eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | megalencephaly |
| Symptom | C0004352|autism |
| Sentences | 9 |
| PubMedID- 23361946 | These findings demonstrate the phenotypic heterogeneity of autism cases associated with macrocephaly and their genetic etiologies. |
| PubMedID- 24580998 | Taken together, these evidences led us to consider glialcam as a candidate gene in autism-epilepsy associated with macrocephaly, and to screen a sample of individuals with asd either with or without this comorbid endophenotype. |
| PubMedID- 21215908 | macrocephaly in children with autism spectrum disorders. |
| PubMedID- 21464237 | The prevalence of macrocephaly in autism spectrum disorder is reported to be much higher than in the general population, 12% to 37%. |
| PubMedID- 21533542 | autism is also associated with macrocephaly in early stages of development (mccaffery and deutsch 2005), an increased number of neurons in the brain (casanova et al. |
| PubMedID- 25916396 | The phenotypic spectrum of pten mutations expanded to include autism with macrocephaly only 10 years ago. |
| 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 . |
| PubMedID- 24161549 | These results lend support to the proposal that both macrocephaly in autism and a local processing bias may arise from the same underlying neural processes and these characteristics represent an endophenotype in a subgroup of individuals with asc worthy of further investigation. |
| PubMedID- 25549896 | More recently, children presenting autism spectrum disorders with macrocephaly (asd-m) have been reported. |
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