the lower limit of normal in the blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:30692597)
- Polymicrogyria (HP:0002126, a Human Phenotype Ontology term): Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds). Evidence: PCS. Frequency: 1/3. (PMID:29194579)
- Intestinal malrotation (HP:0002566, a Human Phenotype Ontology term): An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis. Evidence: PCS. Frequency: 2/3. (PMID:29194579)
- Cryptorchidism (HP:0000028, a Human Phenotype Ontology term): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: PCS. Frequency: 1/1. (PMID:30692597)
- Micrognathia (HP:0000347, a Human Phenotype Ontology term): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 1/1. (PMID:30692597)
- Mitral valve prolapse (HP:0001634, a Human Phenotype Ontology term): 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: 1/7. (PMID:35227688)
These phenotypes are associated with the disease neurooculorenal syndrome (OMIM:620305, an entry in Online Mendelian Inheritance in Man).