| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (60.6%) |
16114049 |
Detection of an unexpected subtelomeric 15q26.2 --> qter deletion in a little girl: clinical and cytogenetic studies. Pinson L, Perrin A, Plouzennec C, Parent P, Metz C, Collet M, Le Bris MJ, Douet-Guilbert N, Morel F, De Braekeleer M. Am J Med Genet A. 2005;138A(2):160-5. |
| Micrognathia Brachydactyly | ||
| Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 15 Females Fingers Fluorescent in Situ Hybridization Growth Disorders Homo sapiens Neck | ||
| 2 (47.6%) |
11754068 |
Congenital glaucoma and Silver-Russell phenotype associated with partial trisomy 7q and monosomy 15q. Kato R, Kishibayashi J, Shimokawa O, Harada N, Niikawa N, Matsumoto N. Am J Med Genet. 2001;104(4):319-22. |
| Triangular face Clinodactyly | ||
| IGF1R | ||
| Adult Chromosome Banding Chromosomes, Human, Pair 15 Chromosomes, Human, Pair 7 Fluorescent in Situ Hybridization Glaucoma Growth Disorders Homo sapiens Male Monosomy Phenotype Trisomy | ||
| 3 (31.0%) |
10528246 |
Trisomy 2p syndrome: a fetus with anencephaly and postaxial polydactyly. Hahm GK, Barth RF, Schauer GM, Reiss R, Opitz JM. Am J Med Genet. 1999;87(1):45-8. |
| Anencephaly Polydactyly | ||
| Abortion, Eugenic Anencephaly Chromosomes, Human, Pair 2 Fatal Outcome Females Fetal Death Fetus Fluorescent in Situ Hybridization Gestational Age Homo sapiens Male Polydactyly Pregnancy Syndrome Trisomy | ||
| 4 (23.3%) |
9885021 |
Partial trisomy 8q and partial monosomy 15q associated with congenital hydrocephalus, diaphragmatic hernia, urinary tract anomalies, congenital heart defect and kyphoscoliosis. Chen CP, Lee CC, Pan CW, Kir TY, Chen BF. Prenat Diagn. 1998;18(12):1289-93. |
| Horseshoe kidney Kyphoscoliosis | ||
| Adult Chromosomes, Human, Pair 15 Chromosomes, Human, Pair 8 Congenital Heart Defects Females Fetal Growth Retardation Homo sapiens Hydrocephalus Male Monosomy Pregnancy Trisomy Ultrasonography, Prenatal Urologic Diseases | ||
| 5 (4.0%) |
12872810 |
Recurrent neural tube defects associated with partial trisomy 2p22-pter: report of two siblings and review of the literature. Doray B, Favre R, Gasser B, Girard-Lemaire F, Schluth C, Flori E. Genet Couns. 2003;14(2):165-72. |
| Anencephaly | ||
| Anencephaly Chorionic Villi Sampling Chromosomes, Human, Pair 15 Chromosomes, Human, Pair 2 Fatal Outcome Females Homo sapiens Monosomy Neural Tube Defects Pregnancy Pregnancy Complications Sibling Trisomy Ultrasonography |
Total: 60
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001511 | Intrauterine growth retardation | Very frequent (99-80%) |
| HP:0001518 | Small for gestational age | Very frequent (99-80%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000047 | Hypospadias | Frequent (79-30%) |
| HP:0000054 | Micropenis | Frequent (79-30%) |
| HP:0000164 | Abnormality of the dentition | Frequent (79-30%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000219 | Thin upper lip vermilion | Frequent (79-30%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000280 | Coarse facial features | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000322 | Short philtrum | Frequent (79-30%) |
| HP:0000325 | Triangular face | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000365 | Hearing impairment | Frequent (79-30%) |
| HP:0000369 | Low-set ears | Frequent (79-30%) |
| HP:0000455 | Broad nasal tip | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000581 | Blepharophimosis | Frequent (79-30%) |
| HP:0000582 | Upslanted palpebral fissure | Frequent (79-30%) |
| HP:0000729 | Autistic behavior | Frequent (79-30%) |
| HP:0000750 | Delayed speech and language development | Frequent (79-30%) |
| HP:0000776 | Congenital diaphragmatic hernia | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0001508 | Failure to thrive | Frequent (79-30%) |
| HP:0001510 | Growth delay | Frequent (79-30%) |
| HP:0001647 | Bicuspid aortic valve | Frequent (79-30%) |
| HP:0001680 | Coarctation of aorta | Frequent (79-30%) |
| HP:0001718 | Mitral stenosis | Frequent (79-30%) |
| HP:0001762 | Talipes equinovarus | Frequent (79-30%) |
| HP:0001792 | Small nail | Frequent (79-30%) |
| HP:0002089 | Pulmonary hypoplasia | Frequent (79-30%) |
| HP:0002761 | Generalized joint laxity | Frequent (79-30%) |
| HP:0002827 | Hip dislocation | Frequent (79-30%) |
| HP:0002857 | Genu valgum | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0004760 | obsolete Congenital septal defect | Frequent (79-30%) |
| HP:0005469 | Flat occiput | Frequent (79-30%) |
| HP:0005709 | 2-3 toe cutaneous syndactyly | Frequent (79-30%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Frequent (79-30%) |
| HP:0008897 | Postnatal growth retardation | Frequent (79-30%) |
| HP:0009381 | Short finger | Frequent (79-30%) |
| HP:0009882 | Short distal phalanx of finger | Frequent (79-30%) |
| HP:0010297 | Bifid tongue | Frequent (79-30%) |
| HP:0012303 | Abnormal aortic arch morphology | Frequent (79-30%) |
| HP:0030353 | Decreased serum insulin-like growth factor 1 | Frequent (79-30%) |
| HP:0030918 | Low 1-minute APGAR score | Frequent (79-30%) |
| HP:0040019 | Finger clinodactyly | Frequent (79-30%) |
| HP:0200055 | Small hand | Frequent (79-30%) |
| HP:0000003 | Multicystic kidney dysplasia | Occasional (29-5%) |
| HP:0000476 | Cystic hygroma | Occasional (29-5%) |
| HP:0000954 | Single transverse palmar crease | Occasional (29-5%) |
| HP:0001195 | Single umbilical artery | Occasional (29-5%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (29-5%) |
| HP:0004383 | Hypoplastic left heart | Occasional (29-5%) |
| HP:0004471 | Aplasia cutis congenita over the scalp vertex | Occasional (29-5%) |
| HP:0011560 | Mitral atresia | Occasional (29-5%) |
| HP:0011651 | Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis | Occasional (29-5%) |
| HP:0100542 | Abnormal localization of kidney | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|