- 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: 1/4. (PMID:33159882)
- Delayed CNS myelination (HP:0002188): Delayed myelination in the central nervous system. Evidence: PCS. Frequency: 1/4. (PMID:33159882)
- Unilateral renal agenesis (HP:0000122): A unilateral form of agenesis of the kidney. Evidence: PCS. Frequency: 2/4. (PMID:33159882)
- Anterior polar cataract (HP:0001134): A polar cataract that affects the anterior pole of the lens. Evidence: PCS. Frequency: 1/4. (PMID:33159882)
- 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: 2/4. (PMID:33159882)
- Hip contracture (HP:0003273): Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. Evidence: PCS. Frequency: 3/4. (PMID:33159882)
- Coarse facial features (HP:0000280): Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. Evidence: PCS. Frequency: 3/4. (PMID:33159882)
- 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: 1/4. (PMID:33159882)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: PCS. Frequency: 1/4. (PMID:33159882)
- Macroglossia (HP:0000158): Increased length and width of the tongue. Evidence: PCS. Frequency: 1/4. (PMID:33159882)
- Retrognathia (HP:0000278): An abnormality in which the mandible is mislocalised posteriorly. Evidence: PCS. Frequency: 1/4. (PMID:33159882)
- 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: 2/2. (PMID:33159882)
- 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: PCS. Frequency: 2/4. (PMID:33159882)
- Submucous cleft hard palate (HP:0000176): Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate. Evidence: PCS. Frequency: 1/4. (PMID:33159882)
- Bilateral renal agenesis (HP:0010958): A bilateral form of agenesis of the kidney. Evidence: PCS. Frequency: 1/4. (PMID:33159882)
- Hypoplasia of the corpus callosum (HP:0002079): Underdevelopment of the corpus callosum. Evidence: PCS. Frequency: 1/4. (PMID:33159882)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: PCS. Frequency: 2/3. (PMID:33159882)
- 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: 2/2. (PMID:33159882)
- 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: 1/1. (PMID:33159882)
- Short digit (HP:0011927): One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened. Evidence: PCS. Frequency: 2/4. (PMID:33159882)
- Thin lower lip vermilion (HP:0010282): Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective). Evidence: PCS. Frequency: 1/4. (PMID:33159882)
- Knee flexion contracture (HP:0006380): A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively. Evidence: PCS. Frequency: 2/4. (PMID:33159882)
- High anterior hairline (HP:0009890): Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella. Evidence: PCS. Frequency: 1/4. (PMID:33159882)
- 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: 1/3. (PMID:33159882)
- 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: 1/4. (PMID:33159882)
- 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:33159882)
- Hypoplasia of the iris (HP:0007676): Congenital underdevelopment of the iris. Evidence: PCS. Frequency: 1/4. (PMID:33159882)
- Elbow flexion contracture (HP:0002987): An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position. Evidence: PCS. Frequency: 3/4. (PMID:33159882)
- Prominent crus of helix (HP:0009899): The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix. Evidence: PCS. Frequency: 1/4. (PMID:33159882)
- 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: 3/4. (PMID:33159882)
- Hypertonia (HP:0001276): A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. Evidence: PCS. Frequency: 1/4. (PMID:33159882)
- 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: 2/4. (PMID:33159882)
- 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: 3/4. (PMID:33159882)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 4/4. (PMID:33159882)
- Deep philtrum (HP:0002002): Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border. Evidence: PCS. Frequency: 2/4. (PMID:33159882)
- Agenesis of corpus callosum (HP:0001274): 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: 1/4. (PMID:33159882)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 2/2. (PMID:33159882)
- Hypoplasia of the capital femoral epiphysis (HP:0003090): Underdevelopment of the proximal epiphysis of the femur. Evidence: PCS. Frequency: 2/4. (PMID:33159882)
- 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: PCS. Frequency: 1/4. (PMID:33159882)
- Disproportionate short-limb short stature (HP:0008873): A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. Evidence: PCS. Frequency: 1/4. (PMID:33159882)
- 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: 2/4. (PMID:33159882)
- Broad nasal tip (HP:0000455): Increase in width of the nasal tip. Evidence: PCS. Frequency: 2/4. (PMID:33159882)
- Supernumerary nipple (HP:0002558): Presence of more than two nipples. Evidence: PCS. Frequency: 1/4. (PMID:33159882)
- Capillary hemangioma (HP:0005306): The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces. Evidence: PCS. Frequency: 1/4. (PMID:33159882)
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: PCS. Frequency: 1/4. (PMID:33159882)
- Wide mouth (HP:0000154): Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). Evidence: PCS. Frequency: 3/4. (PMID:33159882)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 2/2. (PMID:33159882)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 2/4. (PMID:33159882)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: PCS. Frequency: 1/4. (PMID:33159882)
- Hydroureter (HP:0000072): The distention of the ureter with urine. Evidence: PCS. Frequency: 1/4. (PMID:33159882)
- Attached earlobe (HP:0009907): Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward. Evidence: PCS. Frequency: 1/4. (PMID:33159882)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: PCS. Frequency: 1/4. (PMID:33159882)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: PCS. Frequency: 2/4. (PMID:33159882)
- Posterior embryotoxon (HP:0000627): A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe. Evidence: PCS. Frequency: 1/4. (PMID:33159882)
- Infra-orbital fold (HP:0011232): Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge. Evidence: PCS. Frequency: 1/4. (PMID:33159882)
- Broad distal phalanx of the toes (HP:0010186): Increased width of the distal phalanx of toe of one or more toes. Evidence: PCS. Frequency: 2/4. (PMID:33159882)
- Periorbital fullness (HP:0000629): Increase in periorbital soft tissue. Evidence: PCS. Frequency: 1/4. (PMID:33159882)
- Pointed chin (HP:0000307): A marked tapering of the lower face to the chin. Evidence: PCS. Frequency: 1/4. (PMID:33159882)
- Broad distal phalanx of finger (HP:0009836): Abnormally wide (broad) distal phalanx of finger. Evidence: PCS. Frequency: 2/4. (PMID:33159882)
- Cryptorchidism (HP:0000028): 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: 1/2. (PMID:33159882)
These phenotypes are associated with the disease neurofacioskeletal syndrome with or without renal agenesis (OMIM:619194).