| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (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 |
Total: 56
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000154 | Wide mouth | Very frequent (99-80%) |
| HP:0000232 | Everted lower lip vermilion | Very frequent (99-80%) |
| HP:0000400 | Macrotia | Very frequent (99-80%) |
| HP:0000463 | Anteverted nares | Very frequent (99-80%) |
| HP:0000750 | Delayed speech and language development | Very frequent (99-80%) |
| HP:0000767 | Pectus excavatum | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001256 | Intellectual disability, mild | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001276 | Hypertonia | Very frequent (99-80%) |
| HP:0001999 | Abnormal facial shape | Very frequent (99-80%) |
| HP:0002292 | Frontal balding | Very frequent (99-80%) |
| HP:0002510 | Spastic tetraplegia | Very frequent (99-80%) |
| HP:0002916 | Abnormality of chromosome segregation | Very frequent (99-80%) |
| HP:0008947 | Infantile muscular hypotonia | Very frequent (99-80%) |
| HP:0010864 | Intellectual disability, severe | Very frequent (99-80%) |
| HP:0011220 | Prominent forehead | Very frequent (99-80%) |
| HP:0011344 | Severe global developmental delay | Very frequent (99-80%) |
| HP:0000079 | Abnormality of the urinary system | Frequent (79-30%) |
| HP:0000311 | Round face | Frequent (79-30%) |
| HP:0000343 | Long philtrum | Frequent (79-30%) |
| HP:0000431 | Wide nasal bridge | Frequent (79-30%) |
| HP:0000478 | Abnormality of the eye | Frequent (79-30%) |
| HP:0000717 | Autism | Frequent (79-30%) |
| HP:0000729 | Autistic behavior | Frequent (79-30%) |
| HP:0001274 | Agenesis of corpus callosum | Frequent (79-30%) |
| HP:0001627 | Abnormal heart morphology | Frequent (79-30%) |
| HP:0004209 | Clinodactyly of the 5th finger | Frequent (79-30%) |
| HP:0005656 | Positional foot deformity | Frequent (79-30%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Frequent (79-30%) |
| HP:0007020 | Progressive spastic paraplegia | Frequent (79-30%) |
| HP:0100710 | Impulsivity | Frequent (79-30%) |
| HP:0100807 | Long fingers | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000054 | Micropenis | Occasional (29-5%) |
| HP:0000126 | Hydronephrosis | Occasional (29-5%) |
| HP:0000278 | Retrognathia | Occasional (29-5%) |
| HP:0000316 | Hypertelorism | Occasional (29-5%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0000384 | Preauricular skin tag | Occasional (29-5%) |
| HP:0000470 | Short neck | Occasional (29-5%) |
| HP:0000592 | Blue sclerae | Occasional (29-5%) |
| HP:0000664 | Synophrys | Occasional (29-5%) |
| HP:0000826 | Precocious puberty | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001305 | Dandy-Walker malformation | Occasional (29-5%) |
| HP:0001321 | Cerebellar hypoplasia | Occasional (29-5%) |
| HP:0001636 | Tetralogy of Fallot | Occasional (29-5%) |
| HP:0001651 | Dextrocardia | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002705 | High, narrow palate | Occasional (29-5%) |
| HP:0002827 | Hip dislocation | Occasional (29-5%) |
| HP:0005781 | Contractures of the large joints | Occasional (29-5%) |
| HP:0006292 | Abnormality of dental eruption | Occasional (29-5%) |
| HP:0010487 | Small hypothenar eminence | Occasional (29-5%) |
| HP:0011466 | Aplasia/Hypoplasia of the gallbladder | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|