| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (5.0%) |
22065534 |
Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay. Sahoo T, Theisen A, Marble M, Tervo R, Rosenfeld JA, Torchia BS, Shaffer LG. Am J Med Genet A. 2011;155A(12):3110-5. |
| Autistic behavior | ||
| AFF2 FRAXA FRAXE | ||
| Child, Preschool Chromosome Deletion Chromosomes, Human, X Developmental Disabilities Fluorescent in Situ Hybridization Genetic Association Studies Homo sapiens Infant Male Nuclear Proteins Oligonucleotide Array Sequence Analysis Sex Chromosome Aberrations |
Total: 21
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000286 | Epicanthus | Frequent (79-30%) |
| HP:0000426 | Prominent nasal bridge | Frequent (79-30%) |
| HP:0000713 | Agitation | Frequent (79-30%) |
| HP:0000718 | Aggressive behavior | Frequent (79-30%) |
| HP:0000722 | Obsessive-compulsive behavior | Frequent (79-30%) |
| HP:0000729 | Autistic behavior | Frequent (79-30%) |
| HP:0000750 | Delayed speech and language development | Frequent (79-30%) |
| HP:0000752 | Hyperactivity | Frequent (79-30%) |
| HP:0001249 | Intellectual disability | Frequent (79-30%) |
| HP:0001328 | Specific learning disability | Frequent (79-30%) |
| HP:0001511 | Intrauterine growth retardation | Frequent (79-30%) |
| HP:0001609 | Hoarse voice | Frequent (79-30%) |
| HP:0002312 | Clumsiness | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0009904 | Prominent ear helix | Frequent (79-30%) |
| HP:0012471 | Thick vermilion border | Frequent (79-30%) |
| HP:0100023 | Recurrent hand flapping | Frequent (79-30%) |
| HP:0100710 | Impulsivity | Frequent (79-30%) |
| HP:0000256 | Macrocephaly | Occasional (29-5%) |
| HP:0004209 | Clinodactyly of the 5th finger | Occasional (29-5%) |
| HP:0012172 | Stereotypical body rocking | Occasional (29-5%) |
Total: 1
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001249 | Intellectual disability | 1 |