| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (40.9%) |
18663889 |
Congenital lymphoedema, bronchiectasis and seizure: case report. Semiz S, Dagdeviren E, Ergin H, Kilic I, Kirac S, Cimbis M, Semiz E. East Afr Med J. 2008;85(3):145-9. |
| Chronic sinusitis | ||
| Bronchiectasis Child Females Homo sapiens Intellectual Disability Lymphedema Malformations of Cortical Development Nail Diseases Seizures Sinusitis Syndrome | ||
| 2 (39.0%) |
30892814 |
Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP. Banka S, Sayer R, Breen C, Barton S, Pavaine J, Sheppard SE, Bedoukian E, Skraban C, Cuddapah VA, Clayton-Smith J. Am J Med Genet A. 2019;179(6):1058-1062. |
| Microcephaly | ||
| c|SUB|C|5602|T c|SUB|G|5354|A c|SUB|G|5357|A p|SUB|C|1785|TRY p|SUB|R|1786|H p|SUB|R|1868|W | ||
| Child, Preschool Exons Facies Genetic Association Studies Genotype Homo sapiens Magnetic Resonance Imaging Male Missense Mutation Phenotype Rubinstein-Taybi Syndrome Syndrome | ||
| 3 (30.8%) |
15300315 |
[Recurrent chylothorax -- a fifteen years long history]. Guardiano M, Lobo A, Nunes T, Vaz L. Rev Port Pneumol. 2004;10(3):253-8. |
| Chylothorax Flat face Palpebral edema | ||
| Chylothorax Females Homo sapiens Time Factors | ||
| 4 (26.3%) |
25616299 |
[A complicated case study: Hennekam syndrome]. Deng XL, Yin F, Zhang GY, Duan YD. Zhongguo Dang Dai Er Ke Za Zhi. 2015;17(1):77-80. |
| Hypertelorism Flat face | ||
| CCBE1 FAT4 | ||
| Child, Preschool Craniofacial Abnormalities Genital Diseases, Male Homo sapiens Lymphangiectasis, Intestinal Lymphedema Male Syndrome | ||
| 4 (26.3%) |
23856108 |
[Hennekam syndrome: a case report and review of literature]. Zhang N, Shen WB, Cai HC, Yan XM, Liu SL, Wu D, Sun G, Qian JM, Dun ZN, Zhao YQ. Zhonghua Nei Ke Za Zhi. 2013;52(3):192-6. |
| Hypertelorism Flat face | ||
| ALB CCBE1 | ||
| Craniofacial Abnormalities Females Genital Diseases, Male Homo sapiens Lymphangiectasis, Intestinal Lymphedema Young Adult | ||
| 4 (26.3%) |
12376947 |
Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review. Van Balkom ID, Alders M, Allanson J, Bellini C, Frank U, De Jong G, Kolbe I, Lacombe D, Rockson S, Rowe P, Wijburg F, Hennekam RC. Am J Med Genet. 2002;112(4):412-21. |
| Hypertelorism Flat face | ||
| Child Child, Preschool Differential Diagnosis Females Genes, Recessive Homo sapiens Infant Intellectual Disability Lymphangiectasis Lymphedema Male Syndrome | ||
| 4 (26.3%) |
12124738 |
Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: further case of Hennekam syndrome with a severe phenotype. Forzano F, Faravelli F, Loy A, Di Rocco M. Am J Med Genet. 2002;111(1):68-70. |
| Hypertelorism Flat face | ||
| Epilepsy Face Homo sapiens Intellectual Disability Lymphangiectasis, Intestinal Lymphatic System Lymphedema Male Syndrome | ||
| 4 (26.3%) |
10946350 |
Familial congenital pulmonary lymphangectasia, non-immune hydrops fetalis, facial and lower limb lymphedema: confirmation of Njolstad's report. Jacquemont S, Barbarot S, Boceno M, Stalder JF, David A. Am J Med Genet. 2000;93(4):264-8. |
| Hypertelorism Flat face | ||
| Child Child, Preschool Face Females Genes, Recessive Homo sapiens Hydrops Fetalis Infant Lymphangiectasis Lymphedema | ||
| 4 (26.3%) |
9885742 |
[Hennekam syndrome]. Erkan T, Kutlu T, Cullu F, Celik M, Demir T, Tuysuz B, Tumay GT. Arch Pediatr. 1998;5(12):1344-6. |
| Hypertelorism Flat face | ||
| SERPINA1 | ||
| Differential Diagnosis Duodenum Face Females Homo sapiens Infant Intellectual Disability Lymphangiectasis, Intestinal Syndrome | ||
