Phenotypes associated with the disease 46,XY sex reversal 4 (OMIM:154230):
- 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: 2/2. (PMID:15172006)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: IEA. Frequency: 2/2. (PMID:15172006)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: PCS. Frequency: 1/2. (PMID:15172006)
- Long philtrum (HP:0000343): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: PCS. Frequency: 1/2. (PMID:15172006)
- Anteverted nares (HP:0000463): Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). Evidence: PCS. Frequency: 1/2. (PMID:15172006)
- Trigonocephaly (HP:0000243): Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput. Evidence: PCS. Frequency: 2/2. (PMID:15172006)
- Hypergonadotropic hypogonadism (HP:0000815): Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay. Evidence: PCS. Frequency: 1/2. (PMID:15172006)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: PCS. Frequency: 1/2. (PMID:15172006)
- Agonadism (HP:0008633): Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females). Evidence: PCS. Frequency: 1/2. (PMID:15172006)
- 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: 2/2. (PMID:15172006)
- Hypoplastic labia majora (HP:0000059): Undergrowth of the outer labia. Evidence: PCS. Frequency: 1/2. (PMID:15172006)
- Depressed nasal ridge (HP:0000457): Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge. Evidence: PCS. Frequency: 2/2. (PMID:15172006)
- Renal dysplasia (HP:0000110): The presence of developmental dysplasia of the kidney. Evidence: PCS. Frequency: 1/2. (PMID:15172006)
- 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: PCS. Frequency: 1/2. (PMID:15172006)
- Hypoplasia of the uterus (HP:0000013): Underdevelopment of the uterus. Evidence: PCS. Frequency: 1/2. (PMID:15172006)
- Gonadal dysgenesis (HP:0000133): Gonadal dysgenesis is the name given to any of a multitude of conditions that can cause impaired development of the gonads, i.e., the testes or ovaries, or to the related phenotypic features. The term is to be avoided if possible for new annotations, and more specific terms should be chosen. Evidence: PCS. (PMID:15172006)
- 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: 2/2. (PMID:15172006)
- Ureteropelvic junction obstruction (HP:0000074): Blockage of urine flow from the renal pelvis to the proximal ureter. Evidence: PCS. Frequency: 1/2. (PMID:15172006)
- Distal symphalangism (HP:0100263). Evidence: PCS. Frequency: 1/2. (PMID:15172006)
- Sex reversal (HP:0012245): Development of the reproductive system is inconsistent with the chromosomal sex. Evidence: PCS. Frequency: 2/2. (PMID:15172006)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: 1/2. (PMID:15172006)
- Prominent nose (HP:0000448): Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip. Evidence: PCS. Frequency: 1/2. (PMID:15172006)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 1/2. (PMID:15172006)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:15172006)
- Elevated circulating creatinine concentration (HP:0003259): An increased amount of creatinine in the blood. Evidence: PCS. Frequency: 1/2. (PMID:15172006)
- Increased blood urea nitrogen (HP:0003138): An increased amount of nitrogen in the form of urea in the blood. Evidence: PCS. Frequency: 1/2. (PMID:15172006)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 1/2. (PMID:15172006)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: PCS. Frequency: 1/2. (PMID:15172006)