| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (33.7%) |
28811189 |
Early fetal presentation of Koolen-de Vries: Case report with literature review. Sauvestre F, Marguet F, Rooryck C, Vuillaume ML, Cardinaud F, Laquerriere A, Andre G, Pelluard F. Eur J Med Genet. 2017;60(11):605-609. |
| Hydrocephalus Short philtrum | ||
| Adult Chromosome Deletion Chromosomes, Human, Pair 17 Corpus Callosum Females Homo sapiens Intellectual Disability Phenotype Pregnancy Ultrasonography, Prenatal | ||
| 2 (20.4%) |
27852077 |
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review. Ciaccio C, Dordoni C, Ritelli M, Colombi M. Cytogenet Genome Res. 2016;150(1):40-45. |
| Intellectual disability Joint hypermobility | ||
| CRHR1 KANSL1 MAPT SPPL2C STH | ||
| Adult Aging Child Chromosome Deletion Chromosomes, Human, Pair 17 Delayed Diagnosis Developmental Disabilities Diagnostic Errors Ehlers-Danlos Syndrome Epilepsy Females Homo sapiens Intellectual Disability Male Middle Aged Phenotype Young Adult | ||
| 3 (4.0%) |
28211987 |
10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence. Keen C, Samango-Sprouse C, Dubbs H, Zackai EH. Am J Med Genet A. 2017;173(3):762-765. |
| Intellectual disability | ||
| KANSL1 | ||
| Alleles Child Chromosome Deletion Chromosomes, Human, Pair 17 Females Genetic Association Studies Homo sapiens Intellectual Disability Intelligence Mutation Neuropsychological Tests Nuclear Proteins Phenotype Verbal Behavior | ||
| 3 (4.0%) |
26897099 |
17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome. Bernardo P, Madia F, Santulli L, Del Gaudio L, Caccavale C, Zara F, Traverso M, Cirillo M, Striano S, Coppola A. Brain Dev. 2016;38(7):663-8. |
| Intellectual disability | ||
| Brain Chromosome Deletion Chromosomes, Human, Pair 17 Electroencephalography Epilepsy Face Homo sapiens Intellectual Disability Magnetic Resonance Imaging Male Nuclear Proteins Phenotype Receptors, Corticotropin-Releasing Hormone |
Total: 60
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000232 | Everted lower lip vermilion | Very frequent (99-80%) |
| HP:0000276 | Long face | Very frequent (99-80%) |
| HP:0000280 | Coarse facial features | Very frequent (99-80%) |
| HP:0000286 | Epicanthus | Very frequent (99-80%) |
| HP:0000337 | Broad forehead | Very frequent (99-80%) |
| HP:0000348 | High forehead | Very frequent (99-80%) |
| HP:0000396 | Overfolded helix | Very frequent (99-80%) |
| HP:0000411 | Protruding ear | Very frequent (99-80%) |
| HP:0000414 | Bulbous nose | Very frequent (99-80%) |
| HP:0000426 | Prominent nasal bridge | Very frequent (99-80%) |
| HP:0000430 | Underdeveloped nasal alae | Very frequent (99-80%) |
| HP:0000431 | Wide nasal bridge | Very frequent (99-80%) |
| HP:0000508 | Ptosis | Very frequent (99-80%) |
| HP:0000581 | Blepharophimosis | Very frequent (99-80%) |
| HP:0000582 | Upslanted palpebral fissure | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0009928 | Thick nasal alae | Very frequent (99-80%) |
| HP:0100025 | Overfriendliness | Very frequent (99-80%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000047 | Hypospadias | Frequent (79-30%) |
| HP:0000164 | Abnormality of the dentition | Frequent (79-30%) |
| HP:0000189 | Narrow palate | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000691 | Microdontia | Frequent (79-30%) |
| HP:0001166 | Arachnodactyly | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0001611 | Nasal speech | Frequent (79-30%) |
| HP:0001671 | Abnormal cardiac septum morphology | Frequent (79-30%) |
| HP:0002119 | Ventriculomegaly | Frequent (79-30%) |
| HP:0002465 | Poor speech | Frequent (79-30%) |
| HP:0002705 | High, narrow palate | Frequent (79-30%) |
| HP:0002827 | Hip dislocation | Frequent (79-30%) |
| HP:0005599 | Hypopigmentation of hair | Frequent (79-30%) |
| HP:0005692 | Joint hyperflexibility | Frequent (79-30%) |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | Frequent (79-30%) |
| HP:0008499 | High hypermetropia | Frequent (79-30%) |
| HP:0008872 | Feeding difficulties in infancy | Frequent (79-30%) |
| HP:0010719 | Abnormality of hair texture | Frequent (79-30%) |
| HP:0000073 | Ureteral duplication | Occasional (29-5%) |
| HP:0000075 | Renal duplication | Occasional (29-5%) |
| HP:0000076 | Vesicoureteral reflux | Occasional (29-5%) |
| HP:0000126 | Hydronephrosis | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000252 | Microcephaly | Occasional (29-5%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0000668 | Hypodontia | Occasional (29-5%) |
| HP:0000682 | Abnormality of dental enamel | Occasional (29-5%) |
| HP:0000767 | Pectus excavatum | Occasional (29-5%) |
| HP:0000821 | Hypothyroidism | Occasional (29-5%) |
| HP:0000958 | Dry skin | Occasional (29-5%) |
| HP:0001647 | Bicuspid aortic valve | Occasional (29-5%) |
| HP:0002021 | Pyloric stenosis | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002808 | Kyphosis | Occasional (29-5%) |
| HP:0002948 | Vertebral fusion | Occasional (29-5%) |
| HP:0003422 | Vertebral segmentation defect | Occasional (29-5%) |
| HP:0004322 | Short stature | Occasional (29-5%) |
| HP:0008064 | Ichthyosis | Occasional (29-5%) |
Total: 1
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001249 | Intellectual disability | 2 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|