Phenotypes associated with the disease syndromic X-linked intellectual disability Claes-Jensen type (OMIM:300534):
- Decreased body weight (HP:0004325): Abnormally low body weight. Evidence: PCS. Frequency: 3/3. (PMID:21575681)
- Large hands (HP:0001176). Evidence: PCS. Frequency: 2/2. (PMID:16538222)
- 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: 11/29. (PMID:15586325;OMIM:300534)
- Short foot (HP:0001773): A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). Evidence: PCS. Frequency: 3/3. (PMID:21575681)
- 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: PCS. Frequency: 13/18. (PMID:18697827;PMID:19826449;PMID:21575681)
- 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: PCS. Frequency: 8/35. (PMID:18697827;PMID:19826449;PMID:15586325)
- Flexion contracture (HP:0001371): A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. Evidence: PCS. Frequency: 1/6. (PMID:19826449)
- 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: 1/20. (PMID:15586325)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 3/3. (PMID:31419599)
- Aggressive behavior (HP:0000718): Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires). Evidence: PCS. Frequency: 13/38. (PMID:18697827;PMID:19826449;PMID:15586325;PMID:21575681)
- Restlessness (HP:0000711): A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior. Evidence: IEA. (OMIM:300534)
- Decreased testicular size (HP:0008734): Reduced volume of the testicle (the male gonad). Evidence: PCS. Frequency: 3/29. (PMID:18697827;PMID:15586325)
- Hyperactivity (HP:0000752): Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate. Evidence: PCS. Frequency: 3/3. (PMID:21575681)
- 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: 25/26. (PMID:19826449;PMID:15586325)
- Facial hypotonia (HP:0000297): Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve). Evidence: IEA. (OMIM:300534)
- Micropenis (HP:0000054): Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. Evidence: PCS. Frequency: 1/20. (PMID:15586325)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 7/20. (PMID:18697827;PMID:19826449;PMID:31419599;PMID:21575681)
- Patchy alopecia (HP:0002232): Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches. Evidence: PCS. Frequency: 1/20. (PMID:15586325)
- Thick eyebrow (HP:0000574): Increased density/number and/or increased diameter of eyebrow hairs. Evidence: PCS. Frequency: 1/6. (PMID:19826449)
- Babinski sign (HP:0003487): Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. Evidence: IEA. (OMIM:300534)
- Lower limb hyperreflexia (HP:0002395): Increased intensity of the a reflex in the leg. Evidence: IEA. (OMIM:300534)
- Deeply set eye (HP:0000490): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: PCS. Frequency: 1/20. (PMID:15586325)
- 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: 3/3. (PMID:21575681)
- X-linked recessive inheritance (HP:0001419): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:15586325)
- Hypoplasia of the maxilla (HP:0000327): Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region. Evidence: PCS. Frequency: 7/23. (PMID:15586325;PMID:21575681)
- 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: 2/2. (PMID:16538222)
- Talipes calcaneovarus (HP:0008124): A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus. Evidence: IEA. (OMIM:300534)
- Macrotia (HP:0000400): Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). Evidence: PCS. Frequency: 2/2. (PMID:16538222)
- Recurrent upper respiratory tract infections (HP:0002788): An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). Evidence: PCS. Frequency: 3/3. (PMID:21575681)
- 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: PCS. Frequency: 7/20. (PMID:15586325)
- 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: 1/20. (PMID:15586325)
- 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. (OMIM:300534)
- 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: 3/20. (PMID:15586325)
- Furrowed tongue (HP:0000221): Accentuation of the grooves on the dorsal surface of the tongue. Evidence: PCS. Frequency: 2/2. (PMID:16538222)
- Shuffling gait (HP:0002362): A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground. Evidence: IEA. (OMIM:300534)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 3/3. (PMID:31419599)
- Severe intellectual disability (HP:0010864): Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34. Evidence: PCS. Frequency: 8/8. (PMID:16538222;PMID:31419599;PMID:21575681)
- Progressive spastic paraplegia (HP:0007020). Evidence: IEA. (OMIM:300534)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 3/3. (PMID:21575681)
- Pain insensitivity (HP:0007021): Inability to perceive painful stimuli. Evidence: PCS. Frequency: 2/20. (PMID:15586325)
- Short distal phalanx of finger (HP:0009882): Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger. Evidence: TAS. (OMIM:300534)
- 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: 1/20. (PMID:15586325)
- Lower limb hypertonia (HP:0006895). Evidence: IEA. (OMIM:300534)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: PCS. Frequency: 6/12. (PMID:18697827;PMID:21575681)
- 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: 3/6. (PMID:19826449)
- Macrocephaly (HP:0000256): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: PCS. Frequency: 2/20. (PMID:15586325)
- Diastema (HP:0000699): Increased space between two adjacent teeth in the same dental arch. Evidence: PCS. Frequency: 6/22. (PMID:16538222;PMID:15586325)
- Hyperreflexia (HP:0001347): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: PCS. Frequency: 3/6. (PMID:19826449)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: TAS. (OMIM:300534)
- 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: 3/3. (PMID:31419599)
- Small forehead (HP:0000350): The presence of a forehead that is abnormally small. Evidence: PCS. Frequency: 1/20. (PMID:15586325)
- Cholelithiasis (HP:0001081): Hard, pebble-like deposits that form within the gallbladder. Evidence: PCS. Frequency: 2/20. (PMID:15586325)
- Tonic seizure (HP:0032792): A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening. Evidence: PCS. Frequency: 1/3. (PMID:31419599)
- Prominent nasal bridge (HP:0000426): Anterior positioning of the nasal root in comparison to the usual positioning for age. Evidence: PCS. Frequency: 2/6. (PMID:19826449)
- Low frustration tolerance (HP:0000744): The feeling of frustration can be defined as an emotional reaction that occurs when a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration, characterized by crying or temper tantrums in children, or aggressive or other maladaptive behaviors. Evidence: IEA. (OMIM:300534)
- Cubitus valgus (HP:0002967): Abnormal positioning in which the elbows are turned out. Evidence: PCS. Frequency: 2/2. (PMID:16538222)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. Frequency: 3/3. (PMID:21575681)
- 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: 2/20. (PMID:15586325)
- Mandibular prognathia (HP:0000303): Abnormal prominence of the chin related to increased length of the mandible. Evidence: PCS. Frequency: 2/20. (PMID:15586325)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 1/20. (PMID:15586325)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: PCS. Frequency: 1/20. (PMID:15586325)
- Distal lower limb amyotrophy (HP:0008944): Muscular atrophy of distal leg muscles. Evidence: TAS. (OMIM:300534)