- Hydroureter (HP:0000072): The distention of the ureter with urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Abnormality of the kidney (HP:0000077): An abnormality of the kidney. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Abnormality of the urinary system (HP:0000079): An abnormality of the urinary system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Prominent occiput (HP:0000269): Increased convexity of the occiput (posterior part of the skull). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Retrognathia (HP:0000278): An abnormality in which the mandible is mislocalised posteriorly. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Bulbous nose (HP:0000414): Increased volume and globular shape of the anteroinferior aspect of the nose. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Prominent nose (HP:0000448): Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Abnormality of the skeletal system (HP:0000924): An abnormality of the skeletal system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Abnormal metaphysis morphology (HP:0000944): An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Abnormal finger morphology (HP:0001167): An anomaly of a finger. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Large hands (HP:0001176). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Specific learning disability (HP:0001328): Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Rigidity (HP:0002063): Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Generalized non-motor (absence) seizure (HP:0002121): A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Status epilepticus (HP:0002133): Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Rickets (HP:0002748): Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Osteomalacia (HP:0002749): Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Delayed skeletal maturation (HP:0002750): A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Respiratory failure (HP:0002878): A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Micromelia (HP:0002983): The presence of abnormally small extremities. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Abnormal pubic bone morphology (HP:0003172): An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (pubis, ilium, ischium) of the hip bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Long nose (HP:0003189): Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Abnormal vertebral body morphology (HP:0003312): Abnormal form of vertebral body, which is the central cylindrical portion of the vertebra that together with other structures such as the vertebral arch, pedicles, laminae, spinous process, transverse processes, and articular facets makes up a vertebra. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Severe short stature (HP:0003510): A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Muscle stiffness (HP:0003552): A condition in which muscles cannot be moved quickly without accompanying pain or spasm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Short palm (HP:0004279): Short palm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Abnormal intervertebral disk morphology (HP:0005108): Any structural abnormality of the intervertebral disk. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Aplasia/hypoplasia of the femur (HP:0005613): Absence or underdevelopment of the femur. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Abnormal metacarpal morphology (HP:0005916): Any abnormal shape or structure of the metacarpal bones. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Aplastic clavicle (HP:0006660): Absence of the clavicles as a developmental defect. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Bilateral single transverse palmar creases (HP:0007598): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Large iliac wing (HP:0008818): Increased size of the ilium ala. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Abnormal distal phalanx morphology of finger (HP:0009832): Any anomaly of distal phalanx of finger. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Broad distal phalanx of finger (HP:0009836): Abnormally wide (broad) distal phalanx of finger. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Bifid femur (HP:0010443): A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Abnormality of the upper urinary tract (HP:0010935): An abnormality of the upper urinary tract. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Epileptic spasm (HP:0011097): A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Loss of eyelashes (HP:0011457): This term refers to the loss of eyelashes that were previously present. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Thin eyebrow (HP:0045074): Decreased diameter of eyebrow hairs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Abnormal circulating calcium-phosphate regulating hormone concentration (HP:0100530): Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- Abnormally ossified vertebrae (HP:0100569): An abnormality of the formation and mineralization of one or more vertebrae. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2636)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2636)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2636)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2636)
- Bifid uvula (HP:0000193): Uvula separated into two parts most easily seen at the tip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2636)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2636)
- Malar flattening (HP:0000272): Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2636)
- Sloping forehead (HP:0000340): Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2636)
- Thickened nuchal skin fold (HP:0000474): A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2636)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2636)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2636)
- Abnormal tragus morphology (HP:0009912): An abnormality of the tragus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2636)
- Thick vermilion border (HP:0012471): Increased width of the skin of vermilion border region of upper lip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2636)
These phenotypes are associated with the disease Microcephalic osteodysplastic primordial dwarfism types I and III (ORPHA:2636).