- 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: 2/5. (PMID:32007091;PMID:37628605)
- Tubulointerstitial nephritis (HP:0001970): A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. Evidence: PCS. Frequency: 2/2. (PMID:32007091)
- Nevus flammeus (HP:0001052): A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin. Evidence: PCS. Frequency: 1/1. (PMID:37628605)
- Sagittal craniosynostosis (HP:0004442): A kind of craniosynostosis affecting the sagittal suture. Evidence: PCS. Frequency: 1/1. (PMID:37628605)
- Glycosuria (HP:0003076): An increased concentration of glucose in the urine. Evidence: PCS. Frequency: 1/1. (PMID:32007091)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 3/3. (PMID:37628605)
- Stage 3 chronic kidney disease (HP:0012625): A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2). Evidence: PCS. Frequency: 2/2. (PMID:37628605)
- Stage 4 chronic kidney disease (HP:0012626): A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2). Evidence: PCS. Frequency: 1/1. (PMID:37628605)
- Flattened epiphysis (HP:0003071): Abnormal flatness (decreased height) of epiphyses. Evidence: PCS. Frequency: 2/2. (PMID:32007091)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 4/5. (PMID:32007091;PMID:35873489;PMID:37628605)
- High hypermetropia (HP:0008499): A severe form of hypermetropia with over +5.00 diopters. Evidence: PCS. Frequency: 1/1. (PMID:32007091)
- Overlapping toe (HP:0001845): Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent. Evidence: PCS. Frequency: 1/2. (PMID:32007091)
- Rotary nystagmus (HP:0001583): A form of nystagmus in which the eyeball makes rotary motions around the axis. Evidence: PCS. Frequency: 0/1. (PMID:37628605)
- Absent speech (HP:0001344): Complete lack of development of speech and language abilities. Evidence: PCS. Frequency: 1/1. (PMID:35873489)
- Nephronophthisis (HP:0000090): Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. Evidence: PCS. Frequency: 0/1. (PMID:35873489)
- Cough (HP:0012735): A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. Evidence: PCS. Frequency: 1/1. (PMID:37628605)
- 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: PCS. Frequency: 1/1. (PMID:37628605)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: PCS. Frequency: 4/5. (PMID:32007091;PMID:37628605)
- Progressive visual loss (HP:0000529): A reduction of previously attained ability to see. Evidence: PCS. Frequency: 1/1. (PMID:35873489)
- 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: 2/3. (PMID:32007091;PMID:35873489)
- 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:32007091)
- Optic atrophy (HP:0000648): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: PCS. Frequency: 3/4. (PMID:35873489;PMID:37628605)
- 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: 3/3. (PMID:32007091;PMID:35873489)
- Broad ribs (HP:0000885): Increased width of ribs. Evidence: PCS. Frequency: 2/2. (PMID:32007091)
- Rhizomelia (HP:0008905): Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). Evidence: PCS. Frequency: 6/6. (PMID:32007091;PMID:35873489;PMID:37628605)
- 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: 2/2. (PMID:32007091)
- Generalized joint hypermobility (HP:0002761): Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. In individuals with Joint hypermobility at multiple sites (usually five or more), the term generalized joint hypermobility is preferred. Evidence: PCS. Frequency: 1/1. (PMID:37628605)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: PCS. Frequency: 5/5. (PMID:32007091;PMID:37628605)
- Hepatic fibrosis (HP:0001395): The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. Evidence: PCS. Frequency: 0/1. (PMID:35873489)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 0/1. (PMID:35873489)
- 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: 0/1. (PMID:35873489)
- Pigmentary retinopathy (HP:0000580): An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss. Evidence: PCS. Frequency: 2/3. (PMID:37628605)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 0/1. (PMID:32007091)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: PCS. Frequency: 2/3. (PMID:32007091;PMID:35873489)
