PedAM
Pediatric Disease Annotations & Medicines
| Disease | microcephaly |
| Phenotype | C0004352|autism |
| Sentences | 2 |
| 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. |
| PubMedID- 22567102 | However, the most pronounced accumulation of amino-terminally truncated aβ observed in the dup(15) autism cohort with microcephaly [28] indicates that intraneuronal aβ accumulation of the products of α-secretase is not associated with brain overgrowth. |
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