| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (70.8%) |
25774221 (4359765) |
Phenotypic variability in a Hungarian patient with the 4q21 microdeletion syndrome. Komlosi K, Duga B, Hadzsiev K, Czako M, Kosztolanyi G, Fogarasi A, Melegh B. Mol Cytogenet. 2015;8:16. |
| Short philtrum Small hand | ||
| 2 (66.9%) |
15953406 |
Polycystic kidneys and del (4)(q21.1q21.3): further delineation of a distinct phenotype. Velinov M, Kupferman J, Gu H, Macera MJ, Babu A, Jenkins EC, Kupchik G. Eur J Med Genet. 2005;48(1):51-5. |
| Frontal bossing Short finger | ||
| PKD2 | ||
| Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 4 Craniofacial Abnormalities Developmental Disabilities Fingers Fluorescent in Situ Hybridization Homo sapiens Male Membrane Proteins Phenotype Polycystic Kidney Diseases TRPP Cation Channels | ||
| 3 (63.4%) |
9677069 |
Interstitial deletion of the long arm of chromosome 4 [del(4)(q21.22q23)] and a liver tumor. Suwa K, Momoi MY, Yamagata T, Mori Y. Am J Med Genet. 1998;78(3):291-3. |
| Micrognathia Overlapping fingers | ||
| AFP | ||
| Birth Weight Chromosome Deletion Chromosomes, Human, Pair 4 Congenital Heart Defects Homo sapiens Hypospadias Infant Japan Male Nose Polydactyly Psychomotor Performance | ||
| 4 (40.2%) |
27288323 |
A de novo microtriplication at 4q21.21-q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech. Lebedev IN, Nazarenko LP, Skryabin NA, Babushkina NP, Kashevarova AA. Am J Med Genet A. 2016;170(8):2089-96. |
| Macrocephaly Broad forehead | ||
| BMP3 ENOPH1 HNRNPD HNRNPDL LINC00575 PRKG2 RASGEF1B SCD5 TMEM150C | ||
| Child, Preschool Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 4 DNA Copy Number Variations Developmental Disabilities Facies Females Genetic Association Studies Hemangioma Homo sapiens Phenotype Speech Disorders Syndrome Trisomy | ||
| 5 (4.0%) |
27604828 |
Further defining the critical genes for the 4q21 microdeletion disorder. Hu X, Chen X, Wu B, Soler IM, Chen S, Shen Y. Am J Med Genet A. 2017;173(1):120-125. |
| Intellectual disability | ||
| HNRNPD HNRNPDL PRKG2 RASGEF1B | ||
| Alleles Child Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 4 Females Genetic Association Studies Genotype Homo sapiens Male Phenotype | ||
| 5 (4.0%) |
22903878 |
Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome. Tsang E, Rupps R, McGillivray B, Eydoux P, Marra M, Arbour L, Langlois S, Friedman JM, Zahir FR. Am J Med Genet A. 2012;158A(10):2606-9. |
| Intellectual disability | ||
| PRKG2 RASGEF1B | ||
| Adult Chromosome Deletion Chromosomes, Human, Pair 4 Developmental Disabilities Fatal Outcome Females Homo sapiens Intellectual Disability Phenotype Syndrome Young Adult | ||
| 5 (4.0%) |
11568928 |
An 8-cM interstitial deletion on 4q21-q22 in DNA from an infant with hepatoblastoma overlaps with a commonly deleted region in adult liver cancers. Terada Y, Imoto I, Nagai H, Suwa K, Momoi M, Tajiri T, Onda M, Inazawa J, Emi M. Am J Med Genet. 2001;103(2):176-80. |
| Seizure | ||
| AFP | ||
| Adult Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 4 DNA, Neoplasm Fatal Outcome Fluorescent in Situ Hybridization Hepatoblastoma Homo sapiens Infant Male Short Tandem Repeat |
Total: 42
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000750 | Delayed speech and language development | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001510 | Growth delay | Very frequent (99-80%) |
| HP:0010864 | Intellectual disability, severe | Very frequent (99-80%) |
| HP:0011344 | Severe global developmental delay | Very frequent (99-80%) |
| HP:0000293 | Full cheeks | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000322 | Short philtrum | Frequent (79-30%) |
| HP:0000337 | Broad forehead | Frequent (79-30%) |
| HP:0000369 | Low-set ears | Frequent (79-30%) |
| HP:0000470 | Short neck | Frequent (79-30%) |
| HP:0001773 | Short foot | Frequent (79-30%) |
| HP:0002007 | Frontal bossing | Frequent (79-30%) |
| HP:0002983 | Micromelia | Frequent (79-30%) |
| HP:0004279 | Short palm | Frequent (79-30%) |
| HP:0005280 | Depressed nasal bridge | Frequent (79-30%) |
| HP:0200055 | Small hand | Frequent (79-30%) |
| HP:0000164 | Abnormality of the dentition | Occasional (29-5%) |
| HP:0000233 | Thin vermilion border | Occasional (29-5%) |
| HP:0000239 | Large fontanelles | Occasional (29-5%) |
| HP:0000348 | High forehead | Occasional (29-5%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000508 | Ptosis | Occasional (29-5%) |
| HP:0000527 | Long eyelashes | Occasional (29-5%) |
| HP:0000664 | Synophrys | Occasional (29-5%) |
| HP:0000717 | Autism | Occasional (29-5%) |
| HP:0000733 | Stereotypy | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001274 | Agenesis of corpus callosum | Occasional (29-5%) |
| HP:0001321 | Cerebellar hypoplasia | Occasional (29-5%) |
| HP:0001337 | Tremor | Occasional (29-5%) |
| HP:0001511 | Intrauterine growth retardation | Occasional (29-5%) |
| HP:0001770 | Toe syndactyly | Occasional (29-5%) |
| HP:0002119 | Ventriculomegaly | Occasional (29-5%) |
| HP:0002230 | Generalized hirsutism | Occasional (29-5%) |
| HP:0002360 | Sleep disturbance | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002714 | Downturned corners of mouth | Occasional (29-5%) |
| HP:0002808 | Kyphosis | Occasional (29-5%) |
| HP:0100716 | Self-injurious behavior | 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 |
|---|