- Blindness (HP:0000618): Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation. Evidence: PCS. Frequency: 1/1. (PMID:35873489)
- 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: 2/2. (PMID:32007091)
- 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: 0/1. (PMID:35873489)
- Nephropathy (HP:0000112): A nonspecific term referring to disease or damage of the kidneys. Evidence: PCS. Frequency: 1/1. (PMID:37628605)
- 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: 2/3. (PMID:32007091;PMID:35873489)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: PCS. Frequency: 1/1. (PMID:37628605)
- 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: 1/1. (PMID:35873489)
- Renal cyst (HP:0000107): A fluid filled sac in the kidney. Evidence: PCS. Frequency: 1/1. (PMID:35873489)
- High forehead (HP:0000348): An abnormally increased height of the forehead. Evidence: PCS. Frequency: 3/5. (PMID:32007091;PMID:35873489;PMID:37628605)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: PCS. Frequency: 4/6. (PMID:32007091;PMID:35873489;PMID:37628605)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 0/1. (PMID:35873489)
- Short nail (HP:0001799): Decreased length of nail. Evidence: PCS. Frequency: 3/3. (PMID:32007091;PMID:37628605)
- Horizontal pendular nystagmus (HP:0007811): Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity. Evidence: PCS. Frequency: 1/1. (PMID:37628605)
- Short toe (HP:0001831): A toe that appears disproportionately short compared to the foot. Evidence: PCS. Frequency: 1/1. (PMID:35873489)
- 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: 2/4. (PMID:35873489;PMID:37628605)
- Fibular hypoplasia (HP:0003038): Underdevelopment of the fibula. Evidence: PCS. Frequency: 2/2. (PMID:32007091)
- 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:32007091)
- Short finger (HP:0009381): Abnormally short finger associated with developmental hypoplasia. Evidence: PCS. Frequency: 1/1. (PMID:35873489)
- Renal cortical hyperechogenicity (HP:0033132): Increased echogenecity of the kidney cortex. Evidence: PCS. Frequency: 1/1. (PMID:32007091)
- 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: 1/2. (PMID:32007091)
- Prominent forehead (HP:0011220): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: PCS. Frequency: 1/1. (PMID:32007091)
- Delayed ability to sit (HP:0025336): A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age. Evidence: PCS. Frequency: 3/3. (PMID:35873489;PMID:37628605)
- 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: 1/2. (PMID:32007091;PMID:35873489)
- Simple ear (HP:0020206): The pinna has fewer folds and grooves than usual. Evidence: PCS. Frequency: 1/1. (PMID:35873489)
- Retinal dystrophy (HP:0000556): Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event. Evidence: PCS. Frequency: 1/1. (PMID:35873489)
- Full cheeks (HP:0000293): Increased prominence or roundness of soft tissues between zygomata and mandible. Evidence: PCS. Frequency: 3/4. (PMID:32007091;PMID:35873489;PMID:37628605)
- 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: 3/3. (PMID:32007091;PMID:35873489)
- Delayed ability to stand (HP:0025335): A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months. Evidence: PCS. Frequency: 1/1. (PMID:37628605)
- 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: 2/2. (PMID:32007091)
- 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: 1/2. (PMID:32007091)
- Hypoxemia (HP:0012418): An abnormally low level of blood oxygen. Evidence: PCS. Frequency: 1/1. (PMID:37628605)
- Thin nail (HP:0001816): Nail that appears thin when viewed on end. Evidence: PCS. Frequency: 2/2. (PMID:32007091)
- Protuberant abdomen (HP:0001538): A thrusting or bulging out of the abdomen. Evidence: PCS. Frequency: 2/2. (PMID:32007091)
- Widely spaced teeth (HP:0000687): Increased spaces (diastemata) between most of the teeth in the same dental arch. Evidence: PCS. Frequency: 1/1. (PMID:35873489)
