| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (41.8%) |
23716947 (3656528) |
A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation. Mutesa L, Jamar M, Hellin AC, Pierquin G, Bours V. Indian J Hum Genet. 2012;18(3):352-5. |
| Scoliosis Radioulnar synostosis | ||
| 2 (39.7%) |
10649807 |
Radioulnar synostosis and XYY syndrome. Franceschini P, Licata D, Guala A, Di Cara G, Franceschini D. Clin Dysmorphol. 2000;9(1):77. |
| Radioulnar synostosis | ||
| Child, Preschool Homo sapiens Male Syndrome XYY Karyotype | ||
| 3 (39.0%) |
19487143 |
47 XYY and morning glory syndrome--a unique association. Chew FL, Visvaraja S. J AAPOS. 2009;13(4):406-7. |
| Meningoencephalocele | ||
| Acrocallosal Syndrome Child Eye Abnormalities Homo sapiens Magnetic Resonance Imaging Male Nose Optic Disk Syndrome XYY Karyotype | ||
| 4 (35.3%) |
15832105 |
Short stature, type E brachydactyly, exostoses, gynecomastia, and cryptorchidism in a patient with 47,XYY/45,X/46,XY mosaicism. Monastirli A, Stephanou G, Georgiou S, Andrianopoulos C, Pasmatzi E, Chroni E, Katrivanou A, Dimopoulos P, Demopoulos NA, Tsambaos D. Am J Med Sci. 2005;329(4):208-10. |
| Cryptorchidism Type E brachydactyly | ||
| Body Height Congenital Hand Deformities Cryptorchidism Exostoses Gynecomastia Homo sapiens Male Mosaicism Nondisjunction, Genetic Sex Chromosome Aberrations Sex Chromosome Disorders XYY Karyotype | ||
| 4 (35.3%) |
1342873 |
Disproportionate short stature, type E brachydactyly and exostoses of tibiae in a patient with an XYY karyotype. A 'new' syndrome? Ikegawa S, Nagano A, Kurokawa T. Clin Dysmorphol. 1992;1(4):217-9. |
| Tall stature Type E brachydactyly | ||
| Body Height Congenital Hand Deformities Exostoses Homo sapiens Male Syndrome XYY Karyotype | ||
| 6 (27.8%) |
26381641 |
Oral, physical, and behavioral aspects of patient with chromosome 47, XYY syndrome. Scheidt L, Sanabe ME, Diniz MB. J Indian Soc Pedod Prev Dent. 2015;33(4):347-50. |
| Tall stature Macrodontia | ||
| Child Homo sapiens Male Panoramic Radiography Sex Chromosome Disorders Tooth Abnormalities XYY Karyotype | ||
| 7 (24.9%) |
17177029 |
Spontaneous resolution of cystic hygroma in 47,XYY fetus. Phupong V, Sittisomwong T. Arch Gynecol Obstet. 2007;276(1):77-80. |
| Tall stature Cystic hygroma | ||
| Adult Amniocentesis Females Head and Neck Neoplasms Homo sapiens Infant, Newborn Lymphangioma, Cystic Male Pregnancy Ultrasonography, Prenatal XYY Karyotype | ||
| 8 (17.5%) |
15558888 |
Myotonic dystrophy associated with 47 XYY syndrome. Asano A, Motomura N, Yokota S, Yoneda H, Sakai T, Tsutsumi S. Psychiatry Clin Neurosci. 2000;54(1):113-6. |
| Tall stature Myotonia | ||
| Adult Homo sapiens Male Muscle Weakness Myotonic Dystrophy Sex Chromosome Aberrations | ||
| 8 (17.5%) |
1628442 |
[XYY syndrome associated with motor neuropathy]. Nishiyama K, Okazawa H, Shimizu J, Takeda K, Sakuta M. Rinsho Shinkeigaku. 1992;32(1):81-3. |
| Muscle weakness | ||
| Adult Homo sapiens Male Motor Neuron Disease Syndrome XYY Karyotype | ||
| 10 (4.0%) |
28928975 (5597878) |
A unique association of Noonan syndrome and 47,XYY syndrome in a male presenting with failure to thrive. Bellfield EJ, Shad Z. Oxf Med Case Reports. 2017;2017(9):omx032. |
| Cryptorchidism | ||
| PTPN11 SHOX | ||
Total: 34
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000098 | Tall stature | Very frequent (99-80%) |
| HP:0000272 | Malar flattening | Very frequent (99-80%) |
| HP:0000369 | Low-set ears | Very frequent (99-80%) |
| HP:0000750 | Delayed speech and language development | Very frequent (99-80%) |
| HP:0001270 | Motor delay | Very frequent (99-80%) |
| HP:0000256 | Macrocephaly | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000708 | Behavioral abnormality | Frequent (79-30%) |
| HP:0000735 | Impaired social interactions | Frequent (79-30%) |
| HP:0000752 | Hyperactivity | Frequent (79-30%) |
| HP:0001249 | Intellectual disability | Frequent (79-30%) |
| HP:0001319 | Neonatal hypotonia | Frequent (79-30%) |
| HP:0001328 | Specific learning disability | Frequent (79-30%) |
| HP:0002099 | Asthma | Frequent (79-30%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Frequent (79-30%) |
| HP:0007642 | Congenital stationary night blindness | Frequent (79-30%) |
| HP:0040019 | Finger clinodactyly | Frequent (79-30%) |
| HP:0100710 | Impulsivity | Frequent (79-30%) |
| HP:0000027 | Azoospermia | Occasional (29-5%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000047 | Hypospadias | Occasional (29-5%) |
| HP:0000053 | Macroorchidism | Occasional (29-5%) |
| HP:0000054 | Micropenis | Occasional (29-5%) |
| HP:0000238 | Hydrocephalus | Occasional (29-5%) |
| HP:0000729 | Autistic behavior | Occasional (29-5%) |
| HP:0000798 | Oligospermia | Occasional (29-5%) |
| HP:0000837 | Increased circulating gonadotropin level | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0002195 | Dysgenesis of the cerebellar vermis | Occasional (29-5%) |
| HP:0002363 | Abnormality of brainstem morphology | Occasional (29-5%) |
| HP:0003251 | Male infertility | Occasional (29-5%) |
| HP:0007033 | Cerebellar dysplasia | Occasional (29-5%) |
| HP:0012871 | Varicocele | Occasional (29-5%) |
| HP:0030088 | Increased serum testosterone level | Occasional (29-5%) |
Total: 14
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000098 | Tall stature | 2 |
| HP:0000083 | Renal insufficiency | 1 |
| HP:0000709 | Psychosis | 1 |
| HP:0000717 | Autism | 1 |
| HP:0001288 | Gait disturbance | 1 |
| HP:0001508 | Failure to thrive | 1 |
| HP:0001909 | Leukemia | 1 |
| HP:0002974 | Radioulnar synostosis | 1 |
| HP:0003251 | Male infertility | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0007018 | Attention deficit hyperactivity disorder | 1 |
| HP:0010865 | Oppositional defiant disorder | 1 |
| HP:0011003 | High myopia | 1 |
| HP:0011530 | Retinal hole | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|