Phenotypes associated with the disease Intellectual disability-polydactyly-uncombable hair syndrome (ORPHA:3082):
- 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: Very frequent (HP:0040281). (ORPHA:3082)
- Abnormal palate morphology (HP:0000174): Any abnormality of the palate, i.e., of roof of the mouth. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3082)
- Mandibular prognathia (HP:0000303): Abnormal prominence of the chin related to increased length of the mandible. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3082)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3082)
- Conductive hearing impairment (HP:0000405): An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3082)
- Narrow nasal bridge (HP:0000446): Decreased width of the bony bridge of the nose. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3082)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3082)
- 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:3082)
- Hypotelorism (HP:0000601): Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3082)
- Pectus carinatum (HP:0000768): A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3082)
- Abnormal rib morphology (HP:0000772): An anomaly of the rib. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3082)
- Postaxial hand polydactyly (HP:0001162): Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3082)
- 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:3082)
- Abnormal hair morphology (HP:0001595): An abnormality of the hair. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3082)
- Toe syndactyly (HP:0001770): Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism". Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3082)
- Aplasia/Hypoplasia of toe (HP:0001991): Absence or hypoplasia of toes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3082)
- 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:3082)
- Slow-growing hair (HP:0002217): Hair whose growth is slower than normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3082)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3082)
- 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: Very frequent (HP:0040281). (ORPHA:3082)
- Hernia of the abdominal wall (HP:0004299): The presence of a hernia in the abdominal wall. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3082)
- 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:3082)
- Abnormal epiphysis morphology (HP:0005930): An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3082)
- Aplasia/Hypoplasia of fingers (HP:0006265): Small/hypoplastic or absent/aplastic fingers. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3082)
- Wide intermamillary distance (HP:0006610): A larger than usual distance between the left and right nipple. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3082)
- Hypoplasia of penis (HP:0008736). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3082)
- Abnormal antihelix morphology (HP:0009738): An abnormality of the antihelix. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3082)
- Abnormal antitragus morphology (HP:0009896): An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3082)
- Aplasia/Hypoplasia of the earlobes (HP:0009906): Absence or underdevelopment of the ear lobes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3082)
- Broad hallux phalanx (HP:0010059): An increase in width in one or more phalanges of the big toe. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3082)
- Metatarsus valgus (HP:0010508): A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3082)
- Abnormality of immune system physiology (HP:0010978): A functional abnormality of the immune system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3082)
- Uncombable hair (HP:0030056): Hair that is disorderly, stands out from the scalp, and cannot be combed flat. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3082)
- Aplasia/Hypoplasia of the eyebrow (HP:0100840): Absence or underdevelopment of the eyebrow. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3082)