Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Microcephaly, epilepsy, and diabetes syndrome

OMIM:614231
Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities


Mutations

Gene SymbolIER3IP1
Reference transcriptNM_016097.4
DNA Changec.62T>G
A.A. ChangeVal21Gly
Exon/Intronexon 1
Mutation Typesubstitution
ReferencePoulton 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.