| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 15 (31.0%) |
9192261 |
Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome. Kang S, Allen J, Graham JM Jr, Grebe T, Clericuzio C, Patronas N, Ondrey F, Green E, Schaffer A, Abbott M, Biesecker LG. J Med Genet. 1997;34(6):441-6. |
| Hypothalamic hamartoma Polydactyly | ||
| GLI3 | ||
| rs116840743 rs116840744 | ||
| Anus, Imperforate Chromosome Mapping Females Genes, Dominant Genetic Markers Hamartoma Homo sapiens Hypothalamic Diseases Infant Larynx Magnetic Resonance Imaging Male Phenotype Polydactyly Syndrome | ||
| 15 (31.0%) |
3007398 |
Greig cephalopolysyndactyly syndrome. Report of a sporadic case. Kunze J, Kaufmann HJ. Helv Paediatr Acta. 1985;40(6):489-95. |
| Syndactyly | ||
| Child Behavior Child Development Child, Preschool Craniofacial Dysostosis Females Homo sapiens Motor Skills Syndactyly Syndrome | ||
| 23 (17.5%) |
17937435 |
Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation. Borg K, Nowakowska B, Obersztyn E, Cheung SW, Brycz-Witkowska J, Korniszewski L, Mazurczak T, Stankiewicz P, Bocian E. Am J Med Genet A. 2007;143A(22):2738-43. |
| Hypertonia | ||
| GLI3 | ||
| Child Chromosome Deletion Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 5 Chromosomes, Human, Pair 7 Cytogenetic Analysis Homo sapiens Male Syndactyly Syndrome | ||
| 24 (4.0%) |
23776344 (3681123) |
Greig cephalopolysyndactyly (GCPS) contiguous gene syndrome in a boy with a 14 Mb deletion in region 7p13-14 caused by a paternal balanced insertion (5; 7). Schulz S, Volleth M, Muschke P, Wieland I, Wieacker P. Appl Clin Genet. 2008;1:19-22. |
| Hypertelorism | ||
| GLI3 | ||
| 24 (4.0%) |
16912002 |
Japanese family with Greig cephalopolysyndactyly syndrome, including bilateral seven toes, and esotropia, over three generations. Muneuchi G, Suzuki S, Sato M, Tamai M, Igawa HH. Scand J Plast Reconstr Surg Hand Surg. 2006;40(4):253-6. |
| Hypertelorism | ||
| Adult Asians Craniofacial Abnormalities Esotropia Females Homo sapiens Infant Polydactyly | ||
| 24 (4.0%) |
11484201 |
Phenotype of five patients with Greig syndrome and microdeletion of 7p13. Kroisel PM, Petek E, Wagner K. Am J Med Genet. 2001;102(3):243-9. |
| Hirsutism | ||
| Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 7 Craniofacial Abnormalities Females Fluorescent in Situ Hybridization Homo sapiens Infant Male Phenotype Syndactyly Syndrome | ||
| 24 (4.0%) |
8418656 |
Apparent Greig cephalopolysyndactyly and sinus node disease. Fryns JP, De Waele P, Van der Hauwaert L, Van den Berghe H. Am J Med Genet. 1993;45(1):38-40. |
| Sick sinus syndrome | ||
| Bone and Bones Child Chromosome Aberrations Chromosomes, Human, Pair 7 Congenital Foot Deformity Congenital Hand Deformities Congenital Heart Defects Homo sapiens Male Sinoatrial Node Syndrome | ||
| 24 (4.0%) |
1491747 |
Acrocallosal syndrome: association with cystic malformation of the brain and neurodevelopmental aspects. Thyen U, Aksu F, Bartsch O, Herb E. Neuropediatrics. 1992;23(6):292-6. |
| Seizure | ||
| Blood Pressure Brain Brain Diseases Cyst Epilepsy Homo sapiens Infant, Newborn Intellectual Disability Limb Deformities, Congenital Magnetic Resonance Imaging Male Syndrome |
Total: 22
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000256 | Macrocephaly | Very frequent (99-80%) |
| HP:0001162 | Postaxial hand polydactyly | Very frequent (99-80%) |
| HP:0001841 | Preaxial foot polydactyly | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000348 | High forehead | Frequent (79-30%) |
| HP:0000431 | Wide nasal bridge | Frequent (79-30%) |
| HP:0000506 | Telecanthus | Frequent (79-30%) |
| HP:0001770 | Toe syndactyly | Frequent (79-30%) |
| HP:0002007 | Frontal bossing | Frequent (79-30%) |
| HP:0005616 | Accelerated skeletal maturation | Frequent (79-30%) |
| HP:0006101 | Finger syndactyly | Frequent (79-30%) |
| HP:0000238 | Hydrocephalus | Occasional (29-5%) |
| HP:0000776 | Congenital diaphragmatic hernia | Occasional (29-5%) |
| HP:0001177 | Preaxial hand polydactyly | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001256 | Intellectual disability, mild | Occasional (29-5%) |
| HP:0001274 | Agenesis of corpus callosum | Occasional (29-5%) |
| HP:0001363 | Craniosynostosis | Occasional (29-5%) |
| HP:0001537 | Umbilical hernia | Occasional (29-5%) |
| HP:0001830 | Postaxial foot polydactyly | Occasional (29-5%) |
| HP:0010059 | Broad hallux phalanx | Occasional (29-5%) |
| HP:0011304 | Broad thumb | Occasional (29-5%) |
Total: 13
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000256 | Macrocephaly | 6 |
| HP:0000316 | Hypertelorism | 4 |
| HP:0100259 | Postaxial polydactyly | 4 |
| HP:0001159 | Syndactyly | 2 |
| HP:0010442 | Polydactyly | 2 |
| HP:0100258 | Preaxial polydactyly | 2 |
| HP:0000243 | Trigonocephaly | 1 |
| HP:0000565 | Esotropia | 1 |
| HP:0000717 | Autism | 1 |
| HP:0001274 | Agenesis of corpus callosum | 1 |
| HP:0001276 | Hypertonia | 1 |
| HP:0011304 | Broad thumb | 1 |
| HP:0025356 | Psychomotor retardation | 1 |