| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (4.0%) |
28605748 |
Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome. Tassano E, Giacomini T, Severino M, Gamucci A, Fiorio P, Gimelli G, Ronchetto P. Cytogenet Genome Res. 2017;152(1):22-28. |
| Intellectual disability | ||
| NF1 | ||
| Brain Child Chromosomal Duplication Chromosome Deletion Chromosomes, Human Chromosomes, Human, Pair 17 Craniofacial Abnormalities Facies Females Homo sapiens Infant Infant, Newborn Intellectual Disability Learning Disabilities Magnetic Resonance Imaging Male Neurofibromatoses Phenotype |
Total: 16
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000682 | Abnormality of dental enamel | Frequent (79-30%) |
| HP:0001249 | Intellectual disability | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0006297 | Hypoplasia of dental enamel | Frequent (79-30%) |
| HP:0000053 | Macroorchidism | Occasional (29-5%) |
| HP:0000233 | Thin vermilion border | Occasional (29-5%) |
| HP:0000272 | Malar flattening | Occasional (29-5%) |
| HP:0000535 | Sparse and thin eyebrow | Occasional (29-5%) |
| HP:0000653 | Sparse eyelashes | Occasional (29-5%) |
| HP:0000750 | Delayed speech and language development | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0004411 | Deviated nasal septum | Occasional (29-5%) |
| HP:0009928 | Thick nasal alae | Occasional (29-5%) |
| HP:0011803 | Bifid nose | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|