| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 18 (40.2%) |
12378571 |
Perinatal imaging findings of inherited Sotos syndrome. Chen CP, Lin SP, Chang TY, Chiu NC, Shih SL, Lin CJ, Wang W, Hsu HC. Prenat Diagn. 2002;22(10):887-92. |
| Macrocephaly Frontal bossing | ||
| Adult Brain Cerebral Ventricles Fatal Outcome Females Genetic Diseases, Inborn Gestational Age Homo sapiens Hydronephrosis Magnetic Resonance Imaging Polyhydramnios Pregnancy Syndrome Ultrasonography, Prenatal | ||
| 18 (40.2%) |
7341644 |
Roentgencephalometric analysis of cerebral gigantism: report of four patients. Motohashi N, Pruzansky S, Kawata T. J Craniofac Genet Dev Biol. 1981;1(1):73-94. |
| Frontal bossing | ||
| Cephalometry Child Child, Preschool Females Gigantism Homo sapiens Male | ||
| 23 (39.0%) |
28128410 |
A rare case of a boy with de novo microduplication at 5q35.2q35.3 from central Brazil. Reis FG, Pinto IP, Minasi LB, Melo AV, Cunha DM, Ribeiro CL, da Silva CC, Silva DM, da Cruz AD. Genet Mol Res. 2017;16(1):. |
| Microcephaly | ||
| NSD1 | ||
| Brazil Chromosomal Duplication Chromosomes, Human, Pair 5 Homo sapiens Male Phenotype | ||
| 23 (39.0%) |
25887879 |
Hypoparathyroidism in a 3-year-old Korean boy with Sotos syndrome and a novel mutation in NSD1. Wejaphikul K, Cho SY, Huh R, Kwun Y, Lee J, Ki CS, Jin DK. Ann Clin Lab Sci. 2015;45(2):215-8. |
| Macrocephaly | ||
| NSD1 | ||
| c|SUB|C|4710|A | ||
| Asians Child, Preschool DNA Mutational Analysis Histone-Lysine N-Methyltransferase Homo sapiens Hypoparathyroidism Intracellular Signaling Peptides and Proteins Male Mutation Nuclear Proteins | ||
| 23 (39.0%) |
25510705 |
Prenatal diagnosis and molecular cytogenetic characterization of a 1.07-Mb microdeletion at 5q35.2-q35.3 associated with NSD1 haploinsufficiency and Sotos syndrome. Chen CP, Lin CJ, Chern SR, Liu YP, Kuo YL, Chen YN, Wu PS, Town DD, Chen LF, Yang CW, Wang W. Taiwan J Obstet Gynecol. 2014;53(4):583-7. |
| Macrocephaly | ||
| NSD1 | ||
| Adult Chromosome Deletion Chromosomes, Human, Pair 5 Cytogenetic Analysis Females Genetic Markers Haploinsufficiency Histone-Lysine N-Methyltransferase Homo sapiens Intracellular Signaling Peptides and Proteins Nuclear Proteins Pregnancy | ||
| 23 (39.0%) |
24819041 |
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion. Novara F, Stanzial F, Rossi E, Benedicenti F, Inzana F, Di Gregorio E, Brusco A, Graakjaer J, Fagerberg C, Belligni E, Silengo M, Zuffardi O, Ciccone R. Am J Med Genet A. 2014;164A(8):2084-90. |
| Microcephaly | ||
| NSD1 | ||
| rs1553876452 rs1553876858 | ||
| Child, Preschool Chromosomal Duplication Chromosome Deletion Chromosomes, Human, Pair 5 Facies Females Fluorescent in Situ Hybridization Genetic Association Studies Homo sapiens Male Middle Aged Phenotype Segmental Duplications, Genomic | ||
| 23 (39.0%) |
24192683 |
A case of Sotos syndrome with 5q35 microdeletion and novel clinical findings. Klc E, Utine GE, Boduroglu K. Turk J Pediatr. 2013;55(2):207-9. |
| Macrocephaly | ||
| NSD1 | ||
| Child Chromosome Deletion Chromosomes, Human, Pair 5 Homo sapiens Magnetic Resonance Imaging Male | ||
| 23 (39.0%) |
22790336 |
A case of Sotos syndrome treated with distraction osteogenesis in maxilla and mandible. Takano M, Kasahara K, Ogawa C, Katada H, Sueishi K. Bull Tokyo Dent Coll. 2012;53(2):75-82. |
| Dolichocephaly | ||
| Homo sapiens Male Malocclusion Mandible Mandibular Advancement Maxilla Osteogenesis, Distraction Palatal Expansion Technique Panoramic Radiography Retrognathia | ||