| 10 (23.3%) |
20583147 |
Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome? O'Driscoll MC, Jenny K, Saitta S, Dobyns WB, Gripp KW. Am J Med Genet A. 2010;152A(7):1621-6. |
| Sacral dimple | ||
| Acrocallosal Syndrome Child, Preschool Facies Females Homo sapiens Infant Infant, Newborn Lymphedema Magnetic Resonance Imaging Male Pregnancy Syndrome |
Total: 51
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000369 | Low-set ears | Very frequent (99-80%) |
| HP:0000431 | Wide nasal bridge | Very frequent (99-80%) |
| HP:0000684 | Delayed eruption of teeth | Very frequent (99-80%) |
| HP:0001004 | Lymphedema | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001530 | Mild postnatal growth retardation | Very frequent (99-80%) |
| HP:0001888 | Lymphopenia | Very frequent (99-80%) |
| HP:0001999 | Abnormal facial shape | Very frequent (99-80%) |
| HP:0002024 | Malabsorption | Very frequent (99-80%) |
| HP:0004313 | Decreased antibody level in blood | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0006482 | Abnormality of dental morphology | Very frequent (99-80%) |
| HP:0008572 | External ear malformation | Very frequent (99-80%) |
| HP:0009804 | Reduced number of teeth | Very frequent (99-80%) |
| HP:0011069 | Increased number of teeth | Very frequent (99-80%) |
| HP:0012368 | Flat face | Very frequent (99-80%) |
| HP:0100764 | Lymphangioma | Very frequent (99-80%) |
| HP:0000212 | Gingival overgrowth | Frequent (79-30%) |
| HP:0000286 | Epicanthus | Frequent (79-30%) |
| HP:0000337 | Broad forehead | Frequent (79-30%) |
| HP:0000501 | Glaucoma | Frequent (79-30%) |
| HP:0000774 | Narrow chest | Frequent (79-30%) |
| HP:0001055 | Erysipelas | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0001541 | Ascites | Frequent (79-30%) |
| HP:0001744 | Splenomegaly | Frequent (79-30%) |
| HP:0002205 | Recurrent respiratory infections | Frequent (79-30%) |
| HP:0002716 | Lymphadenopathy | Frequent (79-30%) |
| HP:0011830 | Abnormal oral mucosa morphology | Frequent (79-30%) |
| HP:0000085 | Horseshoe kidney | Occasional (29-5%) |
| HP:0000086 | Ectopic kidney | Occasional (29-5%) |
| HP:0000160 | Narrow mouth | Occasional (29-5%) |
| HP:0000278 | Retrognathia | Occasional (29-5%) |
| HP:0000322 | Short philtrum | Occasional (29-5%) |
| HP:0000405 | Conductive hearing impairment | Occasional (29-5%) |
| HP:0001302 | Pachygyria | Occasional (29-5%) |
| HP:0001363 | Craniosynostosis | Occasional (29-5%) |
| HP:0001698 | Pericardial effusion | Occasional (29-5%) |
| HP:0001760 | Abnormality of the foot | Occasional (29-5%) |
| HP:0001789 | Hydrops fetalis | Occasional (29-5%) |
| HP:0002021 | Pyloric stenosis | Occasional (29-5%) |
| HP:0002093 | Respiratory insufficiency | Occasional (29-5%) |
| HP:0002215 | Sparse axillary hair | Occasional (29-5%) |
| HP:0002901 | Hypocalcemia | Occasional (29-5%) |
| HP:0006101 | Finger syndactyly | Occasional (29-5%) |
| HP:0006521 | Pulmonary lymphangiectasia | Occasional (29-5%) |
| HP:0010310 | Chylothorax | Occasional (29-5%) |
| HP:0100026 | Arteriovenous malformation | Occasional (29-5%) |
| HP:0100490 | Camptodactyly of finger | Occasional (29-5%) |
| HP:0100835 | Benign neoplasm of the central nervous system | Occasional (29-5%) |
Total: 6
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0012368 | Flat face | 2 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000969 | Edema | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0002202 | Pleural effusion | 1 |
| HP:0100540 | Palpebral edema | 1 |