- Abnormal anterior chamber morphology (HP:0000593, a Human Phenotype Ontology term): Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:782)
- Posterior embryotoxon (HP:0000627, a Human Phenotype Ontology term): A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:782)
- Aplasia/Hypoplasia of the iris (HP:0008053, a Human Phenotype Ontology term): Absence or underdevelopment of the iris. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:782)
- Everted lower lip vermilion (HP:0000232, a Human Phenotype Ontology term): An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:782)
- Hearing impairment (HP:0000365, a Human Phenotype Ontology term): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:782)
- Glaucoma (HP:0000501, a Human Phenotype Ontology term): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:782)
- Midface retrusion (HP:0011800, a Human Phenotype Ontology term): 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: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:782)
- Abnormal cardiovascular system morphology (HP:0030680, a Human Phenotype Ontology term): Any structural anomaly of the heart and blood vessels. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:782)
- Hypospadias (HP:0000047, a Human Phenotype Ontology term): 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, a Human Phenotype Ontology term). (ORPHA:782)
- Hypertelorism (HP:0000316, a Human Phenotype Ontology term): 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, a Human Phenotype Ontology term). (ORPHA:782)
- Hypoplasia of the maxilla (HP:0000327, a Human Phenotype Ontology term): 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: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:782)
- Wide nasal bridge (HP:0000431, a Human Phenotype Ontology term): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:782)
- Telecanthus (HP:0000506, a Human Phenotype Ontology term): Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:782)
- Hypodontia (HP:0000668, a Human Phenotype Ontology term): The absence of five or less teeth from the normal series by a failure to develop. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:782)
- Microdontia (HP:0000691, a Human Phenotype Ontology term): Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:782)
- Abnormality of the hypothalamus-pituitary axis (HP:0000864, a Human Phenotype Ontology term): Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:782)
- Growth delay (HP:0001510, a Human Phenotype Ontology term): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:782)
- Redundant skin (HP:0001582, a Human Phenotype Ontology term): Loose and sagging skin often associated with loss of skin elasticity. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:782)
- Anal stenosis (HP:0002025, a Human Phenotype Ontology term): Abnormal narrowing of the anal opening. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:782)
- Depressed nasal bridge (HP:0005280, a Human Phenotype Ontology term): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:782)
- Prominent forehead (HP:0011220, a Human Phenotype Ontology term): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:782)
These phenotypes are associated with the disease Axenfeld-Rieger syndrome (ORPHA:782, an Orphanet rare-disease identifier).