| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (39.0%) |
23072189 |
Concurrence of inv(7)(q11.2q32) and del(8)(p23.1) in a girl with congenital microcephaly, hypotonia, developmental delay, strabismus, hypernatremia, hypermagnesemia and deafness. Mahjoubi F, Nasiri F, Razazian F. Genet Couns. 2012;23(3):397-404. |
| Congenital microcephaly | ||
| Chromosome Deletion Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 8 Deafness Developmental Disabilities Females Homo sapiens Hypernatremia Infant Microcephaly | ||
| 1 (39.0%) |
10521847 |
Prenatal detection and mapping of a distal 8p deletion associated with congenital heart disease. Bhatia SN, Suri V, Bundy A, Krauss CM. Prenat Diagn. 1999;19(9):863-7. |
| Microcephaly | ||
| GATA4 MCPH1 | ||
| Adult Chromosome Deletion Chromosome Mapping Chromosomes, Human, Pair 8 Congenital Heart Defects Females Fluorescent in Situ Hybridization Homo sapiens Pregnancy Ultrasonography, Prenatal | ||
| 3 (4.0%) |
27343326 |
Molecular cytogenetic characterization of inv dup del(8p) in a fetus associated with ventriculomegaly, hypoplastic left heart, polyhydramnios and intestinal obstruction. Chen CP, Ko TM, Huang WC, Chern SR, Wu PS, Chen YN, Chen SW, Lee CC, Pan CW, Yang CW, Wang W. Taiwan J Obstet Gynecol. 2016;55(3):415-8. |
| Polyhydramnios | ||
| GATA4 INVS SOX7 | ||
| Chromosomal Duplication Chromosome Deletion Chromosomes, Human, Pair 8 Females Homo sapiens Hydrocephalus Hypoplastic Left Heart Syndrome Infant, Newborn Intestinal Obstruction Polyhydramnios Pregnancy Ultrasonography, Prenatal Young Adult | ||
| 3 (4.0%) |
1511976 |
Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation. Pettenati MJ, Rao N, Johnson C, Hayworth R, Crandall K, Huff O, Thomas IT. Hum Genet. 1992;89(6):602-6. |
| Seizure | ||
| F7 | ||
| Adult Child Chromosome Deletion Chromosomes, Human, Pair 8 Females Homo sapiens Intellectual Disability Male Phenotype Seizures |
Total: 49
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001256 | Intellectual disability, mild | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001511 | Intrauterine growth retardation | Very frequent (99-80%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000047 | Hypospadias | Frequent (79-30%) |
| HP:0000218 | High palate | Frequent (79-30%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000286 | Epicanthus | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000348 | High forehead | Frequent (79-30%) |
| HP:0000369 | Low-set ears | Frequent (79-30%) |
| HP:0000431 | Wide nasal bridge | Frequent (79-30%) |
| HP:0000470 | Short neck | Frequent (79-30%) |
| HP:0000708 | Behavioral abnormality | Frequent (79-30%) |
| HP:0001182 | Tapered finger | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0001510 | Growth delay | Frequent (79-30%) |
| HP:0001671 | Abnormal cardiac septum morphology | Frequent (79-30%) |
| HP:0001824 | Weight loss | Frequent (79-30%) |
| HP:0002465 | Poor speech | Frequent (79-30%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Frequent (79-30%) |
| HP:0003196 | Short nose | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0004415 | Pulmonary artery stenosis | Frequent (79-30%) |
| HP:0004422 | Biparietal narrowing | Frequent (79-30%) |
| HP:0006610 | Wide intermamillary distance | Frequent (79-30%) |
| HP:0006695 | Atrioventricular canal defect | Frequent (79-30%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Frequent (79-30%) |
| HP:0008572 | External ear malformation | Frequent (79-30%) |
| HP:0100625 | Enlarged thorax | Frequent (79-30%) |
| HP:0000233 | Thin vermilion border | Occasional (29-5%) |
| HP:0000293 | Full cheeks | Occasional (29-5%) |
| HP:0000426 | Prominent nasal bridge | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000490 | Deeply set eye | Occasional (29-5%) |
| HP:0000494 | Downslanted palpebral fissures | Occasional (29-5%) |
| HP:0000582 | Upslanted palpebral fissure | Occasional (29-5%) |
| HP:0000776 | Congenital diaphragmatic hernia | Occasional (29-5%) |
| HP:0001513 | Obesity | Occasional (29-5%) |
| HP:0001636 | Tetralogy of Fallot | Occasional (29-5%) |
| HP:0001639 | Hypertrophic cardiomyopathy | Occasional (29-5%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (29-5%) |
| HP:0001669 | Transposition of the great arteries | Occasional (29-5%) |
| HP:0001679 | Abnormal aortic morphology | Occasional (29-5%) |
| HP:0001763 | Pes planus | Occasional (29-5%) |
| HP:0004383 | Hypoplastic left heart | Occasional (29-5%) |
| HP:0009623 | Proximal placement of thumb | Occasional (29-5%) |
| HP:0010059 | Broad hallux phalanx | Occasional (29-5%) |
| HP:0011304 | Broad thumb | Occasional (29-5%) |
Total: 3
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002918 | Hypermagnesemia | 1 |
| HP:0003228 | Hypernatremia | 1 |
| HP:0005301 | Persistent left superior vena cava | 1 |