PedAM
Pediatric Disease Annotations & Medicines
| Disease | pervasive developmental disorder |
| Phenotype | C0221355|macrocephaly |
| Sentences | 5 |
| PubMedID- 21215908 | macrocephaly in children with autism spectrum disorders. |
| PubMedID- 23382303 | Mutations in pten have been identified in different clinical disorders such as bannayan-riley-ruvalcaba syndrome, cowden syndrome, proteus syndrome, proteus-like syndrome, and autism spectrum disorders with macrocephaly (hobert). |
| PubMedID- 25549896 | More recently, children presenting autism spectrum disorders with macrocephaly (asd-m) have been reported. |
| PubMedID- 20368795 | Pten hamartoma tumor syndrome, caused by a germline mutation in pten gene on chromosome 10q, comprises a group of disorders including cowden syndrome, bannayan-riley-ruvalcaba syndrome, proteus syndrome, proteus-like syndrome, and autism spectrum disorder with macrocephaly [27, 28]. |
| PubMedID- 21464237 | The prevalence of macrocephaly in autism spectrum disorder is reported to be much higher than in the general population, 12% to 37%. |
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