| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (39.0%) |
22848023 |
De novo microdeletion of 5q14.3 excluding MEF2C in a patient with infantile spasms, microcephaly, and agenesis of the corpus callosum. Shimojima K, Okumura A, Mori H, Abe S, Ikeno M, Shimizu T, Yamamoto T. Am J Med Genet A. 2012;158A(9):2272-6. |
| Microcephaly | ||
| MEF2C | ||
| Chromosome Deletion Chromosomes, Human, Pair 5 Corpus Callosum Homo sapiens Infant MADS Domain Proteins MEF2 Transcription Factors Magnetic Resonance Imaging Male Microcephaly Myogenic Regulatory Factors Spasm | ||
| 2 (17.5%) |
25876691 |
[Infantile spasm associated with 5q14.3 microdeletion syndrome: clinical and genetic characterization of a core family]. Yu D, Li S, Jiang N. Zhonghua Er Ke Za Zhi. 2015;53(2):140-2. |
| Hypotonia | ||
| MEF2C | ||
| Child Chromosome Deletion Chromosome Structures Chromosomes Cytogenetic Analysis Epilepsy Females Fluorescent in Situ Hybridization Homo sapiens Infant, Newborn Phenotype Pregnancy Syndrome West Syndrome | ||
| 3 (4.0%) |
26161356 (4496521) |
MEF2C-Related 5q14.3 Microdeletion Syndrome Detected by Array CGH: A Case Report. Shim JS, Min K, Lee SH, Park JE, Park SH, Kim M, Shim SH. Ann Rehabil Med. 2015;39(3):482-7. |
| Intellectual disability | ||
| MEF2C | ||
Total: 24
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000337 | Broad forehead | Very frequent (99-80%) |
| HP:0000348 | High forehead | Very frequent (99-80%) |
| HP:0000729 | Autistic behavior | Very frequent (99-80%) |
| HP:0000750 | Delayed speech and language development | Very frequent (99-80%) |
| HP:0001250 | Seizures | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0010864 | Intellectual disability, severe | Very frequent (99-80%) |
| HP:0000322 | Short philtrum | Frequent (79-30%) |
| HP:0000582 | Upslanted palpebral fissure | Frequent (79-30%) |
| HP:0000733 | Stereotypy | Frequent (79-30%) |
| HP:0002079 | Hypoplasia of the corpus callosum | Frequent (79-30%) |
| HP:0002119 | Ventriculomegaly | Frequent (79-30%) |
| HP:0003196 | Short nose | Frequent (79-30%) |
| HP:0012639 | Abnormality of nervous system morphology | Frequent (79-30%) |
| HP:0000194 | Open mouth | Occasional (29-5%) |
| HP:0000463 | Anteverted nares | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000490 | Deeply set eye | Occasional (29-5%) |
| HP:0000574 | Thick eyebrow | Occasional (29-5%) |
| HP:0000609 | Optic nerve hypoplasia | Occasional (29-5%) |
| HP:0001770 | Toe syndactyly | Occasional (29-5%) |
| HP:0002335 | Agenesis of cerebellar vermis | Occasional (29-5%) |
| HP:0006913 | Frontal cortical atrophy | Occasional (29-5%) |
| HP:0011968 | Feeding difficulties | Occasional (29-5%) |
Total: 1
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001249 | Intellectual disability | 1 |