eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | microcephaly |
| Comorbidity | C0004352|autism |
| Sentences | 2 |
| PubMedID- 22567102 | Our data identify a dup(15) autism subcohort with microcephaly, more severe clinical phenotype, very early onset of seizures, a high percentage of intractable seizures, and a high prevalence of sudden unexpected death in epilepsy (sudep) as associated with the highest percentage of neurons accumulating α-secretase product. |
| PubMedID- 26110312 | Heterozygous syngap1 gene mutations have been associated with autism spectrum disorders, delay of psychomotor development, acquired microcephaly, and several forms of idiopathic generalized epilepsy. |
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