- 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: Frequent (HP:0040282). (ORPHA:3455)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Hypermetropia (HP:0000540): An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Abnormality of the ear (HP:0000598): An abnormality of the ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Synophrys (HP:0000664): Meeting of the medial eyebrows in the midline. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Hypodontia (HP:0000668): The absence of five or less teeth from the normal series by a failure to develop. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Decreased response to growth hormone stimulation test (HP:0000824): Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Increased circulating prolactin concentration (HP:0000870): The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- 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: Frequent (HP:0040282). (ORPHA:3455)
- Acanthosis nigricans (HP:0000956): A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Thin skin (HP:0000963): Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Hirsutism (HP:0001007): Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- 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: Frequent (HP:0040282). (ORPHA:3455)
- 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: Frequent (HP:0040282). (ORPHA:3455)
- 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: Frequent (HP:0040282). (ORPHA:3455)
- Confusion (HP:0001289): Lack of clarity and coherence of thought, perception, understanding, or action. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Hip dysplasia (HP:0001385): The presence of developmental dysplasia of the hip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Hepatic steatosis (HP:0001397): Steatosis is a term used to denote lipid accumulation within hepatocytes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Recurrent skin infections (HP:0001581): Infections of the skin that happen multiple times. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Truncal ataxia (HP:0002078): Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Moderate intellectual disability (HP:0002342): Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Leukodystrophy (HP:0002415): Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Narrow mouth (HP:0000160): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3455)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3455)
- 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: Very frequent (HP:0040281). (ORPHA:3455)
- Retrognathia (HP:0000278): An abnormality in which the mandible is mislocalised posteriorly. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3455)
- Loss of facial adipose tissue (HP:0000292): Loss of normal subcutaneous fat tissue in the face. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3455)
- Pointed chin (HP:0000307): A marked tapering of the lower face to the chin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3455)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3455)
- Short philtrum (HP:0000322): Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3455)
- Triangular face (HP:0000325): Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3455)
- Broad forehead (HP:0000337): 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3455)
- 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:3455)
- Convex nasal ridge (HP:0000444): Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3455)
- Deeply set eye (HP:0000490): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3455)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3455)
- Entropion (HP:0000621): An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3455)
- Natal tooth (HP:0000695): A tooth present at birth or erupting within the first month of life. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3455)
- Prominent scalp veins (HP:0001043). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3455)
- 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:3455)
- Slender build (HP:0001533): Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3455)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3455)
- Sparse scalp hair (HP:0002209): Decreased number of hairs per unit area of skin of the scalp. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3455)
- Downturned corners of mouth (HP:0002714): A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3455)
- Reduced subcutaneous adipose tissue (HP:0003758): A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3455)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3455)
- Relative macrocephaly (HP:0004482): A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3455)
- Widely patent fontanelles and sutures (HP:0004492): An abnormally increased width of the cranial fontanelles and sutures. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3455)
- Progeroid facial appearance (HP:0005328): A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3455)
- Severe intrauterine growth retardation (HP:0008846): Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3455)
- Congenital generalized lipodystrophy (HP:0009059). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3455)
- Lipoatrophy (HP:0100578): Localized loss of fat tissue. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3455)
- 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:3455)
- Hypogonadotropic hypogonadism (HP:0000044): Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Cranial asymmetry (HP:0000267): Asymmetry of the bones of the skull. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Hearing abnormality (HP:0000364): An abnormality of the sensory perception of sound. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Limb hypertonia (HP:0002509). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Thickened calvaria (HP:0002684): The presence of an abnormally thick calvaria. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Short femur (HP:0003097): An abnormal shortening of the femur. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- CNS hypomyelination (HP:0003429): Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Skeletal muscle hypertrophy (HP:0003712): Abnormal increase in muscle size and mass not due to training. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Short humerus (HP:0005792): Underdevelopment of the humerus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Thin long bone diaphyses (HP:0006470): Decreased width of the diaphysis of long bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Premature loss of teeth (HP:0006480): Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Corneal opacity (HP:0007957): A reduction of corneal clarity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Aplasia/Hypoplasia of the nails (HP:0008386): Aplasia or developmental hypoplasia of the nail. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Irregular sclerotic endplates (HP:0008476). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Increased subcutaneous truncal adipose tissue (HP:0009003): The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Long toe (HP:0010511): Toes that appear disproportionately long compared to the foot. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Dermal translucency (HP:0010648): An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Caesarean section (HP:0011410): Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Submucous cleft soft palate (HP:0011819): A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Wide nasal ridge (HP:0012811): Increased width of the nasal ridge. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Camptodactyly of finger (HP:0100490): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Premature skin wrinkling (HP:0100678): The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Synovitis (HP:0100769). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Long fingers (HP:0100807): The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3455)
- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3455)
- Vesicoureteral reflux (HP:0000076): Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3455)
- Absent earlobe (HP:0000387): Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3455)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3455)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3455)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3455)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3455)
- Gynecomastia (HP:0000771): Abnormal development of large mammary glands in males resulting in breast enlargement. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3455)
- Hypoplastic ilia (HP:0000946): Underdevelopment of the ilium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3455)
- 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: Occasional (HP:0040283). (ORPHA:3455)
- Ataxia (HP:0001251): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3455)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3455)
- Cerebellar hypoplasia (HP:0001321): Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3455)
- Tremor (HP:0001337): An unintentional, oscillating to-and-fro muscle movement about a joint axis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3455)
- Laryngomalacia (HP:0001601): Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3455)
- Pulmonic stenosis (HP:0001642): A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3455)
- Polymicrogyria (HP:0002126): Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3455)
- Action tremor (HP:0002345): A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3455)
- Atlantoaxial abnormality (HP:0003413): An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3455)
- 2-3 toe syndactyly (HP:0004691): Syndactyly with fusion of toes two and three. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3455)
- Chiari type I malformation (HP:0007099): Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3455)
- Cervical vertebral dysplasia (HP:0008469): Dysplasia of the cervical vertebral column. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3455)
- Hypoplastic vertebral bodies (HP:0008479). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3455)
- Abnormal corpus striatum morphology (HP:0010994): Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3455)
- Wide penis (HP:0030265): Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3455)
- Dilatation of renal calices (HP:0100581): An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3455)
- Hypospadias (HP:0000047): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3455)
- Blue sclerae (HP:0000592): An abnormal bluish coloration of the sclera. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3455)
- Hyperthyroidism (HP:0000836): An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3455)
- Dysplastic pulmonary valve (HP:0005164): A congenital malformation of the pulmonary valve characterized by leaflet deformation. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3455)
- Type II diabetes mellitus (HP:0005978): A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3455)
- Optic disc hypoplasia (HP:0007766): Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3455)
- Increased serum estradiol (HP:0025134): An elevation above normal limits of the concentration of estradiol in the circulation. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3455)
- Lagophthalmos (HP:0030001): A condition in which the eyelids do not close to cover the eye completely. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3455)
- Increased serum testosterone level (HP:0030088): An elevated circulating testosterone level in the blood. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3455)
- Congenital malformation of the left heart (HP:0045017): Defect or defects of the morphogenesis of the left heart identifiable at birth. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3455)
These phenotypes are associated with the disease Wiedemann-Rautenstrauch syndrome (ORPHA:3455).