| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (4.0%) |
12673638 |
Fetoplacental discrepancy involving structural abnormalities of chromosome 8 detected by prenatal diagnosis. Soler A, Sanchez A, Carrio A, Badenas C, Mila M, Borrell A. Prenat Diagn. 2003;23(4):319-22. |
| Hydrocephalus | ||
| ENDOU PTGES3 | ||
| Abortion, Eugenic Adult Chorionic Villi Sampling Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 8 Females Fluorescent in Situ Hybridization High-Risk Pregnancy Homo sapiens Male Maternal Age Models, Genetic Mosaicism Pregnancy Short Tandem Repeat |
Total: 36
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000028 | Cryptorchidism | Very frequent (99-80%) |
| HP:0000044 | Hypogonadotrophic hypogonadism | Very frequent (99-80%) |
| HP:0000135 | Hypogonadism | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001878 | Hemolytic anemia | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0004444 | Spherocytosis | Very frequent (99-80%) |
| HP:0008736 | Hypoplasia of penis | Very frequent (99-80%) |
| HP:0000027 | Azoospermia | Frequent (79-30%) |
| HP:0000218 | High palate | Frequent (79-30%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000639 | Nystagmus | Frequent (79-30%) |
| HP:0004467 | Preauricular pit | Frequent (79-30%) |
| HP:0008572 | External ear malformation | Frequent (79-30%) |
| HP:0000286 | Epicanthus | Occasional (29-5%) |
| HP:0000316 | Hypertelorism | Occasional (29-5%) |
| HP:0000458 | Anosmia | Occasional (29-5%) |
| HP:0000482 | Microcornea | Occasional (29-5%) |
| HP:0000556 | Retinal dystrophy | Occasional (29-5%) |
| HP:0000581 | Blepharophimosis | Occasional (29-5%) |
| HP:0000582 | Upslanted palpebral fissure | Occasional (29-5%) |
| HP:0000612 | Iris coloboma | Occasional (29-5%) |
| HP:0000960 | Sacral dimple | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001510 | Growth delay | Occasional (29-5%) |
| HP:0001631 | Atrial septal defect | Occasional (29-5%) |
| HP:0001634 | Mitral valve prolapse | Occasional (29-5%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (29-5%) |
| HP:0001744 | Splenomegaly | Occasional (29-5%) |
| HP:0001762 | Talipes equinovarus | Occasional (29-5%) |
| HP:0005280 | Depressed nasal bridge | Occasional (29-5%) |
| HP:0005815 | Supernumerary ribs | Occasional (29-5%) |
| HP:0011968 | Feeding difficulties | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|