Phenotypes associated with the disease ANE syndrome (ORPHA:157954):
- 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:157954)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157954)
- Hypodontia (HP:0000668): The absence of five or less teeth from the normal series by a failure to develop. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157954)
- Carious teeth (HP:0000670): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157954)
- Gynecomastia (HP:0000771): Abnormal development of large mammary glands in males resulting in breast enlargement. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157954)
- 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:157954)
- 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:157954)
- Hyperpigmentation of the skin (HP:0000953): A darkening of the skin related to an increase in melanin production and deposition. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157954)
- 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: Frequent (HP:0040282). (ORPHA:157954)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157954)
- Motor deterioration (HP:0002333): Loss of previously present motor (i.e., movement) abilities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157954)
- Delayed skeletal maturation (HP:0002750): A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157954)
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157954)
- Multiple joint contractures (HP:0002828). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157954)
- 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:157954)
- Premature loss of teeth (HP:0006480): Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157954)
- Motor neuron atrophy (HP:0007373): Wasting involving the motor neuron. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157954)
- Hyperpigmented nevi (HP:0007481). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157954)
- Ulnar deviation of the hand (HP:0009487): Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157954)
- Anterior pituitary hypoplasia (HP:0010627): Underdevelopment of the anterior pituitary gland. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157954)
- Adrenocorticotropin deficient adrenal insufficiency (HP:0011735): Adrenal insufficiency secondary to a defect in ACTH production. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157954)
- Decreased circulating insulin-like growth factor 1 concentration (HP:0030353): The concentration of insulin-like growth factor 1 (IGF1) in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157954)
- Abnormal response to ACTH stimulation test (HP:0031074): An anomalous response to stimulation by administration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157954)
- Decreased serum testosterone concentration (HP:0040171). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157954)
- Lipoatrophy (HP:0100578): Localized loss of fat tissue. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157954)
- Generalized amyotrophy (HP:0003700): Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157954)
- Reduced circulating prolactin concentration (HP:0008202): A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157954)
- Pituitary hypothyroidism (HP:0008245): A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157954)