Phenotypes associated with the disease Maternal uniparental disomy of chromosome X syndrome (ORPHA:261519):
- Azoospermia (HP:0000027): Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:261519)
- Ambiguous genitalia (HP:0000062): A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:261519)
- Thin vermilion border (HP:0000233): Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:261519)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:261519)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:261519)
- Shield chest (HP:0000914): A broad chest. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:261519)
- Hypopigmentation of the skin (HP:0001010): A reduction of skin color related to a decrease in melanin production and deposition. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:261519)
- 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:261519)
- 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 frequent (HP:0040281). (ORPHA:261519)
- 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:261519)
- 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:261519)
- Flexion contracture (HP:0001371): A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:261519)
- Hepatic failure (HP:0001399). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:261519)
- 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:261519)
- Congestive heart failure (HP:0001635): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:261519)
- Rocker bottom foot (HP:0001838): The presence of both a prominent heel and a convex contour of the sole. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:261519)
- Low posterior hairline (HP:0002162): Hair on the neck extends more inferiorly than usual. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:261519)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:261519)
- Abnormality of chromosome segregation (HP:0002916): An abnormality of chromosome segregation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:261519)
- Cubitus valgus (HP:0002967): Abnormal positioning in which the elbows are turned out. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:261519)
- Inverted nipples (HP:0003186): The presence of nipples that instead of pointing outward are retracted inwards. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:261519)
- Gonadal tissue inappropriate for external genitalia or chromosomal sex (HP:0003248). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:261519)
- Predominantly lower limb lymphedema (HP:0003550): Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:261519)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:261519)
- Primary gonadal insufficiency (HP:0008193). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:261519)
- Camptodactyly of finger (HP:0100490): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:261519)