- Abnormal hypothalamus morphology (HP:0012286): Any structural anomaly of the hypothalamus. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:54595)
- Cerebral calcification (HP:0002514): The presence of calcium deposition within the cerebrum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:54595)
- Intracranial cystic lesion (HP:0010576): A cystic lesion originating within the brain. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:54595)
- Neoplasm of the anterior pituitary (HP:0011750): A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:54595)
- Enlarged pituitary gland (HP:0012505): An abnormally increased size of the pituitary gland. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:54595)
- Hypopituitarism (HP:0040075). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:54595)
- 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:54595)
- Hypogonadism (HP:0000135): A decreased functionality of the gonad. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:54595)
- Central diabetes insipidus (HP:0000863): A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:54595)
- 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:54595)
- Papilledema (HP:0001085): Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:54595)
- Excessive daytime somnolence (HP:0001262): A state of abnormally strong desire for sleep during the daytime. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:54595)
- Obesity (HP:0001513): Accumulation of substantial excess body fat. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:54595)
- Nausea and vomiting (HP:0002017): Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:54595)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:54595)
- Sleep disturbance (HP:0002360): An abnormal pattern in the quality, quantity, or characteristics of sleep. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:54595)
- Slow decrease in visual acuity (HP:0007924). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:54595)
- Progressive visual field defects (HP:0007987). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:54595)
- Pituitary hypothyroidism (HP:0008245): A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:54595)
- Central adrenal insufficiency (HP:0011734): A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:54595)
- Bitemporal hemianopia (HP:0030521). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:54595)
- Abnormal visual field test (HP:0030588): Abnormal result of a test designed to test an individual's central and peripheral vision by determining the ability of the individual to perceive objects at differing locations of the visual field. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:54595)
- 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: Occasional (HP:0040283). (ORPHA:54595)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:54595)
- 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:54595)
- Delayed puberty (HP:0000823): Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:54595)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:54595)
- 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:54595)
- Polyphagia (HP:0002591): A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:54595)
- Cerebral ischemia (HP:0002637): Restriction of arterial blood supply to the brain associated with insufficient oxygenation to support the metabolic requirements of the tissue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:54595)
- Increased susceptibility to fractures (HP:0002659): An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:54595)
- Proportionate short stature (HP:0003508): A kind of short stature in which different regions of the body are shortened to a comparable extent. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:54595)
- 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: Occasional (HP:0040283). (ORPHA:54595)
- Sleep apnea (HP:0010535): An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:54595)
- Atypical behavior (HP:0000708): Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:54595)
- Sudden loss of visual acuity (HP:0001117): Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:54595)
- 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 rare (HP:0040284). (ORPHA:54595)
- 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: Very rare (HP:0040284). (ORPHA:54595)
- Coma (HP:0001259): The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:54595)
- 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 rare (HP:0040284). (ORPHA:54595)
- Myocardial infarction (HP:0001658): Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:54595)
- Vertigo (HP:0002321): An abnormal sensation of spinning while the body is actually stationary. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:54595)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:54595)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:54595)
- Abnormal nasal bone morphology (HP:0010939): An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:54595)
- Abnormal frontal bone morphology (HP:0430000): An abnormality of the frontal bone. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:54595)
These phenotypes are associated with the disease Craniopharyngioma (ORPHA:54595).