| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (48.8%) |
24214579 |
Hemiconvulsion-hemiplegia-epilepsy syndrome with 1q44 microdeletion: causal or chance association. Gupta R, Agarwal M, Boqqula VR, Phadke RV, Phadke SR. Am J Med Genet A. 2014;164A(1):186-9. |
| Microcephaly Preaxial polydactyly | ||
| COX20 HNRNPU SHH | ||
| Brain Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 1 Congenital Foot Deformity Epilepsy Facies Females Hemiplegia Homo sapiens Magnetic Resonance Imaging Phenotype Seizures Syndrome | ||
| 2 (4.0%) |
9856570 |
Association of terminal chromosome 1 deletion with sertoli cell-only syndrome. Hathout EH, Thompson K, Baum M, Dumars KW. Am J Med Genet. 1998;80(4):396-8. |
| Cryptorchidism | ||
| Adult Chromosome Deletion Chromosomes, Human, Pair 1 Developmental Disabilities Homo sapiens Male Syndrome |
Total: 33
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000233 | Thin vermilion border | Very frequent (99-80%) |
| HP:0000750 | Delayed speech and language development | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001274 | Agenesis of corpus callosum | Very frequent (99-80%) |
| HP:0002069 | Generalized tonic-clonic seizures | Very frequent (99-80%) |
| HP:0002263 | Exaggerated cupid's bow | Very frequent (99-80%) |
| HP:0010864 | Intellectual disability, severe | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000286 | Epicanthus | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000319 | Smooth philtrum | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000506 | Telecanthus | Frequent (79-30%) |
| HP:0000582 | Upslanted palpebral fissure | Frequent (79-30%) |
| HP:0001510 | Growth delay | Frequent (79-30%) |
| HP:0001671 | Abnormal cardiac septum morphology | Frequent (79-30%) |
| HP:0002119 | Ventriculomegaly | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0000076 | Vesicoureteral reflux | Occasional (29-5%) |
| HP:0000085 | Horseshoe kidney | Occasional (29-5%) |
| HP:0000218 | High palate | Occasional (29-5%) |
| HP:0000238 | Hydrocephalus | Occasional (29-5%) |
| HP:0000348 | High forehead | Occasional (29-5%) |
| HP:0000384 | Preauricular skin tag | Occasional (29-5%) |
| HP:0000664 | Synophrys | Occasional (29-5%) |
| HP:0002007 | Frontal bossing | Occasional (29-5%) |
| HP:0002566 | Intestinal malrotation | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0004422 | Biparietal narrowing | Occasional (29-5%) |
| HP:0005487 | Prominent metopic ridge | Occasional (29-5%) |
| HP:0007766 | Optic disc hypoplasia | Occasional (29-5%) |
Total: 2
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000028 | Cryptorchidism | 1 |
| HP:0001250 | Seizures | 1 |