| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (39.0%) |
20141352 |
Ophthalmologic abnormalities in a de novo terminal 6q deletion. Abu-Amero KK, Hellani A, Salih MA, Al Hussain A, al Obailan M, Zidan G, Alorainy IA, Bosley TM. Ophthalmic Genet. 2010;31(1):1-11. |
| Microcephaly | ||
| TBP | ||
| Chromosome Deletion Chromosomes, Human, Pair 6 Cornea Corneal Topography Eye Abnormalities Genotype Homo sapiens Intellectual Disability Magnetic Resonance Imaging Male Microcephaly Myopia Phenotype Seizures | ||
| 2 (37.2%) |
20082458 |
Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome. Backx L, Fryns JP, Marcelis C, Devriendt K, Vermeesch J, Van Esch H. Am J Med Genet A. 2010;152A(2):319-26. |
| Short neck | ||
| QKI | ||
| Adult Chromosome Deletion Chromosomes, Human, Pair 6 DNA Mutational Analysis Females Fluorescent in Situ Hybridization Homo sapiens Male Phenotype RNA-Binding Proteins Syndrome | ||
| 2 (37.2%) |
18947005 |
Terminal deletion of chromosome 6q. Su PH, Chen JY, Chen SJ, Yang KC. Pediatr Neonatol. 2008;49(3):88-93. |
| Short neck | ||
| Chromosome Deletion Chromosomes, Human, Pair 6 Females Growth Disorders Homo sapiens Human Growth Hormone Intellectual Disability Microcephaly | ||
| 2 (37.2%) |
16329114 |
Isolated 6q terminal deletions: an emerging new syndrome. Bertini V, De Vito G, Costa R, Simi P, Valetto A. Am J Med Genet A. 2006;140(1):74-81. |
| Short neck | ||
| FRA6E PRPF31 | ||
| Child Child, Preschool Chromosome Banding Chromosome Breakage Chromosome Deletion Chromosomes, Human, Pair 6 Fluorescent in Situ Hybridization Homo sapiens Loss of Heterozygosity Male Phenotype Syndrome | ||
| 5 (4.0%) |
16686647 |
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases. Elia M, Striano P, Fichera M, Gaggero R, Castiglia L, Galesi O, Malacarne M, Pierluigi M, Amato C, Musumeci SA, Romano C, Majore S, Grammatico P, Zara F, Striano S, Faravelli F. Epilepsia. 2006;47(5):830-8. |
| Cyanosis | ||
| Adult Brain Brain Stem Child Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 6 Electroencephalography Epilepsy Females Fluorescent in Situ Hybridization Homo sapiens Intellectual Disability Magnetic Resonance Imaging Male Neurologic Examination Seizures Sleep Syndrome |
Total: 49
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000294 | Low anterior hairline | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Very frequent (99-80%) |
| HP:0000486 | Strabismus | Very frequent (99-80%) |
| HP:0000750 | Delayed speech and language development | Very frequent (99-80%) |
| HP:0001250 | Seizures | Very frequent (99-80%) |
| HP:0001256 | Intellectual disability, mild | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001321 | Cerebellar hypoplasia | Very frequent (99-80%) |
| HP:0001508 | Failure to thrive | Very frequent (99-80%) |
| HP:0001999 | Abnormal facial shape | Very frequent (99-80%) |
| HP:0002079 | Hypoplasia of the corpus callosum | Very frequent (99-80%) |
| HP:0002126 | Polymicrogyria | Very frequent (99-80%) |
| HP:0002269 | Abnormality of neuronal migration | Very frequent (99-80%) |
| HP:0002282 | Gray matter heterotopia | Very frequent (99-80%) |
| HP:0002500 | Abnormality of the cerebral white matter | Very frequent (99-80%) |
| HP:0002521 | Hypsarrhythmia | Very frequent (99-80%) |
| HP:0002538 | Abnormality of the cerebral cortex | Very frequent (99-80%) |
| HP:0002705 | High, narrow palate | Very frequent (99-80%) |
| HP:0007165 | Periventricular heterotopia | Very frequent (99-80%) |
| HP:0008947 | Infantile muscular hypotonia | Very frequent (99-80%) |
| HP:0030048 | Colpocephaly | Very frequent (99-80%) |
| HP:0000540 | Hypermetropia | Frequent (79-30%) |
| HP:0000639 | Nystagmus | Frequent (79-30%) |
| HP:0001310 | Dysmetria | Frequent (79-30%) |
| HP:0001388 | Joint laxity | Frequent (79-30%) |
| HP:0002066 | Gait ataxia | Frequent (79-30%) |
| HP:0012471 | Thick vermilion border | Frequent (79-30%) |
| HP:0000047 | Hypospadias | Occasional (29-5%) |
| HP:0000256 | Macrocephaly | Occasional (29-5%) |
| HP:0000268 | Dolichocephaly | Occasional (29-5%) |
| HP:0000289 | Broad philtrum | Occasional (29-5%) |
| HP:0000470 | Short neck | Occasional (29-5%) |
| HP:0000771 | Gynecomastia | Occasional (29-5%) |
| HP:0000962 | Hyperkeratosis | Occasional (29-5%) |
| HP:0001357 | Plagiocephaly | Occasional (29-5%) |
| HP:0001513 | Obesity | Occasional (29-5%) |
| HP:0001741 | Phimosis | Occasional (29-5%) |
| HP:0001822 | Hallux valgus | Occasional (29-5%) |
| HP:0001884 | Talipes calcaneovalgus | Occasional (29-5%) |
| HP:0002553 | Highly arched eyebrow | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0005487 | Prominent metopic ridge | Occasional (29-5%) |
| HP:0006610 | Wide intermamillary distance | Occasional (29-5%) |
| HP:0006712 | Aplasia/Hypoplasia of the ribs | Occasional (29-5%) |
| HP:0011220 | Prominent forehead | Occasional (29-5%) |
| HP:0012745 | Short palpebral fissure | Occasional (29-5%) |
| HP:0030084 | Clinodactyly | Occasional (29-5%) |
Total: 4
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000470 | Short neck | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0025356 | Psychomotor retardation | 1 |