| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (48.8%) |
26185628 (4498842) |
2q31.1 microdeletion syndrome: case report and literature review. Puvabanditsin S, February M, Shaik T, Kashyap A, Bruno C, Mehta R. Clin Case Rep. 2015;3(6):357-60. |
| Microcephaly Rocker bottom foot Clinodactyly | ||
| 2 (35.3%) |
21068127 |
2q31.1 microdeletion syndrome: redefining the associated clinical phenotype. Dimitrov B, Balikova I, de Ravel T, Van Esch H, De Smedt M, Baten E, Vermeesch JR, Bradinova I, Simeonov E, Devriendt K, Fryns JP, Debeer P. J Med Genet. 2011;48(2):98-104. |
| Brachydactyly | ||
| DLX1 DLX2 EVX2 HOXD13 SHFM5 | ||
| Bacterial Artificial Chromosomes Chromosome Deletion Chromosomes, Human, Pair 2 Females Fluorescent in Situ Hybridization Hemizygote Homeodomain Proteins Homo sapiens Infant, Newborn Limb Deformities, Congenital Male Phenotype Syndrome | ||
| 3 (4.0%) |
23324827 (3991122) |
Genetic and pathologic evolution of early secondary gliosarcoma. Codispoti KE, Mosier S, Ramsey R, Lin MT, Rodriguez FJ. Brain Tumor Pathol. 2014;31(1):40-6. |
| Sarcoma | ||
| CDKN2A IDH1 | ||
| p|SUB|R|132|H;RS#:121913500 | ||
| Brain Neoplasms Chromosome Mapping DNA Copy Number Variations DNA, Neoplasm Disease Progression Homo sapiens Male Middle Aged Neoplasms, Second Primary Oligonucleotide Array Sequence Analysis Single Nucleotide Polymorphism |
Total: 63
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000343 | Long philtrum | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000369 | Low-set ears | Frequent (79-30%) |
| HP:0000414 | Bulbous nose | Frequent (79-30%) |
| HP:0000470 | Short neck | Frequent (79-30%) |
| HP:0000494 | Downslanted palpebral fissures | Frequent (79-30%) |
| HP:0001156 | Brachydactyly | Frequent (79-30%) |
| HP:0001182 | Tapered finger | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0001252 | Muscular hypotonia | Frequent (79-30%) |
| HP:0001595 | Abnormal hair morphology | Frequent (79-30%) |
| HP:0001770 | Toe syndactyly | Frequent (79-30%) |
| HP:0001800 | Hypoplastic toenails | Frequent (79-30%) |
| HP:0001852 | Sandal gap | Frequent (79-30%) |
| HP:0002002 | Deep philtrum | Frequent (79-30%) |
| HP:0002463 | Language impairment | Frequent (79-30%) |
| HP:0002714 | Downturned corners of mouth | Frequent (79-30%) |
| HP:0002750 | Delayed skeletal maturation | Frequent (79-30%) |
| HP:0003422 | Vertebral segmentation defect | Frequent (79-30%) |
| HP:0004209 | Clinodactyly of the 5th finger | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0005487 | Prominent metopic ridge | Frequent (79-30%) |
| HP:0005916 | Abnormal metacarpal morphology | Frequent (79-30%) |
| HP:0010059 | Broad hallux phalanx | Frequent (79-30%) |
| HP:0012745 | Short palpebral fissure | Frequent (79-30%) |
| HP:0100490 | Camptodactyly of finger | Frequent (79-30%) |
| HP:0000023 | Inguinal hernia | Occasional (29-5%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000232 | Everted lower lip vermilion | Occasional (29-5%) |
| HP:0000233 | Thin vermilion border | Occasional (29-5%) |
| HP:0000243 | Trigonocephaly | Occasional (29-5%) |
| HP:0000275 | Narrow face | Occasional (29-5%) |
| HP:0000280 | Coarse facial features | Occasional (29-5%) |
| HP:0000286 | Epicanthus | Occasional (29-5%) |
| HP:0000294 | Low anterior hairline | Occasional (29-5%) |
| HP:0000316 | Hypertelorism | Occasional (29-5%) |
| HP:0000324 | Facial asymmetry | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000508 | Ptosis | Occasional (29-5%) |
| HP:0000520 | Proptosis | Occasional (29-5%) |
| HP:0000568 | Microphthalmia | Occasional (29-5%) |
| HP:0000588 | Optic nerve coloboma | Occasional (29-5%) |
| HP:0000589 | Coloboma | Occasional (29-5%) |
| HP:0000612 | Iris coloboma | Occasional (29-5%) |
| HP:0000664 | Synophrys | Occasional (29-5%) |
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | Occasional (29-5%) |
| HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
| HP:0001631 | Atrial septal defect | Occasional (29-5%) |
| HP:0001773 | Short foot | Occasional (29-5%) |
| HP:0002119 | Ventriculomegaly | Occasional (29-5%) |
| HP:0002120 | Cerebral cortical atrophy | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002808 | Kyphosis | Occasional (29-5%) |
| HP:0002991 | Abnormality of fibula morphology | Occasional (29-5%) |
| HP:0002992 | Abnormality of tibia morphology | Occasional (29-5%) |
| HP:0002997 | Abnormality of the ulna | Occasional (29-5%) |
| HP:0004279 | Short palm | Occasional (29-5%) |
| HP:0006101 | Finger syndactyly | Occasional (29-5%) |
| HP:0100257 | Ectrodactyly | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|