| 23 (39.0%) |
21998857 |
De novo 5q35.5 duplication with clinical presentation of Sotos syndrome. Kasnauskiene J, Cimbalistiene L, Ciuladaite Z, Preiksaitiene E, Kuinskien ZA, Hettinger JA, Sismani C, Patsalis PC, Kuinskas V. Am J Med Genet A. 2011;155A(10):2501-7. |
| Postnatal macrocephaly | ||
| NSD1 | ||
| Brain Child, Preschool Chromosomal Duplication Chromosomes, Human, Pair 5 Cytogenetic Analysis Females Histone-Lysine N-Methyltransferase Homo sapiens Intracellular Signaling Peptides and Proteins Magnetic Resonance Imaging Nuclear Proteins Phenotype | ||
| 23 (39.0%) |
21738022 |
Phenotypic variability in a three-generation Northern Irish family with Sotos syndrome. Donnelly DE, Turnpenny P, McConnell VP. Clin Dysmorphol. 2011;20(4):175-81. |
| Macrocephaly | ||
| c|SUB|C|6115|T | ||
| Adult Child Child, Preschool Females Genetic Association Studies Histone-Lysine N-Methyltransferase Homo sapiens Intracellular Signaling Peptides and Proteins Male Middle Aged Mutation Northern Ireland Nuclear Proteins Phenotype Young Adult |
Total: 50
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000098 | Tall stature | Very frequent (99-80%) |
| HP:0000218 | High palate | Very frequent (99-80%) |
| HP:0000256 | Macrocephaly | Very frequent (99-80%) |
| HP:0000303 | Mandibular prognathia | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000348 | High forehead | Very frequent (99-80%) |
| HP:0000400 | Macrotia | Very frequent (99-80%) |
| HP:0000457 | Depressed nasal ridge | Very frequent (99-80%) |
| HP:0000494 | Downslanted palpebral fissures | 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:0002007 | Frontal bossing | Very frequent (99-80%) |
| HP:0005616 | Accelerated skeletal maturation | Very frequent (99-80%) |
| HP:0008872 | Feeding difficulties in infancy | Very frequent (99-80%) |
| HP:0011220 | Prominent forehead | Very frequent (99-80%) |
| HP:0000268 | Dolichocephaly | Frequent (79-30%) |
| HP:0000405 | Conductive hearing impairment | Frequent (79-30%) |
| HP:0000463 | Anteverted nares | Frequent (79-30%) |
| HP:0000826 | Precocious puberty | Frequent (79-30%) |
| HP:0001513 | Obesity | Frequent (79-30%) |
| HP:0001943 | Hypoglycemia | Frequent (79-30%) |
| HP:0002119 | Ventriculomegaly | Frequent (79-30%) |
| HP:0006288 | Advanced eruption of teeth | Frequent (79-30%) |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | Frequent (79-30%) |
| HP:0010978 | Abnormality of immune system physiology | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000047 | Hypospadias | Occasional (29-5%) |
| HP:0000069 | Abnormality of the ureter | Occasional (29-5%) |
| HP:0000075 | Renal duplication | Occasional (29-5%) |
| HP:0000076 | Vesicoureteral reflux | Occasional (29-5%) |
| HP:0000280 | Coarse facial features | Occasional (29-5%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000708 | Behavioral abnormality | Occasional (29-5%) |
| HP:0001231 | Abnormal fingernail morphology | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001347 | Hyperreflexia | Occasional (29-5%) |
| HP:0001363 | Craniosynostosis | Occasional (29-5%) |
| HP:0001374 | Congenital hip dislocation | Occasional (29-5%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (29-5%) |
| HP:0001671 | Abnormal cardiac septum morphology | Occasional (29-5%) |
| HP:0002353 | EEG abnormality | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002664 | Neoplasm | Occasional (29-5%) |
| HP:0002857 | Genu valgum | Occasional (29-5%) |
