Microcephaly, epilepsy, and diabetes syndrome
OMIM:614231Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | IER3IP1 |
|---|---|
| Reference transcript | NM_016097.4 |
| DNA Change | c.62T>G |
| A.A. Change | Val21Gly |
| Exon/Intron | exon 1 |
| Mutation Type | substitution |
| Reference | Poulton CJ, Schot R, Kia SK, Jones M, Verheijen FW, Venselaar H, de Wit MC, de Graaff E, Bertoli-Avella AM, Mancini GM.Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors. Am J Hum Genet. 2011 Aug 12;89(2):265-76. |