- 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: 5/6. (PMID:32007091;PMID:35873489;PMID:37628605)
- Abnormal nail morphology (HP:0001597): Abnormal structure or appearance of the nail. Evidence: PCS. Frequency: 1/3. (PMID:35873489;PMID:37628605)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: PCS. Frequency: 0/1. (PMID:35873489)
- Hypermetropia (HP:0000540): An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. Evidence: PCS. Frequency: 2/2. (PMID:32007091;PMID:37628605)
- Short humerus (HP:0005792): Underdevelopment of the humerus. Evidence: PCS. Frequency: 2/2. (PMID:32007091)
- 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: 0/1. (PMID:35873489)
- Cone-shaped epiphyses of the phalanges of the hand (HP:0010230): A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. Evidence: PCS. Frequency: 1/1. (PMID:35873489)
- Narrow chest (HP:0000774): Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. Evidence: PCS. Frequency: 4/4. (PMID:32007091;PMID:35873489;PMID:37628605)
- 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: 2/2. (PMID:32007091)
- Short ribs (HP:0000773): Reduced rib length. Evidence: PCS. Frequency: 6/6. (PMID:32007091;PMID:35873489;PMID:37628605)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: PCS. Frequency: 0/1. (PMID:35873489)
- Craniosynostosis (HP:0001363): Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. Evidence: PCS. Frequency: 1/5. (PMID:32007091;PMID:35873489;PMID:37628605)
- Fine hair (HP:0002213): Hair that is fine or thin to the touch. Evidence: PCS. Frequency: 2/2. (PMID:32007091)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: PCS. Frequency: 3/3. (PMID:32007091;PMID:35873489)
- Delayed ability to walk (HP:0031936): A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months. Evidence: PCS. Frequency: 3/3. (PMID:32007091;PMID:35873489;PMID:37628605)
- Reduced renal corticomedullary differentiation (HP:0005565): Reduced differentiation between renal cortex and medulla on diagnostic imaging. Evidence: PCS. Frequency: 1/1. (PMID:32007091)
- Hematuria (HP:0000790): The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). Evidence: PCS. Frequency: 2/2. (PMID:32007091)
- Typical absence seizure (HP:0011147): A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event. Evidence: PCS. Frequency: 1/1. (PMID:35873489)
- Cone-shaped epiphysis (HP:0010579): Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery. Evidence: PCS. Frequency: 2/2. (PMID:37628605)
- Small for gestational age (HP:0001518): Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. Evidence: PCS. Frequency: 0/1. (PMID:35873489)
- Microretrognathia (HP:0000308): A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly. Evidence: PCS. Frequency: 1/1. (PMID:32007091)
- Hypodontia (HP:0000668): The absence of five or less teeth from the normal series by a failure to develop. Evidence: PCS. Frequency: 0/1. (PMID:35873489)
- Pointed chin (HP:0000307): A marked tapering of the lower face to the chin. Evidence: PCS. Frequency: 1/1. (PMID:32007091)
- Coarse hair (HP:0002208): Hair shafts are rough in texture. Evidence: PCS. Frequency: 1/1. (PMID:37628605)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. Frequency: 4/6. (PMID:32007091;PMID:35873489;PMID:37628605)
- 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:32007091;PMID:35873489;PMID:37628605)
- Elevated circulating creatinine concentration (HP:0003259): An increased amount of creatinine in the blood. Evidence: PCS. Frequency: 2/2. (PMID:32007091)
- Slender finger (HP:0001238): Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual. Evidence: PCS. Frequency: 1/1. (PMID:32007091)
- Obesity (HP:0001513): Accumulation of substantial excess body fat. Evidence: PCS. Frequency: 1/1. (PMID:32007091)
- Chronic bronchitis (HP:0004469): Chronic inflammation of the bronchi. Evidence: PCS. Frequency: 2/2. (PMID:37628605)
These phenotypes are associated with the disease cranioectodermal dysplasia 5 (OMIM:621180).