| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (58.6%) |
21654007 |
Mosaic pentasomy X/tetrasomy X syndrome and premature ovarian failure. Wood A, Kleis L, Toriello H, Cemeroglu AP. Indian Pediatr. 2011;48(5):402-4. |
| Facial asymmetry Long philtrum Scoliosis Cubitus valgus | ||
| Aneuploidy Chromosomes, Human, X Craniofacial Abnormalities Females Homo sapiens Intellectual Disability Ovarian Failure, Premature Phenotype Sex Chromosome Aberrations Sex Chromosome Disorders Syndrome | ||
| 2 (52.1%) |
8487481 |
[Tetra-X syndrome with epilepsy, mental retardation and multiple dysmorphias]. Fehlow P, Miosge W, Walther F. Klin Padiatr. 1993;205(2):127-9. |
| Telecanthus Clinodactyly | ||
| Adult Females Homo sapiens Intellectual Disability Neurologic Examination Phenotype Sex Chromosome Aberrations Tonic-Clonic Epilepsy X Chromosome | ||
| 3 (39.0%) |
4035270 |
47,XXX/48,XXXX in a retarded three year old girl with multiple somatic anomalies. Ioan D, Hirsovescu N, Dumitriu L, Belengeanu V, Museteanu P, Maximilian C. Endocrinologie. 1985;23(2):121-4. |
| Dolichocephaly | ||
| Child, Preschool Females Homo sapiens Intellectual Disability Phenotype Sex Chromosome Aberrations Syndrome X Chromosome | ||
| 4 (21.2%) |
24221609 |
Premature ovarian failure due to tetrasomy X in an adolescent girl. Kara C, Ustyol A, Ylmaz A, Altundag E, Ogur G. Eur J Pediatr. 2014;173(12):1627-30. |
| Secondary amenorrhea Osteoporosis | ||
| HPRT1 | ||
| Chromosomes, Human, X Craniofacial Abnormalities Females Homo sapiens Intellectual Disability Ovarian Failure, Premature Polymerase Chain Reaction Sex Chromosome Aberrations | ||
| 5 (4.0%) |
29744081 (5930223) |
A case report of hypersomnia in tetrasomy X improved with medical therapy. Jayaraman D, Carvalho KS, Hasbani DM. Clin Case Rep. 2018;6(5):893-895. |
| Hypersomnia | ||
| 5 (4.0%) |
28500832 |
Combined pituitary hormone deficiency in a girl with 48, XXXX and Rathke's cleft cyst. Uppal S, Jee YH, Lightbourne M, Han JC, Stratakis CA. Hormones (Athens). 2017;16(1):92-98. |
| Decreased response to growth hormone stimuation test | ||
| Central Nervous System Cysts Child Craniofacial Abnormalities Females Homo sapiens Hypopituitarism Intellectual Disability Magnetic Resonance Imaging Pituitary Gland Pituitary Neoplasms Sex Chromosome Aberrations | ||
| 5 (4.0%) |
24012046 |
Female polysomy-X and systemic lupus erythematosus. Slae M, Heshin-Bekenstein M, Simckes A, Heimer G, Engelhard D, Eisenstein EM. Semin Arthritis Rheum. 2014;43(4):508-12. |
| Glomerulonephritis | ||
| Child Craniofacial Abnormalities Females Homo sapiens Intellectual Disability Lupus Erythematosus, Systemic Sex Chromosome Aberrations | ||
| 5 (4.0%) |
3041908 |
[The 48,XXXX syndrome: study of psychomotor development from birth to 11 years of age and review of the literature]. Plauchu H, Ollagnon-Roman E, Armand JP, Robert JM. Ann Genet. 1988;31(2):105-10. |
| Hypertelorism | ||
| Child Females Homo sapiens Intellectual Disability Psychomotor Performance Sex Chromatin Sex Chromosome Aberrations |
Total: 17
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000164 | Abnormality of the dentition | Frequent (79-30%) |
| HP:0000286 | Epicanthus | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000582 | Upslanted palpebral fissure | Frequent (79-30%) |
| HP:0001252 | Muscular hypotonia | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0001328 | Specific learning disability | Frequent (79-30%) |
| HP:0002974 | Radioulnar synostosis | Frequent (79-30%) |
| HP:0005692 | Joint hyperflexibility | Frequent (79-30%) |
| HP:0100543 | Cognitive impairment | Frequent (79-30%) |
| HP:0001156 | Brachydactyly | Occasional (29-5%) |
| HP:0001385 | Hip dysplasia | Occasional (29-5%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Occasional (29-5%) |
| HP:0004209 | Clinodactyly of the 5th finger | Occasional (29-5%) |
| HP:0010978 | Abnormality of immune system physiology | Occasional (29-5%) |
| HP:0100805 | obsolete Precocious menopause | Occasional (29-5%) |
Total: 5
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000939 | Osteoporosis | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001945 | Fever | 1 |
| HP:0008209 | Premature ovarian insufficiency | 1 |
| HP:0100786 | Hypersomnia | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|