eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | megalencephaly |
| Comorbidity | C0014544|epilepsy |
| Sentences | 2 |
| 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- 23280234 | Initially, a w356x mutation in syn1 was reported in a family segregating syndromic epilepsy associated with mental retardation, macrocephaly and behavioral disturbances (aggressive behavior and asd-like phenotype) [11]. |
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