Phenotypes associated with the disease Duplication of the pituitary gland (ORPHA:314621):
- Wide mouth (HP:0000154): Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:314621)
- Abnormality of the tongue (HP:0000157): Any abnormality of the tongue. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:314621)
- 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: Very frequent (HP:0040281). (ORPHA:314621)
- Brachyturricephaly (HP:0000244): Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:314621)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:314621)
- Retrognathia (HP:0000278): An abnormality in which the mandible is mislocalised posteriorly. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:314621)
- 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:314621)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:314621)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:314621)
- Self-mutilation (HP:0000742): Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:314621)
- 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:314621)
- 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: Very frequent (HP:0040281). (ORPHA:314621)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:314621)
- Lower limb spasticity (HP:0002061): Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:314621)
- Encephalocele (HP:0002084): A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:314621)
- Abnormal midbrain morphology (HP:0002418): An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:314621)
- Abnormal sella turcica morphology (HP:0002679): Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:314621)
- Thoracic scoliosis (HP:0002943). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:314621)
- Abnormal odontoid process morphology (HP:0003310): Abnormal structure of the odontoid process, which is a part of the C2 or axis vertebra and forms pivot of the structures forming the craniovertebral junction. The odontoid process is also known as the dens of the axis. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:314621)
- Abnormality of the cervical spine (HP:0003319): Any abnormality of the cervical vertebral column. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:314621)
- 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:314621)
- Decreased body weight (HP:0004325): Abnormally low body weight. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:314621)
- Hypoplasia of olfactory tract (HP:0007036). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:314621)
- Early-onset non-progressive night blindness (HP:0007642): A usually nonprogressive (i.e., stationary) form of night blindness with early (presumed to be congenital) onset. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:314621)
- Teratoma (HP:0009792): The presence of a teratoma. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:314621)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:314621)
- Supernumerary tooth (HP:0011069): The presence of one or more teeth additional to the normal number. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:314621)
- Abnormality of joint mobility (HP:0011729): An abnormality in the range and ease of motion of joints across their normal range. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:314621)
- Midface retrusion (HP:0011800): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:314621)
- Abnormal hypothalamus morphology (HP:0012286): Any structural anomaly of the hypothalamus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:314621)
- Abnormal pituitary gland morphology (HP:0012503): An anomaly of the pituitary gland. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:314621)
- Abnormality of the plantar skin of foot (HP:0100872): An abnormality of the plantar part of foot, that is of the soles of the feet. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:314621)
- Abnormality of masseter muscle (HP:3000005): An abnormality of a masseter muscle. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:314621)
- Volvulus (HP:0002580): Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:314621)