| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (59.0%) |
9102812 |
[Soto's syndrome (cerebral gigantism)]. Jovic NS, Vranjesevic DN, Jovic JZ, Marinkovic DD. Srp Arh Celok Lek. 1996;124(1-2):37-40. |
| Dolichocephaly Large hands Prominent forehead | ||
| CIP2A MELTF | ||
| Child, Preschool Gigantism Homo sapiens Intellectual Disability Male Syndrome | ||
| 1 (59.0%) |
2278226 |
Cerebral gigantism: report of one case. Chu TH, Wang PJ, Lin MY, Shen YZ. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1990;31(1):29-34. |
| Dolichocephaly Large hands Frontal bossing | ||
| Differential Diagnosis Females Fragile X Syndrome Gigantism Head Homo sapiens Infant | ||
| 3 (58.1%) |
17978548 |
Dentofacial growth in patients with Sotos syndrome. Takei K, Sueishi K, Yamaguchi H, Ohtawa Y. Bull Tokyo Dent Coll. 2007;48(2):73-85. |
| Narrow palate Large hands | ||
| Brain Cephalometry Child Craniofacial Abnormalities Facies Follow-Up Studies Growth Disorders Homo sapiens Male Malocclusion Mandible Maxilla Maxillofacial Development Palate Syndrome Vertical Dimension | ||
| 4 (57.8%) |
29264563 (5686617) |
Pseudoacromegaly: A Differential Diagnostic Problem for Acromegaly With a Genetic Solution. Dahlqvist P, Spencer R, Marques P, Dang MN, Glad CAM, Johannsson G, Korbonits M. J Endocr Soc. 2017;1(8):1104-1109. |
| Macrocephaly Large hands | ||
| GH1 NSD1 | ||
| p|SUB|C|2202|S;RS#:587784210 | ||
| 4 (57.8%) |
21567906 |
Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: microcephaly, developmental delay and delayed bone age. Zhang H, Lu X, Beasley J, Mulvihill JJ, Liu R, Li S, Lee JY. Am J Med Genet A. 2011;155A(6):1374-8. |
| Microcephaly Large hands | ||
| NSD1 | ||
| rs1553876452 rs1553876858 | ||
| Chromosomal Duplication Chromosomes, Human, Pair 5 Fluorescent in Situ Hybridization Gene Dosage Histone-Lysine N-Methyltransferase Homo sapiens Infant Intracellular Signaling Peptides and Proteins Male Nuclear Proteins Phenotype | ||
| 6 (56.6%) |
2309210 |
[Cerebral gigantism--Sotos' syndrome]. Eskeland P. Tidsskr Nor Laegeforen. 1990;110(5):600-1. |
| High forehead Large hands | ||
| Adult Females Gigantism Homo sapiens Intellectual Disability Male Syndrome | ||
| 7 (53.1%) |
23369838 |
Patient with dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature. ilina O, Reimand T, Tammur P, Tillmann V, Kurg A, Ounap K. Eur J Med Genet. 2013;56(4):202-6. |
| Microcephaly Brachydactyly | ||
| Child Chromosomal Duplication Chromosome Deletion Chromosomes, Human, Pair 5 Females Homo sapiens Phenotype | ||
| 7 (53.1%) |
16770806 |
Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q. Chen CP, Lin SP, Lin CC, Chen YJ, Chern SR, Li YC, Hsieh LJ, Lee CC, Pan CW, Wang W. Am J Med Genet A. 2006;140(14):1594-600. |
| Microcephaly Brachydactyly | ||
| NSD1 | ||
| rs1553876452 rs1553876858 | ||
| Aneuploidy Child Chromosome Banding Chromosomes, Human, Pair 5 Females Fluorescent in Situ Hybridization Gene Dosage Growth Disorders Homo sapiens Intellectual Disability Microcephaly Phenotype Polymerase Chain Reaction | ||
| 9 (52.0%) |
23913520 |
The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome? Dikow N, Maas B, Gaspar H, Kreiss-Nachtsheim M, Engels H, Kuechler A, Garbes L, Netzer C, Neuhann TM, Koehler U, Casteels K, Devriendt K, Janssen JW, Jauch A, Hinderhofer K, Moog U. Am J Med Genet A. 2013;161A(9):2158-66. |
| Thin upper lip vermilion Microcephaly Short palpebral fissure | ||
| rs1131691754 rs1553876452 rs1553876858 rs1554189042 rs1554190262 rs1554198434 rs1554199501 rs768219323 | ||
| Adult Child Child, Preschool Chromosomal Duplication Chromosome Mapping Chromosomes, Human, Pair 5 Facies Females Gene Dosage Histone-Lysine N-Methyltransferase Homo sapiens Intracellular Signaling Peptides and Proteins Male Nuclear Proteins Phenotype Single Nucleotide Polymorphism Young Adult | ||
| 10 (52.0%) |
26200704 |
Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes. Martinez F, Marin-Reina P, Sanchis-Calvo A, Perez-Aytes A, Oltra S, Rosello M, Mayo S, Monfort S, Pantoja J, Orellana C. Pediatr Res. 2015;78(5):533-9. |
| Narrow face Arachnodactyly | ||
| rs1555707363 rs770170081 | ||
| Amino Acid Sequence Base Sequence Bone Diseases, Developmental Child Child, Preschool Craniofacial Abnormalities DNA Mutational Analysis Exons Fatal Outcome Females Genetic Association Studies Genetic Markers Genetic Predisposition to Disease Homo sapiens Infant Infant, Newborn Male Molecular Sequence Data Mutation NFI Transcription Factors Phenotype Septo-Optic Dysplasia 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 |