| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (4.0%) |
25077648 |
Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature. Lowther C, Costain G, Stavropoulos DJ, Melvin R, Silversides CK, Andrade DM, So J, Faghfoury H, Lionel AC, Marshall CR, Scherer SW, Bassett AS. Genet Med. 2015;17(2):149-57. |
| Autism | ||
| Adult Chromosome Breakpoints Chromosome Deletion Chromosomes, Human, Pair 15 Cohort Studies Females Genetic Association Studies Homo sapiens Homozygote Intellectual Disability Male Middle Aged Phenotype Placenta Previa Pregnancy Seizures |
Total: 21
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001249 | Intellectual disability | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0000252 | Microcephaly | Occasional (29-5%) |
| HP:0000256 | Macrocephaly | Occasional (29-5%) |
| HP:0000286 | Epicanthus | Occasional (29-5%) |
| HP:0000400 | Macrotia | Occasional (29-5%) |
| HP:0000411 | Protruding ear | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000494 | Downslanted palpebral fissures | Occasional (29-5%) |
| HP:0000717 | Autism | Occasional (29-5%) |
| HP:0000995 | Melanocytic nevus | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001252 | Muscular hypotonia | Occasional (29-5%) |
| HP:0002007 | Frontal bossing | Occasional (29-5%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Occasional (29-5%) |
| HP:0004209 | Clinodactyly of the 5th finger | Occasional (29-5%) |
| HP:0004322 | Short stature | Occasional (29-5%) |
| HP:0005274 | Prominent nasal tip | Occasional (29-5%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Occasional (29-5%) |
| HP:0007302 | Bipolar affective disorder | Occasional (29-5%) |
| HP:0100753 | Schizophrenia | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|