- Oculomotor apraxia (HP:0000657): Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:397715)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:397715)
- 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: Frequent (HP:0040282). (ORPHA:397715)
- 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:397715)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:397715)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:397715)
- Molar tooth sign on MRI (HP:0002419): An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:397715)
- Tachypnea (HP:0002789): Very rapid breathing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:397715)
- Hyperechogenic kidneys (HP:0004719): An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:397715)
- Elongated superior cerebellar peduncle (HP:0011933): Increased length of the superior cerebellar peduncle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:397715)
- 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: Occasional (HP:0040283). (ORPHA:397715)
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Renal dysplasia (HP:0000110): The presence of developmental dysplasia of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- 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: Occasional (HP:0040283). (ORPHA:397715)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- 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: Occasional (HP:0040283). (ORPHA:397715)
- 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: Occasional (HP:0040283). (ORPHA:397715)
- Overfolded helix (HP:0000396): A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- 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: Occasional (HP:0040283). (ORPHA:397715)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Visual loss (HP:0000572): Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Short ribs (HP:0000773): Reduced rib length. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Renal cortical cysts (HP:0000803): Cysts of the cortex of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Long clavicle (HP:0000890): Increased length of the clavicles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- 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: Occasional (HP:0040283). (ORPHA:397715)
- 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: Occasional (HP:0040283). (ORPHA:397715)
- Abnormal corpus callosum morphology (HP:0001273): Abnormality of the corpus callosum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Dandy-Walker malformation (HP:0001305): A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Abnormal cerebellum morphology (HP:0001317): Any structural abnormality of the cerebellum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Cerebellar vermis hypoplasia (HP:0001320): Underdevelopment of the vermis of cerebellum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Absent septum pellucidum (HP:0001331): Absence of the septum pellucidum (meaning translucent wall in Latin - SP), also known as the ventricle of Sylvius. The septum pellucidum is a thin, triangular double membrane separating the frontal horns of the right and left lateral ventricles of the brain. It extends between the anterior portion of the corpus callosum, and the body of the fornix and its width varies from 1.5 to 3.0 mm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Absent speech (HP:0001344): Complete lack of development of speech and language abilities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Bell-shaped thorax (HP:0001591): The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Gastroesophageal reflux (HP:0002020): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Occipital encephalocele (HP:0002085): A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Recurrent aspiration pneumonia (HP:0002100): Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Apnea (HP:0002104): Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Abnormal basal ganglia morphology (HP:0002134): Abnormality of the basal ganglia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Dysgenesis of the cerebellar vermis (HP:0002195): Defective development of the vermis of cerebellum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Enlarged cisterna magna (HP:0002280): Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Meningocele (HP:0002435): Protrusion of the meninges through a defect of the skull or vertebral column. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Increased intracranial pressure (HP:0002516): An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Supernumerary nipple (HP:0002558): Presence of more than two nipples. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Elevated circulating hepatic transaminase concentration (HP:0002910): Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Abnormal acetabulum morphology (HP:0003170): An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Proximal femoral metaphyseal irregularity (HP:0003411): Irregularity of the normally smooth surface of the proximal metaphysis of the femur. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- 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: Occasional (HP:0040283). (ORPHA:397715)
- Small cervical vertebral bodies (HP:0004629): Reduced size of cervical vertebrae. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Rhizomelic arm shortening (HP:0004991): Disproportionate shortening of the proximal segment of the arm (i.e. the humerus). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Thoracic hypoplasia (HP:0005257). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Redundant neck skin (HP:0005989): Excess skin around the neck, often lying in horizontal folds. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Chronic lung disease (HP:0006528): According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Wide intermamillary distance (HP:0006610): A larger than usual distance between the left and right nipple. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Twelfth rib hypoplasia (HP:0006668). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Aplasia/Hypoplasia involving bones of the thorax (HP:0006711). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Lateral ventricle dilatation (HP:0006956). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Dilated third ventricle (HP:0007082): An increase in size of the third ventricle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Cervical spinal canal stenosis (HP:0008445): An abnormal narrowing of the cervical spinal canal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Early ossification of capital femoral epiphyses (HP:0008797): Developmental acceleration of ossification of the proximal epiphysis of the femur. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Duane anomaly (HP:0009921): A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Abnormal 5th metacarpal morphology (HP:0010013): Any abnormality of the fifth metacarpal bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- 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: Occasional (HP:0040283). (ORPHA:397715)
- Rhizomelic leg shortening (HP:0012106): Disproportionate shortening of the proximal segment of the leg (i.e. the femur). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Abnormal optic disc morphology (HP:0012795): A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Colpocephaly (HP:0030048): Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Subretinal deposits (HP:0031528): Deposits accumulating between the outer retina and the retinal pigment epithelium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Postaxial polydactyly (HP:0100259): A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
- Open operculum (HP:0100954): Underdevelopment of the operculum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:397715)
These phenotypes are associated with the disease Joubert syndrome with Jeune asphyxiating thoracic dystrophy (ORPHA:397715).