Phenotypes associated with the disease Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754):
- Hypoplastic labia minora (HP:0000064). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98754)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98754)
- 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: Frequent (HP:0040282). (ORPHA:98754)
- Psychosis (HP:0000709): A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98754)
- Autism (HP:0000717): Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98754)
- Autistic behavior (HP:0000729): Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98754)
- Primary amenorrhea (HP:0000786). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98754)
- Infertility (HP:0000789). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98754)
- 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: Frequent (HP:0040282). (ORPHA:98754)
- Decreased response to growth hormone stimulation test (HP:0000824): Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98754)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98754)
- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98754)
- Specific learning disability (HP:0001328): Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98754)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98754)
- Short foot (HP:0001773): A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98754)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98754)
- Polyphagia (HP:0002591): A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98754)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98754)
- External genital hypoplasia (HP:0003241): Underdevelopment of part or all of the external reproductive organs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98754)
- 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: Frequent (HP:0040282). (ORPHA:98754)
- Borderline intellectual disability (HP:0006889): Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98754)
- Decreased testicular size (HP:0008734): Reduced volume of the testicle (the male gonad). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98754)
- Anterior pituitary hypoplasia (HP:0010627): Underdevelopment of the anterior pituitary gland. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98754)
- 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:98754)
- Parietal cortical atrophy (HP:0012104): Atrophy of the parietal cortex. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98754)
- Occipital cortical atrophy (HP:0012105): Atrophy of the occipital cortex. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98754)
- Perisylvian polymicrogyria (HP:0012650): Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98754)
- Abnormal temper tantrums (HP:0025160): Temper tantrums are brief episodes of extreme, unpleasant, and sometimes aggressive behaviors in response to frustration or anger, which are a normal part of development in toddlers. Temper tantrums that occur more frequently in a given time and/or are more severe in symptomatology and/or longer in duration and/or inappropriate for the given age compared to a temper tantrum that naturally occurs as a part of the developmental process are classified as abnormal temper tantrums. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98754)
- Decreased circulating gonadotropin concentration (HP:0030339): A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98754)
- Postterm pregnancy (HP:0031169): A pregnancy that extends to 42 weeks of gestation or beyond. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98754)
- Small hand (HP:0200055): Disproportionately small hand. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98754)
- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98754)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98754)
- Osteoporosis (HP:0000939): Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98754)
- 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: Occasional (HP:0040283). (ORPHA:98754)
- 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: Occasional (HP:0040283). (ORPHA:98754)
- Hip dysplasia (HP:0001385): The presence of developmental dysplasia of the hip. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98754)
- Small for gestational age (HP:0001518): Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98754)
- Decreased fetal movement (HP:0001558): An abnormal reduction in quantity or strength of fetal movements. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98754)
- Sleep disturbance (HP:0002360): An abnormal pattern in the quality, quantity, or characteristics of sleep. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98754)
- Gastroparesis (HP:0002578): Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98754)
- Downturned corners of mouth (HP:0002714): A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98754)
- Obstructive sleep apnea (HP:0002870): Obstructive Sleep Apnea is a condition characterized by the obstruction of the airway and pauses in breathing during sleep, which occur multiple times throughout the night. It is related to the relaxation of muscle tone that typically happens during sleep, leading to a partial collapse of the soft tissues in the airway and causing airflow obstruction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98754)
- Central apnea (HP:0002871): Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98754)
- Almond-shaped palpebral fissure (HP:0007874): A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98754)
- Pedal edema (HP:0010741): An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98754)
- Impaired temperature sensation (HP:0010829): A reduced ability to discriminate between different temperatures. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98754)
- Central hypothyroidism (HP:0011787): A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98754)
- Skin-picking (HP:0012166): Repetitive and compulsive picking of skin which results in tissue damage. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98754)
- Premature pubarche (HP:0012411): The onset of growth of pubic hair at an earlier age than normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98754)
- Premature adrenarche (HP:0012412): Onset of adrenarche at an earlier age than usual. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98754)
- Decreased circulating inhibin B concentration (HP:0031100): The concentration of inhibin B in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98754)
- Decreased circulating T4 concentration (HP:0031507): A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98754)
- Self-injurious behavior (HP:0100716): Self-aggression. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98754)
- Bulimia (HP:0100739): A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98754)
- Precocious puberty (HP:0000826): The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98754)
- Hypopigmentation of the skin (HP:0001010): A reduction of skin color related to a decrease in melanin production and deposition. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98754)
- Moderate intellectual disability (HP:0002342): Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98754)
- Hypopigmentation of hair (HP:0005599). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98754)
- Iris hypopigmentation (HP:0007730): An abnormal reduction in the amount of pigmentation of the iris. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98754)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98754)
- Obesity (HP:0001513): Accumulation of substantial excess body fat. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98754)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98754)
- Feeding difficulties in infancy (HP:0008872): Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98754)
- 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:98754)
- Small scrotum (HP:0000046): Apparently small scrotum for age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98754)
- Clitoral hypoplasia (HP:0000060): Developmental hypoplasia of the clitoris. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98754)