Phenotypes associated with the disease X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome (ORPHA:2958, an Orphanet rare-disease identifier):
- Inguinal hernia (HP:0000023, a Human Phenotype Ontology term): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:2958)
- Cryptorchidism (HP:0000028, a Human Phenotype Ontology term): 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: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:2958)
- Retrognathia (HP:0000278, a Human Phenotype Ontology term): An abnormality in which the mandible is mislocalised posteriorly. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:2958)
- Epicanthus (HP:0000286, a Human Phenotype Ontology term): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:2958)
- 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: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:2958)
- High forehead (HP:0000348, a Human Phenotype Ontology term): An abnormally increased height of the forehead. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:2958)
- Low-set ears (HP:0000369, a Human Phenotype Ontology term): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:2958)
- Prominent nose (HP:0000448, a Human Phenotype Ontology term): 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: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:2958)
- Strabismus (HP:0000486, a Human Phenotype Ontology term): 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, a Human Phenotype Ontology term). (ORPHA:2958)
- Ptosis (HP:0000508, a Human Phenotype Ontology term): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:2958)
- Nystagmus (HP:0000639, a Human Phenotype Ontology term): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:2958)
- Osteoporosis (HP:0000939, a Human Phenotype Ontology term): 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: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:2958)
- Abnormal fundus morphology (HP:0001098, a Human Phenotype Ontology term): Any structural abnormality of the fundus of the eye. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:2958)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): 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, a Human Phenotype Ontology term). (ORPHA:2958)
- Generalized hypotonia (HP:0001290, a Human Phenotype Ontology term): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:2958)
- Bilateral talipes equinovarus (HP:0001776, a Human Phenotype Ontology term): Bilateral clubfoot deformity. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:2958)
- Cerebral atrophy (HP:0002059, a Human Phenotype Ontology term): Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:2958)
- Coxa valga (HP:0002673, a Human Phenotype Ontology term): Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:2958)
- Supernumerary ribs (HP:0005815, a Human Phenotype Ontology term): The presence of more than 12 rib pairs. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:2958)
- Patellar subluxation (HP:0010499, a Human Phenotype Ontology term): The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:2958)
- Skin dimple (HP:0010781, a Human Phenotype Ontology term): Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:2958)
- Abnormal number of incisors (HP:0011064, a Human Phenotype Ontology term): The presence of an altered number of the incisor teeth. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:2958)
- Finger clinodactyly (HP:0040019, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:2958)