PedAM
Pediatric Disease Annotations & Medicines
| Disease | n syndrome |
| Phenotype | C0221355|macrocephaly |
| Sentences | 2 |
| PubMedID- 22180640 | Regarding ofc, there is one listed microdeletion/microduplication syndrome in decipher with macrocephaly, the 1q21.1 microduplication syndrome, in comparison with microcephaly that is present in 13 of the decipher listed syndromes. |
| PubMedID- 25123844 | The dlg4, gabarap, and dullard genes included in the microduplications of both our patients appear to be candidate genes for neurodevelopmental delays and macrocephaly in individuals with 17p13.1 microduplication syndrome. |
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