| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (4.0%) |
26685108 |
Infantile spasms and 15q11.2q13.1 chromosome duplication in two successive generations. Riikonen RS, Wallden T, Kokkonen H. Eur J Paediatr Neurol. 2016;20(1):164-7. |
| Autism | ||
| Adult Autistic Disorder Chromosomal Duplication Chromosomes, Human, Pair 15 Developmental Disabilities Females Homo sapiens Infant Japan Male Oligonucleotide Array Sequence Analysis Phenotype Trisomy West Syndrome Young Adult | ||
| 1 (4.0%) |
9741464 |
Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization. Repetto GM, White LM, Bader PJ, Johnson D, Knoll JH. Am J Med Genet. 1998;79(2):82-9. |
| Autistic behavior | ||
| Adult Angelman Syndrome Autistic Disorder Child Child, Preschool Chromosomes, Human, Pair 15 Cytogenetics Females Fluorescent in Situ Hybridization Gene Deletion Genomic Imprinting Homo sapiens Male Multigene Family Prader-Willi Syndrome Short Tandem Repeat |
Total: 19
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000722 | Obsessive-compulsive behavior | Very frequent (99-80%) |
| HP:0000750 | Delayed speech and language development | 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:0007018 | Attention deficit hyperactivity disorder | Very frequent (99-80%) |
| HP:0000717 | Autism | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0002186 | Apraxia | Frequent (79-30%) |
| HP:0004209 | Clinodactyly of the 5th finger | Frequent (79-30%) |
| HP:0000256 | Macrocephaly | Occasional (29-5%) |
| HP:0000286 | Epicanthus | Occasional (29-5%) |
| HP:0000298 | Mask-like facies | Occasional (29-5%) |
| HP:0000494 | Downslanted palpebral fissures | Occasional (29-5%) |
| HP:0001251 | Ataxia | Occasional (29-5%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Occasional (29-5%) |
| HP:0004322 | Short stature | Occasional (29-5%) |
| HP:0005692 | Joint hyperflexibility | Occasional (29-5%) |
| HP:0006101 | Finger syndactyly | Occasional (29-5%) |
Total: 1
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000717 | Autism | 1 |