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PedAM

Pediatric Disease Annotations & Medicines




Disease megalencephaly
Phenotype C0004352|autism
Sentences 1
PubMedID- 24580998 The association of megalencephaly with seizures and autism spectrum disorders in a subset of mlc2b patients raised our interests on the role played by glialcam in the asd-macrocephaly-epilepsy endophenotype and prompted search for allelic variants in a subset of asd patients, either with or without macrocephaly or seizures.

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