eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | neonatal diabetes mellitus |
| Comorbidity | C0025958|microcephaly |
| Sentences | 1 |
| 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. |
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