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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease microcephaly
Comorbidity C0011847|diabetes
Sentences 2
PubMedID- 24138066 A syndrome of permanent neonatal diabetes along with primary microcephaly with simplified gyral pattern associated with severe infantile epileptic encephalopathy was recently described in two independent reports in which disease-causing homozygous mutations were identified in the immediate early response-3 interacting protein-1 (ier3ip1) gene.
PubMedID- 24204302 Early onset diabetes has been associated with microcephaly in other genetic disorders.

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