| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (57.4%) |
16353244 |
Familial complex 3q;10q rearrangement unraveled by subtelomeric FISH analysis. Battaglia A, Novelli A, Ceccarini C, Carey JC. Am J Med Genet A. 2006;140(2):144-50. |
| Microcephaly Prominent nose Thick eyebrow Brachydactyly | ||
| Adult Child Child, Preschool Chromosomes, Human, Pair 10 Chromosomes, Human, Pair 3 Females Fluorescent in Situ Hybridization Homo sapiens Intellectual Disability Male | ||
| 2 (48.8%) |
30263904 (6153526) |
A Case With 4 de Novo Copy Number Variations With Clinical Features That Overlap 1q43q44 Microdeletion and 3q29 Microduplication Syndromes. Kessi M, Peng J, Yang L, Duan H, Tang Y, Yin F. Child Neurol Open. 2018;5:2329048X18798200. |
| Microcephaly Clinodactyly | ||
| HNRNPU | ||
| 3 (39.0%) |
29501613 |
3q29 microduplication syndrome: Description of two new cases and delineation of the minimal critical region. Tassano E, Uccella S, Giacomini T, Severino M, Siri L, Gherzi M, Celle ME, Porta S, Gimelli G, Ronchetto P. Eur J Med Genet. 2018;61(8):428-433. |
| Microcephaly | ||
| 3-Hydroxybutyrate Dehydrogenase Adaptor Proteins, Signal Transducing Child Chromosomal Duplication Discs Large Homolog 1 Protein Females Gray Matter Homo sapiens Male Membrane Proteins Transferrin Receptor | ||
| 4 (4.0%) |
24838842 |
Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome. Fernandez-Jaen A, Castellanos Mdel C, Fernandez-Perrone AL, Fernandez-Mayoralas DM, de la Vega AG, Calleja-Perez B, Fernandez EC, Albert J, Hombre MC. Am J Med Genet A. 2014;164A(8):2043-7. |
| Intellectual disability | ||
| BDH1 DLG1 FBXO45 PAK2 | ||
| Brain Cerebral Palsy Child Chromosomal Duplication Epilepsy Females Homo sapiens Intellectual Disability Magnetic Resonance Imaging Phenotype |
Total: 30
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000164 | Abnormality of the dentition | Frequent (79-30%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000494 | Downslanted palpebral fissures | Frequent (79-30%) |
| HP:0001249 | Intellectual disability | Frequent (79-30%) |
| HP:0001252 | Muscular hypotonia | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0001513 | Obesity | Frequent (79-30%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000218 | High palate | Occasional (29-5%) |
| HP:0000239 | Large fontanelles | Occasional (29-5%) |
| HP:0000256 | Macrocephaly | Occasional (29-5%) |
| HP:0000348 | High forehead | Occasional (29-5%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0000369 | Low-set ears | Occasional (29-5%) |
| HP:0000431 | Wide nasal bridge | Occasional (29-5%) |
| HP:0000470 | Short neck | Occasional (29-5%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0000526 | Aniridia | Occasional (29-5%) |
| HP:0000568 | Microphthalmia | Occasional (29-5%) |
| HP:0000612 | Iris coloboma | Occasional (29-5%) |
| HP:0000647 | Sclerocornea | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001363 | Craniosynostosis | Occasional (29-5%) |
| HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
| HP:0001770 | Toe syndactyly | Occasional (29-5%) |
| HP:0001836 | Camptodactyly of toe | Occasional (29-5%) |
| HP:0001852 | Sandal gap | Occasional (29-5%) |
| HP:0002002 | Deep philtrum | Occasional (29-5%) |
| HP:0004397 | Ectopic anus | Occasional (29-5%) |
| HP:0004422 | Biparietal narrowing | Occasional (29-5%) |
Total: 3
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001249 | Intellectual disability | 3 |
| HP:0000252 | Microcephaly | 2 |
| HP:0100021 | Cerebral palsy | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|