Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) is a rare inherited recessive disorder that is caused by biallelic mutation in PTRH2 gene. The first cases were described in 2014 by Hu et al. [1] who exposed the novel disease phenotype, genetic cause, and the functional analysis in human and mice tissues. The main features of IMNEPD are intellectual disability, global developmental delay, deafness and exocrine and endocrine pancreatic insufficiency. The phenotypic variability was reported in individuals carrying the same mutation [2]. Clinical variability was observed and the frequency of neurological abnormalities was found highest. Diverse types of mutations were discovered having the missense mutation the commonest [3]. Studies conducted in the Middle Eastern and Asia region reported varying genetic mutations [1,4-6]. We presented 2 siblings diagnosed with IMNEPD with phenotype and genotype description.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10167404/