| HP:0002970 | Genu varum | Occasional (29-5%) |
| HP:0004375 | Neoplasm of the nervous system | Occasional (29-5%) |
| HP:0005562 | Multiple renal cysts | Occasional (29-5%) |
| HP:0030736 | Sacrococcygeal teratoma | Occasional (29-5%) |
Total: 85
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001548 | Overgrowth | 34 |
| HP:0000256 | Macrocephaly | 14 |
| HP:0000098 | Tall stature | 4 |
| HP:0002650 | Scoliosis | 4 |
| HP:0004322 | Short stature | 4 |
| HP:0001176 | Large hands | 3 |
| HP:0002664 | Neoplasm | 3 |
| HP:0000126 | Hydronephrosis | 2 |
| HP:0000252 | Microcephaly | 2 |
| HP:0000268 | Dolichocephaly | 2 |
| HP:0000648 | Optic atrophy | 2 |
| HP:0000709 | Psychosis | 2 |
| HP:0000832 | Primary hypothyroidism | 2 |
| HP:0001249 | Intellectual disability | 2 |
| HP:0001250 | Seizures | 2 |
| HP:0001252 | Muscular hypotonia | 2 |
| HP:0001382 | Joint hypermobility | 2 |
| HP:0001513 | Obesity | 2 |
| HP:0001561 | Polyhydramnios | 2 |
| HP:0001763 | Pes planus | 2 |
| HP:0001909 | Leukemia | 2 |
| HP:0002312 | Clumsiness | 2 |
| HP:0005490 | Postnatal macrocephaly | 2 |
| HP:0008250 | Infantile hypercalcemia | 2 |
| HP:0011220 | Prominent forehead | 2 |
| HP:0000121 | Nephrocalcinosis | 1 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000275 | Narrow face | 1 |
| HP:0000307 | Pointed chin | 1 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000325 | Triangular face | 1 |
| HP:0000494 | Downslanted palpebral fissures | 1 |
| HP:0000501 | Glaucoma | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0000526 | Aniridia | 1 |
| HP:0000608 | Macular degeneration | 1 |
| HP:0000668 | Hypodontia | 1 |
| HP:0000718 | Aggressive behavior | 1 |
| HP:0000819 | Diabetes mellitus | 1 |
| HP:0000829 | Hypoparathyroidism | 1 |
| HP:0000957 | Cafe-au-lait spot | 1 |
| HP:0000980 | Pallor | 1 |
| HP:0000998 | Hypertrichosis | 1 |
| HP:0001105 | Retinal atrophy | 1 |
| HP:0001159 | Syndactyly | 1 |
| HP:0001166 | Arachnodactyly | 1 |
| HP:0001251 | Ataxia | 1 |
| HP:0001260 | Dysarthria | 1 |
| HP:0001272 | Cerebellar atrophy | 1 |
| HP:0001298 | Encephalopathy | 1 |
| HP:0001332 | Dystonia | 1 |
| HP:0001508 | Failure to thrive | 1 |
| HP:0001582 | Redundant skin | 1 |
| HP:0001638 | Cardiomyopathy | 1 |
| HP:0002007 | Frontal bossing | 1 |
| HP:0002080 | Intention tremor | 1 |
| HP:0002099 | Asthma | 1 |
| HP:0002119 | Ventriculomegaly | 1 |
| HP:0002133 | Status epilepticus | 1 |
| HP:0002311 | Incoordination | 1 |
| HP:0002353 | EEG abnormality | 1 |
| HP:0002783 | Recurrent lower respiratory tract infections | 1 |
| HP:0002901 | Hypocalcemia | 1 |
| HP:0003072 | Hypercalcemia | 1 |
| HP:0003201 | Rhabdomyolysis | 1 |
| HP:0004373 | Focal dystonia | 1 |
| HP:0005523 | Lymphoproliferative disorder | 1 |
| HP:0008443 | Spinal deformities | 1 |
| HP:0008462 | Cervical instability | 1 |
| HP:0009830 | Peripheral neuropathy | 1 |
| HP:0009890 | High anterior hairline | 1 |
| HP:0010566 | Hamartoma | 1 |
| HP:0010614 | Fibroma | 1 |
| HP:0010617 | Cardiac fibroma | 1 |
| HP:0010646 | Cervical spine instability | 1 |
| HP:0010880 | Increased nuchal translucency | 1 |
| HP:0011947 | Respiratory tract infection | 1 |
| HP:0012181 | Entrapment neuropathy | 1 |
| HP:0012385 | Camptodactyly | 1 |
| HP:0030357 | Small cell lung carcinoma | 1 |
| HP:0030731 | Carcinoma | 1 |
| HP:0031273 | Shock | 1 |
| HP:0032008 | Pulmonary fat embolism | 1 |
| HP:0100543 | Cognitive impairment | 1 |
| HP:0200008 | Intestinal polyposis | 1 |